Incidental Mutation 'R2015:Blm'
ID |
222814 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Blm
|
Ensembl Gene |
ENSMUSG00000030528 |
Gene Name |
Bloom syndrome, RecQ like helicase |
Synonyms |
|
MMRRC Submission |
040024-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2015 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80152147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 600
(E600G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
AlphaFold |
O88700 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081314
AA Change: E597G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080062 Gene: ENSMUSG00000030528 AA Change: E597G
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
low complexity region
|
142 |
169 |
N/A |
INTRINSIC |
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
Pfam:BDHCT
|
376 |
416 |
5.5e-27 |
PFAM |
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
DEXDc
|
672 |
873 |
1.59e-29 |
SMART |
HELICc
|
910 |
992 |
1.29e-24 |
SMART |
RQC
|
1084 |
1198 |
1.43e-15 |
SMART |
HRDC
|
1217 |
1297 |
9.4e-20 |
SMART |
low complexity region
|
1357 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1378 |
1392 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170315
AA Change: E600G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127995 Gene: ENSMUSG00000030528 AA Change: E600G
Domain | Start | End | E-Value | Type |
Pfam:BLM_N
|
4 |
375 |
1.1e-161 |
PFAM |
Pfam:BDHCT
|
380 |
419 |
6.4e-25 |
PFAM |
Pfam:BDHCT_assoc
|
433 |
658 |
8.8e-108 |
PFAM |
DEXDc
|
675 |
876 |
1.59e-29 |
SMART |
HELICc
|
913 |
995 |
1.29e-24 |
SMART |
Pfam:RecQ_Zn_bind
|
1006 |
1078 |
1.5e-19 |
PFAM |
RQC
|
1087 |
1201 |
1.43e-15 |
SMART |
HRDC
|
1220 |
1300 |
9.4e-20 |
SMART |
low complexity region
|
1360 |
1374 |
N/A |
INTRINSIC |
low complexity region
|
1381 |
1395 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205263
|
Meta Mutation Damage Score |
0.1709 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,022,672 (GRCm39) |
M1022K |
probably benign |
Het |
Abhd4 |
T |
A |
14: 54,500,289 (GRCm39) |
H74Q |
probably damaging |
Het |
Actg1 |
A |
G |
11: 120,237,636 (GRCm39) |
S49P |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
Aire |
T |
C |
10: 77,878,792 (GRCm39) |
D85G |
probably damaging |
Het |
Akr1c18 |
T |
A |
13: 4,195,308 (GRCm39) |
D50V |
probably damaging |
Het |
Ankrd13a |
C |
A |
5: 114,930,170 (GRCm39) |
A185E |
probably damaging |
Het |
Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
Armc8 |
A |
T |
9: 99,365,158 (GRCm39) |
C661* |
probably null |
Het |
Bbs10 |
C |
T |
10: 111,136,716 (GRCm39) |
Q610* |
probably null |
Het |
Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
Cdk14 |
T |
C |
5: 5,430,082 (GRCm39) |
K15R |
probably benign |
Het |
Cdr1 |
A |
G |
X: 60,228,420 (GRCm39) |
F249L |
probably benign |
Het |
Cep250 |
A |
C |
2: 155,823,373 (GRCm39) |
H1009P |
probably damaging |
Het |
Cfap97d1 |
C |
A |
11: 101,878,044 (GRCm39) |
H35Q |
probably damaging |
Het |
Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
Col19a1 |
C |
G |
1: 24,598,834 (GRCm39) |
G53A |
unknown |
Het |
Cpne1 |
G |
A |
2: 155,920,308 (GRCm39) |
R166C |
probably damaging |
Het |
Dtx3l |
G |
A |
16: 35,756,797 (GRCm39) |
H129Y |
probably benign |
Het |
Ercc3 |
A |
G |
18: 32,381,482 (GRCm39) |
T433A |
probably benign |
Het |
Gm9936 |
T |
A |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
Grina |
T |
C |
15: 76,132,734 (GRCm39) |
V167A |
probably damaging |
Het |
H2ac25 |
T |
A |
11: 58,845,754 (GRCm39) |
L64Q |
probably damaging |
Het |
Hcfc2 |
A |
G |
10: 82,574,814 (GRCm39) |
N618D |
probably benign |
Het |
Herpud1 |
T |
C |
8: 95,118,834 (GRCm39) |
V196A |
probably benign |
Het |
Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
Igll1 |
A |
G |
16: 16,681,639 (GRCm39) |
S39P |
probably benign |
Het |
Kdm5a |
T |
C |
6: 120,408,951 (GRCm39) |
S1545P |
probably benign |
Het |
Klra8 |
C |
A |
6: 130,092,536 (GRCm39) |
C255F |
probably damaging |
Het |
Krtap4-6 |
A |
T |
11: 99,556,398 (GRCm39) |
C110S |
unknown |
Het |
Lef1 |
T |
A |
3: 130,905,236 (GRCm39) |
I39N |
probably damaging |
Het |
Lnpep |
G |
A |
17: 17,799,325 (GRCm39) |
T110I |
probably damaging |
Het |
Lrp1 |
T |
A |
10: 127,376,563 (GRCm39) |
T4282S |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,457,337 (GRCm39) |
|
probably null |
Het |
Ly6g5b |
A |
C |
17: 35,333,654 (GRCm39) |
S53A |
possibly damaging |
Het |
M6pr |
T |
G |
6: 122,290,332 (GRCm39) |
N98K |
probably damaging |
Het |
Mal2 |
T |
C |
15: 54,464,136 (GRCm39) |
*176Q |
probably null |
Het |
Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
Marchf1 |
C |
A |
8: 66,574,473 (GRCm39) |
N11K |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,240,007 (GRCm39) |
I338F |
probably benign |
Het |
Mcm3 |
A |
G |
1: 20,873,804 (GRCm39) |
L772P |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,742,337 (GRCm39) |
G176D |
probably damaging |
Het |
Mier2 |
A |
T |
10: 79,377,036 (GRCm39) |
|
probably null |
Het |
Mogs |
C |
T |
6: 83,094,631 (GRCm39) |
R483* |
probably null |
Het |
Msl2 |
G |
T |
9: 100,957,304 (GRCm39) |
|
probably benign |
Het |
Naa16 |
A |
T |
14: 79,582,499 (GRCm39) |
M530K |
probably damaging |
Het |
Nde1 |
A |
T |
16: 13,987,321 (GRCm39) |
|
probably benign |
Het |
Ndufb10 |
T |
C |
17: 24,941,503 (GRCm39) |
|
probably null |
Het |
Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
Npffr2 |
T |
A |
5: 89,730,751 (GRCm39) |
I227N |
probably damaging |
Het |
Nup210l |
T |
A |
3: 90,092,739 (GRCm39) |
L1231Q |
probably damaging |
Het |
Or2f1 |
A |
G |
6: 42,721,784 (GRCm39) |
E271G |
probably damaging |
Het |
Or7a39 |
T |
C |
10: 78,715,222 (GRCm39) |
I72T |
possibly damaging |
Het |
Pclo |
C |
A |
5: 14,571,515 (GRCm39) |
P300Q |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
Plekha5 |
T |
A |
6: 140,480,290 (GRCm39) |
|
probably null |
Het |
Pls1 |
A |
G |
9: 95,643,418 (GRCm39) |
V527A |
possibly damaging |
Het |
Ppfia2 |
T |
C |
10: 106,310,538 (GRCm39) |
M15T |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,581,602 (GRCm39) |
C152* |
probably null |
Het |
Ptprq |
T |
G |
10: 107,503,283 (GRCm39) |
K792Q |
probably damaging |
Het |
Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
Rbbp8 |
T |
C |
18: 11,853,681 (GRCm39) |
M296T |
probably benign |
Het |
Rfc3 |
T |
C |
5: 151,571,003 (GRCm39) |
|
probably null |
Het |
Rnf17 |
A |
G |
14: 56,724,426 (GRCm39) |
N1090S |
probably benign |
Het |
Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
Sdsl |
G |
A |
5: 120,601,218 (GRCm39) |
T18M |
probably damaging |
Het |
Sepsecs |
T |
A |
5: 52,804,966 (GRCm39) |
Q365L |
probably benign |
Het |
Sgta |
A |
T |
10: 80,887,130 (GRCm39) |
V45E |
probably damaging |
Het |
Slc25a46 |
A |
T |
18: 31,742,778 (GRCm39) |
H29Q |
probably benign |
Het |
Slc2a8 |
A |
C |
2: 32,871,392 (GRCm39) |
V136G |
probably benign |
Het |
Smg7 |
A |
T |
1: 152,736,259 (GRCm39) |
N166K |
probably damaging |
Het |
Spata21 |
C |
T |
4: 140,834,640 (GRCm39) |
Q505* |
probably null |
Het |
Strn4 |
T |
C |
7: 16,566,953 (GRCm39) |
S458P |
possibly damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,183,885 (GRCm39) |
T248M |
probably damaging |
Het |
Trabd |
T |
A |
15: 88,968,929 (GRCm39) |
M149K |
possibly damaging |
Het |
Trpv3 |
A |
T |
11: 73,170,653 (GRCm39) |
N178Y |
probably damaging |
Het |
Try5 |
C |
T |
6: 41,291,585 (GRCm39) |
|
probably null |
Het |
Tsg101 |
C |
T |
7: 46,558,652 (GRCm39) |
|
probably null |
Het |
Ube3b |
A |
G |
5: 114,549,210 (GRCm39) |
E738G |
probably damaging |
Het |
Unc13d |
A |
G |
11: 115,959,581 (GRCm39) |
S631P |
probably damaging |
Het |
Unc5d |
T |
C |
8: 29,249,007 (GRCm39) |
T297A |
probably damaging |
Het |
Usp18 |
A |
T |
6: 121,245,509 (GRCm39) |
E1V |
probably damaging |
Het |
Vapb |
C |
A |
2: 173,613,391 (GRCm39) |
P97T |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,589,356 (GRCm39) |
D66V |
probably benign |
Het |
Vmn2r19 |
T |
A |
6: 123,292,954 (GRCm39) |
M332K |
probably benign |
Het |
Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
Vwde |
C |
A |
6: 13,208,337 (GRCm39) |
G182C |
possibly damaging |
Het |
Wdfy3 |
A |
C |
5: 102,008,352 (GRCm39) |
S2778A |
probably null |
Het |
Zbtb2 |
T |
A |
10: 4,319,757 (GRCm39) |
I90F |
possibly damaging |
Het |
Zfp518b |
C |
A |
5: 38,829,345 (GRCm39) |
V887F |
probably benign |
Het |
Zfp790 |
A |
G |
7: 29,528,286 (GRCm39) |
T324A |
probably benign |
Het |
Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
possibly damaging |
Het |
|
Other mutations in Blm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
R0972:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2014:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATGTAGCGCTCAGGCAATG -3'
(R):5'- CTCAGAGTAAACAAGCTGCTTC -3'
Sequencing Primer
(F):5'- GACTGCTGCTATGCTATACAAC -3'
(R):5'- CAAGCTGCTTCAGGATGGAAC -3'
|
Posted On |
2014-08-25 |