Incidental Mutation 'R3024:Birc6'
ID |
265784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Birc6
|
Ensembl Gene |
ENSMUSG00000024073 |
Gene Name |
baculoviral IAP repeat-containing 6 |
Synonyms |
D630005A10Rik, apollon, Bruce, A430032G04Rik, A430040A19Rik |
MMRRC Submission |
040540-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3024 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
74528295-74703356 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74608219 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1635
(S1635P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180037]
[ENSMUST00000182133]
[ENSMUST00000182278]
[ENSMUST00000182597]
[ENSMUST00000182845]
[ENSMUST00000182944]
[ENSMUST00000183224]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000177957
AA Change: S328P
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180037
AA Change: S1635P
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136329 Gene: ENSMUSG00000024073 AA Change: S1635P
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
54 |
N/A |
INTRINSIC |
BIR
|
287 |
363 |
2.87e-24 |
SMART |
low complexity region
|
472 |
493 |
N/A |
INTRINSIC |
low complexity region
|
624 |
635 |
N/A |
INTRINSIC |
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
low complexity region
|
769 |
781 |
N/A |
INTRINSIC |
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1380 |
N/A |
INTRINSIC |
coiled coil region
|
1620 |
1675 |
N/A |
INTRINSIC |
low complexity region
|
1709 |
1726 |
N/A |
INTRINSIC |
low complexity region
|
1993 |
1998 |
N/A |
INTRINSIC |
low complexity region
|
2044 |
2059 |
N/A |
INTRINSIC |
low complexity region
|
2142 |
2163 |
N/A |
INTRINSIC |
low complexity region
|
2253 |
2266 |
N/A |
INTRINSIC |
low complexity region
|
2491 |
2505 |
N/A |
INTRINSIC |
low complexity region
|
2671 |
2688 |
N/A |
INTRINSIC |
low complexity region
|
2893 |
2905 |
N/A |
INTRINSIC |
low complexity region
|
2958 |
2970 |
N/A |
INTRINSIC |
Pfam:DUF3643
|
3477 |
3632 |
1e-69 |
PFAM |
low complexity region
|
3747 |
3772 |
N/A |
INTRINSIC |
low complexity region
|
3900 |
3919 |
N/A |
INTRINSIC |
low complexity region
|
3940 |
3958 |
N/A |
INTRINSIC |
low complexity region
|
3963 |
3972 |
N/A |
INTRINSIC |
low complexity region
|
4146 |
4157 |
N/A |
INTRINSIC |
low complexity region
|
4307 |
4318 |
N/A |
INTRINSIC |
low complexity region
|
4433 |
4444 |
N/A |
INTRINSIC |
UBCc
|
4592 |
4756 |
1.04e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181387
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182133
AA Change: S1635P
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138693 Gene: ENSMUSG00000024073 AA Change: S1635P
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
54 |
N/A |
INTRINSIC |
BIR
|
287 |
363 |
2.87e-24 |
SMART |
low complexity region
|
472 |
493 |
N/A |
INTRINSIC |
low complexity region
|
624 |
635 |
N/A |
INTRINSIC |
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
low complexity region
|
769 |
781 |
N/A |
INTRINSIC |
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1380 |
N/A |
INTRINSIC |
coiled coil region
|
1620 |
1675 |
N/A |
INTRINSIC |
low complexity region
|
1709 |
1726 |
N/A |
INTRINSIC |
low complexity region
|
1993 |
1998 |
N/A |
INTRINSIC |
low complexity region
|
2044 |
2055 |
N/A |
INTRINSIC |
low complexity region
|
2136 |
2157 |
N/A |
INTRINSIC |
low complexity region
|
2247 |
2260 |
N/A |
INTRINSIC |
low complexity region
|
2485 |
2499 |
N/A |
INTRINSIC |
low complexity region
|
2665 |
2682 |
N/A |
INTRINSIC |
low complexity region
|
2887 |
2899 |
N/A |
INTRINSIC |
low complexity region
|
2952 |
2964 |
N/A |
INTRINSIC |
Pfam:DUF3643
|
3470 |
3626 |
2.1e-71 |
PFAM |
low complexity region
|
3741 |
3766 |
N/A |
INTRINSIC |
low complexity region
|
3894 |
3913 |
N/A |
INTRINSIC |
low complexity region
|
3934 |
3952 |
N/A |
INTRINSIC |
low complexity region
|
3957 |
3966 |
N/A |
INTRINSIC |
low complexity region
|
4140 |
4151 |
N/A |
INTRINSIC |
low complexity region
|
4301 |
4312 |
N/A |
INTRINSIC |
low complexity region
|
4427 |
4438 |
N/A |
INTRINSIC |
UBCc
|
4586 |
4750 |
1.04e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182221
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182278
|
SMART Domains |
Protein: ENSMUSP00000138343 Gene: ENSMUSG00000024073
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
84 |
N/A |
INTRINSIC |
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
low complexity region
|
222 |
243 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182323
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182597
AA Change: S1635P
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138333 Gene: ENSMUSG00000024073 AA Change: S1635P
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
54 |
N/A |
INTRINSIC |
BIR
|
287 |
363 |
2.87e-24 |
SMART |
low complexity region
|
472 |
493 |
N/A |
INTRINSIC |
low complexity region
|
624 |
635 |
N/A |
INTRINSIC |
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
low complexity region
|
769 |
781 |
N/A |
INTRINSIC |
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1380 |
N/A |
INTRINSIC |
coiled coil region
|
1620 |
1675 |
N/A |
INTRINSIC |
low complexity region
|
1709 |
1726 |
N/A |
INTRINSIC |
low complexity region
|
1993 |
1998 |
N/A |
INTRINSIC |
low complexity region
|
2044 |
2059 |
N/A |
INTRINSIC |
low complexity region
|
2142 |
2163 |
N/A |
INTRINSIC |
low complexity region
|
2262 |
2275 |
N/A |
INTRINSIC |
low complexity region
|
2500 |
2514 |
N/A |
INTRINSIC |
low complexity region
|
2680 |
2697 |
N/A |
INTRINSIC |
low complexity region
|
2902 |
2914 |
N/A |
INTRINSIC |
low complexity region
|
2967 |
2979 |
N/A |
INTRINSIC |
Pfam:DUF3643
|
3485 |
3641 |
2.2e-71 |
PFAM |
low complexity region
|
3756 |
3781 |
N/A |
INTRINSIC |
low complexity region
|
3909 |
3928 |
N/A |
INTRINSIC |
low complexity region
|
3949 |
3967 |
N/A |
INTRINSIC |
low complexity region
|
3972 |
3981 |
N/A |
INTRINSIC |
low complexity region
|
4155 |
4166 |
N/A |
INTRINSIC |
low complexity region
|
4316 |
4327 |
N/A |
INTRINSIC |
low complexity region
|
4442 |
4453 |
N/A |
INTRINSIC |
UBCc
|
4601 |
4765 |
1.04e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182845
|
SMART Domains |
Protein: ENSMUSP00000138717 Gene: ENSMUSG00000024073
Domain | Start | End | E-Value | Type |
low complexity region
|
166 |
171 |
N/A |
INTRINSIC |
low complexity region
|
217 |
232 |
N/A |
INTRINSIC |
low complexity region
|
315 |
336 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182944
AA Change: S1631P
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138732 Gene: ENSMUSG00000024073 AA Change: S1631P
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
54 |
N/A |
INTRINSIC |
BIR
|
287 |
363 |
2.87e-24 |
SMART |
low complexity region
|
472 |
493 |
N/A |
INTRINSIC |
low complexity region
|
624 |
635 |
N/A |
INTRINSIC |
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
low complexity region
|
769 |
781 |
N/A |
INTRINSIC |
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1380 |
N/A |
INTRINSIC |
coiled coil region
|
1616 |
1671 |
N/A |
INTRINSIC |
low complexity region
|
1705 |
1722 |
N/A |
INTRINSIC |
low complexity region
|
1989 |
1994 |
N/A |
INTRINSIC |
low complexity region
|
2040 |
2055 |
N/A |
INTRINSIC |
low complexity region
|
2138 |
2159 |
N/A |
INTRINSIC |
low complexity region
|
2249 |
2262 |
N/A |
INTRINSIC |
low complexity region
|
2487 |
2501 |
N/A |
INTRINSIC |
low complexity region
|
2667 |
2684 |
N/A |
INTRINSIC |
low complexity region
|
2889 |
2901 |
N/A |
INTRINSIC |
low complexity region
|
2954 |
2966 |
N/A |
INTRINSIC |
Pfam:DUF3643
|
3472 |
3628 |
3.2e-71 |
PFAM |
low complexity region
|
3743 |
3768 |
N/A |
INTRINSIC |
low complexity region
|
3896 |
3915 |
N/A |
INTRINSIC |
low complexity region
|
3936 |
3954 |
N/A |
INTRINSIC |
low complexity region
|
3959 |
3968 |
N/A |
INTRINSIC |
low complexity region
|
4142 |
4153 |
N/A |
INTRINSIC |
low complexity region
|
4303 |
4314 |
N/A |
INTRINSIC |
low complexity region
|
4429 |
4440 |
N/A |
INTRINSIC |
UBCc
|
4588 |
4752 |
1.04e-25 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183224
AA Change: S1621P
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138270 Gene: ENSMUSG00000024073 AA Change: S1621P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
BIR
|
259 |
335 |
2.87e-24 |
SMART |
low complexity region
|
444 |
465 |
N/A |
INTRINSIC |
low complexity region
|
596 |
607 |
N/A |
INTRINSIC |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1355 |
1366 |
N/A |
INTRINSIC |
coiled coil region
|
1606 |
1661 |
N/A |
INTRINSIC |
low complexity region
|
1695 |
1712 |
N/A |
INTRINSIC |
low complexity region
|
1979 |
1984 |
N/A |
INTRINSIC |
low complexity region
|
2030 |
2041 |
N/A |
INTRINSIC |
low complexity region
|
2122 |
2143 |
N/A |
INTRINSIC |
low complexity region
|
2233 |
2246 |
N/A |
INTRINSIC |
low complexity region
|
2471 |
2485 |
N/A |
INTRINSIC |
low complexity region
|
2651 |
2668 |
N/A |
INTRINSIC |
low complexity region
|
2873 |
2885 |
N/A |
INTRINSIC |
low complexity region
|
2938 |
2950 |
N/A |
INTRINSIC |
Pfam:DUF3643
|
3456 |
3612 |
3.2e-71 |
PFAM |
low complexity region
|
3727 |
3752 |
N/A |
INTRINSIC |
low complexity region
|
3880 |
3899 |
N/A |
INTRINSIC |
low complexity region
|
3920 |
3938 |
N/A |
INTRINSIC |
low complexity region
|
3943 |
3952 |
N/A |
INTRINSIC |
low complexity region
|
4126 |
4137 |
N/A |
INTRINSIC |
low complexity region
|
4287 |
4298 |
N/A |
INTRINSIC |
low complexity region
|
4413 |
4424 |
N/A |
INTRINSIC |
UBCc
|
4572 |
4736 |
1.04e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mice exhibit perinatal lethality and exhibit placental defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef37 |
T |
C |
18: 61,501,888 |
E461G |
probably damaging |
Het |
Bfsp1 |
A |
T |
2: 143,845,959 |
V182D |
probably benign |
Het |
Chil6 |
T |
C |
3: 106,388,770 |
D383G |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,180,310 |
A175V |
probably benign |
Het |
Kcnh7 |
G |
T |
2: 62,764,663 |
R688S |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,691,289 |
C463S |
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,555,060 |
I191N |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,658,687 |
V1698A |
probably benign |
Het |
Olfr103 |
A |
T |
17: 37,337,027 |
D68E |
probably damaging |
Het |
Olfr1262 |
A |
T |
2: 90,003,240 |
N278I |
probably damaging |
Het |
Pappa2 |
C |
T |
1: 158,936,225 |
R572Q |
probably benign |
Het |
Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,977,719 |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,287,867 |
H453R |
probably damaging |
Het |
Prex1 |
G |
T |
2: 166,589,036 |
H615Q |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 109,080,666 |
I41N |
probably damaging |
Het |
Slc35f5 |
A |
G |
1: 125,568,598 |
S157G |
probably benign |
Het |
Sstr3 |
G |
A |
15: 78,539,987 |
R187W |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,808,158 |
K420E |
possibly damaging |
Het |
Tsnaxip1 |
A |
G |
8: 105,841,743 |
Y353C |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,305 |
I36M |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,548,648 |
V149D |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 41,102,959 |
E815K |
probably benign |
Het |
|
Other mutations in Birc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Birc6
|
APN |
17 |
74573563 |
splice site |
probably benign |
|
IGL00542:Birc6
|
APN |
17 |
74623771 |
splice site |
probably null |
|
IGL00659:Birc6
|
APN |
17 |
74660653 |
missense |
probably damaging |
1.00 |
IGL00710:Birc6
|
APN |
17 |
74609089 |
missense |
probably benign |
0.37 |
IGL00806:Birc6
|
APN |
17 |
74611529 |
missense |
possibly damaging |
0.85 |
IGL00848:Birc6
|
APN |
17 |
74696393 |
nonsense |
probably null |
|
IGL01071:Birc6
|
APN |
17 |
74566132 |
missense |
possibly damaging |
0.84 |
IGL01071:Birc6
|
APN |
17 |
74631701 |
missense |
probably damaging |
1.00 |
IGL01121:Birc6
|
APN |
17 |
74631038 |
missense |
probably benign |
0.08 |
IGL01132:Birc6
|
APN |
17 |
74603060 |
missense |
probably damaging |
1.00 |
IGL01323:Birc6
|
APN |
17 |
74622925 |
missense |
probably damaging |
1.00 |
IGL01444:Birc6
|
APN |
17 |
74631687 |
missense |
probably damaging |
1.00 |
IGL01511:Birc6
|
APN |
17 |
74627003 |
nonsense |
probably null |
|
IGL01576:Birc6
|
APN |
17 |
74677370 |
missense |
possibly damaging |
0.80 |
IGL01578:Birc6
|
APN |
17 |
74648197 |
missense |
probably benign |
0.08 |
IGL01649:Birc6
|
APN |
17 |
74604546 |
missense |
probably benign |
0.03 |
IGL01657:Birc6
|
APN |
17 |
74660611 |
missense |
probably damaging |
1.00 |
IGL01739:Birc6
|
APN |
17 |
74659221 |
missense |
probably benign |
|
IGL01756:Birc6
|
APN |
17 |
74640208 |
missense |
probably benign |
0.00 |
IGL01807:Birc6
|
APN |
17 |
74631037 |
missense |
probably benign |
|
IGL01885:Birc6
|
APN |
17 |
74604516 |
missense |
possibly damaging |
0.51 |
IGL01906:Birc6
|
APN |
17 |
74638358 |
missense |
probably damaging |
1.00 |
IGL01915:Birc6
|
APN |
17 |
74631720 |
missense |
probably benign |
0.34 |
IGL01998:Birc6
|
APN |
17 |
74579885 |
missense |
probably benign |
0.06 |
IGL02084:Birc6
|
APN |
17 |
74608282 |
missense |
probably benign |
0.45 |
IGL02086:Birc6
|
APN |
17 |
74639827 |
missense |
probably damaging |
1.00 |
IGL02161:Birc6
|
APN |
17 |
74548837 |
missense |
probably damaging |
0.99 |
IGL02195:Birc6
|
APN |
17 |
74697381 |
splice site |
probably benign |
|
IGL02283:Birc6
|
APN |
17 |
74599940 |
missense |
probably benign |
|
IGL02476:Birc6
|
APN |
17 |
74696391 |
missense |
possibly damaging |
0.81 |
IGL02493:Birc6
|
APN |
17 |
74652059 |
unclassified |
probably benign |
|
IGL02547:Birc6
|
APN |
17 |
74579645 |
missense |
probably benign |
0.21 |
IGL02678:Birc6
|
APN |
17 |
74649903 |
missense |
probably damaging |
1.00 |
IGL02713:Birc6
|
APN |
17 |
74579324 |
missense |
probably benign |
|
IGL02851:Birc6
|
APN |
17 |
74609189 |
missense |
probably damaging |
1.00 |
IGL02875:Birc6
|
APN |
17 |
74589718 |
missense |
probably damaging |
1.00 |
IGL02985:Birc6
|
APN |
17 |
74640190 |
missense |
probably benign |
0.00 |
IGL03004:Birc6
|
APN |
17 |
74612185 |
missense |
probably benign |
0.10 |
IGL03053:Birc6
|
APN |
17 |
74565972 |
missense |
probably damaging |
1.00 |
IGL03085:Birc6
|
APN |
17 |
74596950 |
missense |
probably damaging |
0.97 |
IGL03109:Birc6
|
APN |
17 |
74579334 |
missense |
possibly damaging |
0.71 |
IGL03143:Birc6
|
APN |
17 |
74598999 |
missense |
possibly damaging |
0.89 |
IGL03180:Birc6
|
APN |
17 |
74659231 |
missense |
probably benign |
|
IGL03221:Birc6
|
APN |
17 |
74627007 |
missense |
probably benign |
0.00 |
IGL03230:Birc6
|
APN |
17 |
74611070 |
missense |
probably damaging |
1.00 |
IGL03294:Birc6
|
APN |
17 |
74649886 |
missense |
probably benign |
0.02 |
IGL03399:Birc6
|
APN |
17 |
74594373 |
missense |
probably benign |
0.01 |
Badlands
|
UTSW |
17 |
74603036 |
missense |
probably damaging |
1.00 |
Big_sky
|
UTSW |
17 |
74528538 |
missense |
probably null |
0.33 |
bitterroot
|
UTSW |
17 |
74649696 |
missense |
probably damaging |
1.00 |
Black_hills
|
UTSW |
17 |
74692332 |
missense |
probably damaging |
1.00 |
bottomlands
|
UTSW |
17 |
74609659 |
missense |
probably damaging |
1.00 |
Chai
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
Dakota
|
UTSW |
17 |
74625104 |
critical splice acceptor site |
probably null |
|
Sempervirens
|
UTSW |
17 |
74642504 |
missense |
probably damaging |
1.00 |
E0370:Birc6
|
UTSW |
17 |
74677357 |
missense |
probably damaging |
1.00 |
G1citation:Birc6
|
UTSW |
17 |
74580382 |
missense |
possibly damaging |
0.82 |
G1citation:Birc6
|
UTSW |
17 |
74598044 |
missense |
probably damaging |
1.00 |
PIT4494001:Birc6
|
UTSW |
17 |
74626980 |
missense |
probably damaging |
1.00 |
R0081:Birc6
|
UTSW |
17 |
74643441 |
missense |
probably benign |
0.01 |
R0086:Birc6
|
UTSW |
17 |
74593166 |
missense |
possibly damaging |
0.54 |
R0089:Birc6
|
UTSW |
17 |
74638376 |
missense |
possibly damaging |
0.90 |
R0116:Birc6
|
UTSW |
17 |
74623746 |
splice site |
probably benign |
|
R0129:Birc6
|
UTSW |
17 |
74528760 |
missense |
probably benign |
0.05 |
R0196:Birc6
|
UTSW |
17 |
74580287 |
missense |
possibly damaging |
0.57 |
R0201:Birc6
|
UTSW |
17 |
74609327 |
missense |
possibly damaging |
0.92 |
R0207:Birc6
|
UTSW |
17 |
74662832 |
splice site |
probably benign |
|
R0295:Birc6
|
UTSW |
17 |
74613362 |
intron |
probably benign |
|
R0386:Birc6
|
UTSW |
17 |
74599340 |
missense |
probably damaging |
0.99 |
R0423:Birc6
|
UTSW |
17 |
74696297 |
missense |
probably damaging |
1.00 |
R0449:Birc6
|
UTSW |
17 |
74692295 |
missense |
probably damaging |
1.00 |
R0453:Birc6
|
UTSW |
17 |
74649754 |
missense |
probably damaging |
1.00 |
R0457:Birc6
|
UTSW |
17 |
74652028 |
missense |
probably benign |
|
R0457:Birc6
|
UTSW |
17 |
74662625 |
missense |
probably damaging |
1.00 |
R0564:Birc6
|
UTSW |
17 |
74625243 |
splice site |
probably benign |
|
R0575:Birc6
|
UTSW |
17 |
74689237 |
missense |
probably damaging |
1.00 |
R0582:Birc6
|
UTSW |
17 |
74643337 |
missense |
probably damaging |
1.00 |
R0624:Birc6
|
UTSW |
17 |
74580349 |
missense |
probably benign |
0.20 |
R0973:Birc6
|
UTSW |
17 |
74565861 |
missense |
probably damaging |
0.99 |
R1061:Birc6
|
UTSW |
17 |
74689312 |
missense |
probably damaging |
1.00 |
R1378:Birc6
|
UTSW |
17 |
74660455 |
missense |
probably damaging |
1.00 |
R1402:Birc6
|
UTSW |
17 |
74697533 |
splice site |
probably benign |
|
R1436:Birc6
|
UTSW |
17 |
74652705 |
missense |
probably damaging |
1.00 |
R1456:Birc6
|
UTSW |
17 |
74609290 |
missense |
probably benign |
0.35 |
R1465:Birc6
|
UTSW |
17 |
74623858 |
missense |
probably benign |
0.03 |
R1465:Birc6
|
UTSW |
17 |
74623858 |
missense |
probably benign |
0.03 |
R1474:Birc6
|
UTSW |
17 |
74579678 |
missense |
probably damaging |
0.98 |
R1479:Birc6
|
UTSW |
17 |
74634853 |
missense |
probably damaging |
1.00 |
R1486:Birc6
|
UTSW |
17 |
74639820 |
missense |
probably damaging |
1.00 |
R1499:Birc6
|
UTSW |
17 |
74612319 |
missense |
probably damaging |
1.00 |
R1515:Birc6
|
UTSW |
17 |
74528636 |
nonsense |
probably null |
|
R1549:Birc6
|
UTSW |
17 |
74662742 |
missense |
probably damaging |
1.00 |
R1559:Birc6
|
UTSW |
17 |
74692237 |
missense |
probably damaging |
1.00 |
R1573:Birc6
|
UTSW |
17 |
74660690 |
splice site |
probably benign |
|
R1615:Birc6
|
UTSW |
17 |
74609409 |
splice site |
probably null |
|
R1621:Birc6
|
UTSW |
17 |
74670250 |
missense |
probably benign |
|
R1680:Birc6
|
UTSW |
17 |
74548746 |
missense |
probably benign |
0.01 |
R1743:Birc6
|
UTSW |
17 |
74579756 |
missense |
possibly damaging |
0.95 |
R1774:Birc6
|
UTSW |
17 |
74640013 |
missense |
probably damaging |
1.00 |
R1775:Birc6
|
UTSW |
17 |
74612286 |
missense |
probably damaging |
1.00 |
R1818:Birc6
|
UTSW |
17 |
74649849 |
missense |
probably damaging |
1.00 |
R1836:Birc6
|
UTSW |
17 |
74614390 |
missense |
probably benign |
0.41 |
R1931:Birc6
|
UTSW |
17 |
74565982 |
missense |
probably damaging |
0.99 |
R1939:Birc6
|
UTSW |
17 |
74670337 |
missense |
probably damaging |
1.00 |
R1964:Birc6
|
UTSW |
17 |
74634885 |
missense |
possibly damaging |
0.94 |
R1994:Birc6
|
UTSW |
17 |
74598062 |
missense |
probably benign |
0.01 |
R2000:Birc6
|
UTSW |
17 |
74604619 |
missense |
possibly damaging |
0.46 |
R2042:Birc6
|
UTSW |
17 |
74609659 |
missense |
probably damaging |
1.00 |
R2090:Birc6
|
UTSW |
17 |
74662796 |
missense |
probably benign |
|
R2130:Birc6
|
UTSW |
17 |
74659154 |
splice site |
probably benign |
|
R2144:Birc6
|
UTSW |
17 |
74660413 |
missense |
possibly damaging |
0.71 |
R2145:Birc6
|
UTSW |
17 |
74660413 |
missense |
possibly damaging |
0.71 |
R2166:Birc6
|
UTSW |
17 |
74635795 |
missense |
probably benign |
0.02 |
R2180:Birc6
|
UTSW |
17 |
74612151 |
missense |
probably benign |
0.03 |
R2271:Birc6
|
UTSW |
17 |
74602971 |
missense |
probably benign |
0.06 |
R2272:Birc6
|
UTSW |
17 |
74602971 |
missense |
probably benign |
0.06 |
R2416:Birc6
|
UTSW |
17 |
74608219 |
missense |
possibly damaging |
0.83 |
R2420:Birc6
|
UTSW |
17 |
74660614 |
missense |
probably damaging |
1.00 |
R2421:Birc6
|
UTSW |
17 |
74660614 |
missense |
probably damaging |
1.00 |
R2422:Birc6
|
UTSW |
17 |
74660614 |
missense |
probably damaging |
1.00 |
R2513:Birc6
|
UTSW |
17 |
74647729 |
missense |
probably damaging |
0.97 |
R2912:Birc6
|
UTSW |
17 |
74692206 |
missense |
probably damaging |
1.00 |
R3771:Birc6
|
UTSW |
17 |
74618429 |
splice site |
probably benign |
|
R3772:Birc6
|
UTSW |
17 |
74618429 |
splice site |
probably benign |
|
R3829:Birc6
|
UTSW |
17 |
74655178 |
missense |
probably damaging |
1.00 |
R3913:Birc6
|
UTSW |
17 |
74573613 |
nonsense |
probably null |
|
R3915:Birc6
|
UTSW |
17 |
74579608 |
missense |
probably benign |
0.12 |
R3921:Birc6
|
UTSW |
17 |
74627019 |
missense |
probably damaging |
0.98 |
R3928:Birc6
|
UTSW |
17 |
74611175 |
missense |
possibly damaging |
0.91 |
R3928:Birc6
|
UTSW |
17 |
74638409 |
missense |
probably damaging |
1.00 |
R4111:Birc6
|
UTSW |
17 |
74566015 |
missense |
probably damaging |
1.00 |
R4155:Birc6
|
UTSW |
17 |
74596939 |
missense |
probably benign |
0.00 |
R4163:Birc6
|
UTSW |
17 |
74626980 |
missense |
probably damaging |
1.00 |
R4226:Birc6
|
UTSW |
17 |
74619840 |
critical splice donor site |
probably null |
|
R4227:Birc6
|
UTSW |
17 |
74619840 |
critical splice donor site |
probably null |
|
R4358:Birc6
|
UTSW |
17 |
74619668 |
splice site |
probably null |
|
R4524:Birc6
|
UTSW |
17 |
74641777 |
missense |
probably damaging |
1.00 |
R4605:Birc6
|
UTSW |
17 |
74639934 |
missense |
probably damaging |
1.00 |
R4619:Birc6
|
UTSW |
17 |
74640150 |
missense |
probably benign |
0.18 |
R4620:Birc6
|
UTSW |
17 |
74640150 |
missense |
probably benign |
0.18 |
R4762:Birc6
|
UTSW |
17 |
74629489 |
missense |
probably damaging |
1.00 |
R4814:Birc6
|
UTSW |
17 |
74649672 |
missense |
probably damaging |
1.00 |
R4849:Birc6
|
UTSW |
17 |
74647388 |
missense |
probably damaging |
0.99 |
R4869:Birc6
|
UTSW |
17 |
74586012 |
missense |
probably benign |
0.05 |
R4912:Birc6
|
UTSW |
17 |
74565905 |
missense |
probably damaging |
1.00 |
R4921:Birc6
|
UTSW |
17 |
74650099 |
missense |
probably damaging |
1.00 |
R4942:Birc6
|
UTSW |
17 |
74623050 |
missense |
probably damaging |
1.00 |
R4954:Birc6
|
UTSW |
17 |
74612031 |
missense |
probably damaging |
1.00 |
R4992:Birc6
|
UTSW |
17 |
74689256 |
missense |
probably benign |
0.44 |
R4994:Birc6
|
UTSW |
17 |
74594324 |
intron |
probably benign |
|
R5018:Birc6
|
UTSW |
17 |
74640059 |
missense |
probably damaging |
1.00 |
R5022:Birc6
|
UTSW |
17 |
74692332 |
missense |
probably damaging |
1.00 |
R5054:Birc6
|
UTSW |
17 |
74655325 |
missense |
probably damaging |
1.00 |
R5068:Birc6
|
UTSW |
17 |
74565972 |
missense |
probably damaging |
1.00 |
R5069:Birc6
|
UTSW |
17 |
74565972 |
missense |
probably damaging |
1.00 |
R5070:Birc6
|
UTSW |
17 |
74565972 |
missense |
probably damaging |
1.00 |
R5196:Birc6
|
UTSW |
17 |
74606141 |
splice site |
probably benign |
|
R5209:Birc6
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
R5212:Birc6
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
R5216:Birc6
|
UTSW |
17 |
74613470 |
missense |
probably damaging |
1.00 |
R5279:Birc6
|
UTSW |
17 |
74650047 |
missense |
probably damaging |
0.98 |
R5286:Birc6
|
UTSW |
17 |
74670247 |
missense |
probably damaging |
1.00 |
R5399:Birc6
|
UTSW |
17 |
74604578 |
missense |
possibly damaging |
0.75 |
R5482:Birc6
|
UTSW |
17 |
74641782 |
missense |
possibly damaging |
0.86 |
R5482:Birc6
|
UTSW |
17 |
74662690 |
missense |
probably damaging |
1.00 |
R5492:Birc6
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
R5504:Birc6
|
UTSW |
17 |
74655213 |
missense |
probably damaging |
1.00 |
R5519:Birc6
|
UTSW |
17 |
74580178 |
missense |
probably benign |
|
R5544:Birc6
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
R5608:Birc6
|
UTSW |
17 |
74613544 |
missense |
probably damaging |
0.99 |
R5623:Birc6
|
UTSW |
17 |
74528656 |
missense |
probably damaging |
0.99 |
R5701:Birc6
|
UTSW |
17 |
74697425 |
missense |
possibly damaging |
0.59 |
R5707:Birc6
|
UTSW |
17 |
74696404 |
missense |
probably damaging |
1.00 |
R5715:Birc6
|
UTSW |
17 |
74631620 |
missense |
probably damaging |
1.00 |
R5734:Birc6
|
UTSW |
17 |
74618424 |
splice site |
probably benign |
|
R5792:Birc6
|
UTSW |
17 |
74631053 |
missense |
probably benign |
0.05 |
R5809:Birc6
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
R5810:Birc6
|
UTSW |
17 |
74670374 |
missense |
probably damaging |
1.00 |
R5813:Birc6
|
UTSW |
17 |
74646502 |
missense |
probably damaging |
1.00 |
R5933:Birc6
|
UTSW |
17 |
74599237 |
missense |
probably damaging |
1.00 |
R5933:Birc6
|
UTSW |
17 |
74599238 |
missense |
probably damaging |
0.98 |
R5960:Birc6
|
UTSW |
17 |
74528765 |
missense |
probably damaging |
0.97 |
R5961:Birc6
|
UTSW |
17 |
74646601 |
missense |
probably damaging |
1.00 |
R5967:Birc6
|
UTSW |
17 |
74660439 |
missense |
probably damaging |
0.99 |
R5970:Birc6
|
UTSW |
17 |
74618502 |
missense |
possibly damaging |
0.95 |
R5977:Birc6
|
UTSW |
17 |
74603036 |
missense |
probably damaging |
1.00 |
R5982:Birc6
|
UTSW |
17 |
74648158 |
missense |
probably benign |
|
R6023:Birc6
|
UTSW |
17 |
74654377 |
missense |
probably benign |
0.24 |
R6034:Birc6
|
UTSW |
17 |
74615283 |
missense |
probably damaging |
1.00 |
R6034:Birc6
|
UTSW |
17 |
74615283 |
missense |
probably damaging |
1.00 |
R6243:Birc6
|
UTSW |
17 |
74609387 |
missense |
probably damaging |
0.96 |
R6294:Birc6
|
UTSW |
17 |
74689257 |
missense |
probably benign |
0.00 |
R6327:Birc6
|
UTSW |
17 |
74662779 |
missense |
probably damaging |
1.00 |
R6501:Birc6
|
UTSW |
17 |
74579281 |
missense |
probably damaging |
1.00 |
R6810:Birc6
|
UTSW |
17 |
74612220 |
missense |
possibly damaging |
0.63 |
R6822:Birc6
|
UTSW |
17 |
74580382 |
missense |
possibly damaging |
0.82 |
R6822:Birc6
|
UTSW |
17 |
74598044 |
missense |
probably damaging |
1.00 |
R6835:Birc6
|
UTSW |
17 |
74642504 |
missense |
probably damaging |
1.00 |
R6945:Birc6
|
UTSW |
17 |
74579531 |
missense |
probably benign |
0.04 |
R6957:Birc6
|
UTSW |
17 |
74579491 |
missense |
probably benign |
|
R6989:Birc6
|
UTSW |
17 |
74630989 |
missense |
probably benign |
0.18 |
R6991:Birc6
|
UTSW |
17 |
74562095 |
missense |
probably damaging |
1.00 |
R7019:Birc6
|
UTSW |
17 |
74609345 |
missense |
probably benign |
0.01 |
R7092:Birc6
|
UTSW |
17 |
74646745 |
missense |
probably damaging |
1.00 |
R7158:Birc6
|
UTSW |
17 |
74594376 |
missense |
probably benign |
0.25 |
R7204:Birc6
|
UTSW |
17 |
74640108 |
missense |
probably damaging |
1.00 |
R7267:Birc6
|
UTSW |
17 |
74585985 |
missense |
probably benign |
0.00 |
R7316:Birc6
|
UTSW |
17 |
74604494 |
missense |
probably damaging |
0.99 |
R7341:Birc6
|
UTSW |
17 |
74612074 |
missense |
probably damaging |
1.00 |
R7404:Birc6
|
UTSW |
17 |
74639794 |
missense |
possibly damaging |
0.73 |
R7449:Birc6
|
UTSW |
17 |
74702341 |
missense |
probably benign |
|
R7498:Birc6
|
UTSW |
17 |
74660470 |
missense |
probably damaging |
1.00 |
R7539:Birc6
|
UTSW |
17 |
74649696 |
missense |
probably damaging |
1.00 |
R7569:Birc6
|
UTSW |
17 |
74598082 |
missense |
possibly damaging |
0.71 |
R7574:Birc6
|
UTSW |
17 |
74579884 |
missense |
probably benign |
|
R7611:Birc6
|
UTSW |
17 |
74662718 |
missense |
probably damaging |
0.98 |
R7653:Birc6
|
UTSW |
17 |
74647734 |
missense |
possibly damaging |
0.91 |
R7716:Birc6
|
UTSW |
17 |
74562061 |
missense |
probably damaging |
0.99 |
R7728:Birc6
|
UTSW |
17 |
74622105 |
missense |
probably benign |
0.01 |
R7810:Birc6
|
UTSW |
17 |
74548820 |
missense |
probably damaging |
0.98 |
R7828:Birc6
|
UTSW |
17 |
74579506 |
missense |
probably damaging |
0.97 |
R7881:Birc6
|
UTSW |
17 |
74641671 |
missense |
probably damaging |
0.99 |
R7896:Birc6
|
UTSW |
17 |
74622082 |
missense |
probably damaging |
0.99 |
R7950:Birc6
|
UTSW |
17 |
74593100 |
missense |
probably damaging |
1.00 |
R7988:Birc6
|
UTSW |
17 |
74599373 |
splice site |
probably null |
|
R8073:Birc6
|
UTSW |
17 |
74603085 |
missense |
probably damaging |
1.00 |
R8128:Birc6
|
UTSW |
17 |
74609258 |
missense |
probably damaging |
1.00 |
R8167:Birc6
|
UTSW |
17 |
74643394 |
missense |
probably damaging |
1.00 |
R8236:Birc6
|
UTSW |
17 |
74611131 |
missense |
probably damaging |
1.00 |
R8237:Birc6
|
UTSW |
17 |
74611131 |
missense |
probably damaging |
1.00 |
R8255:Birc6
|
UTSW |
17 |
74662780 |
missense |
probably damaging |
0.99 |
R8259:Birc6
|
UTSW |
17 |
74598078 |
missense |
probably benign |
0.01 |
R8297:Birc6
|
UTSW |
17 |
74625104 |
critical splice acceptor site |
probably null |
|
R8376:Birc6
|
UTSW |
17 |
74589640 |
missense |
probably benign |
0.18 |
R8413:Birc6
|
UTSW |
17 |
74546393 |
missense |
possibly damaging |
0.54 |
R8503:Birc6
|
UTSW |
17 |
74692244 |
missense |
probably damaging |
1.00 |
R8504:Birc6
|
UTSW |
17 |
74652005 |
missense |
probably damaging |
0.98 |
R8543:Birc6
|
UTSW |
17 |
74565865 |
missense |
probably damaging |
1.00 |
R8550:Birc6
|
UTSW |
17 |
74557954 |
missense |
probably benign |
0.37 |
R8551:Birc6
|
UTSW |
17 |
74557954 |
missense |
probably benign |
0.37 |
R8556:Birc6
|
UTSW |
17 |
74557954 |
missense |
probably benign |
0.37 |
R8683:Birc6
|
UTSW |
17 |
74609119 |
missense |
possibly damaging |
0.74 |
R8751:Birc6
|
UTSW |
17 |
74648140 |
missense |
probably damaging |
0.98 |
R8803:Birc6
|
UTSW |
17 |
74652038 |
missense |
probably damaging |
0.99 |
R8806:Birc6
|
UTSW |
17 |
74642316 |
missense |
probably damaging |
1.00 |
R8825:Birc6
|
UTSW |
17 |
74613505 |
missense |
probably damaging |
0.99 |
R8888:Birc6
|
UTSW |
17 |
74528538 |
missense |
probably null |
0.33 |
R8972:Birc6
|
UTSW |
17 |
74702318 |
missense |
probably benign |
0.05 |
R9069:Birc6
|
UTSW |
17 |
74561265 |
splice site |
probably benign |
|
R9111:Birc6
|
UTSW |
17 |
74659345 |
missense |
probably damaging |
0.99 |
R9130:Birc6
|
UTSW |
17 |
74612151 |
missense |
|
|
R9352:Birc6
|
UTSW |
17 |
74658352 |
critical splice donor site |
probably null |
|
R9354:Birc6
|
UTSW |
17 |
74614406 |
missense |
probably benign |
|
R9432:Birc6
|
UTSW |
17 |
74659221 |
missense |
probably benign |
|
R9446:Birc6
|
UTSW |
17 |
74618496 |
missense |
probably damaging |
1.00 |
R9485:Birc6
|
UTSW |
17 |
74638403 |
missense |
probably damaging |
1.00 |
R9499:Birc6
|
UTSW |
17 |
74609069 |
missense |
probably benign |
0.05 |
R9551:Birc6
|
UTSW |
17 |
74609069 |
missense |
probably benign |
0.05 |
R9552:Birc6
|
UTSW |
17 |
74609069 |
missense |
probably benign |
0.05 |
R9585:Birc6
|
UTSW |
17 |
74609270 |
missense |
probably damaging |
1.00 |
R9647:Birc6
|
UTSW |
17 |
74692310 |
missense |
probably damaging |
1.00 |
R9648:Birc6
|
UTSW |
17 |
74631701 |
missense |
probably damaging |
1.00 |
R9667:Birc6
|
UTSW |
17 |
74697425 |
missense |
possibly damaging |
0.59 |
R9696:Birc6
|
UTSW |
17 |
74640297 |
missense |
probably damaging |
0.99 |
RF016:Birc6
|
UTSW |
17 |
74689324 |
missense |
probably damaging |
1.00 |
Z1088:Birc6
|
UTSW |
17 |
74611542 |
missense |
probably damaging |
0.99 |
Z1177:Birc6
|
UTSW |
17 |
74647280 |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCATGTAACTCTGTGTACC -3'
(R):5'- CCTCAATTTTCTGTTGAAACCGAC -3'
Sequencing Primer
(F):5'- GGCCATGTAACTCTGTGTACCTTTTC -3'
(R):5'- TCTGTTGAAACCGACTAGCTCAG -3'
|
Posted On |
2015-02-05 |