Incidental Mutation 'R5330:Blm'
| ID |
423149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
042912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80454733-80535119 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80458936 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 55
(E55G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
AA Change: E1317G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: E1317G
| 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 benign
Transcript: ENSMUST00000170315
AA Change: E1320G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: E1320G
| 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: ENSMUST00000206518
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206901
AA Change: E55G
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206948
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206989
|
| Meta Mutation Damage Score |
0.0614 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (95/96) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,638,416 (GRCm38) |
D83G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,503,377 (GRCm38) |
I833N |
probably benign |
Het |
| Adam6b |
C |
A |
12: 113,490,580 (GRCm38) |
P339H |
possibly damaging |
Het |
| Adgrb2 |
A |
T |
4: 130,022,202 (GRCm38) |
H1505L |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,126,724 (GRCm38) |
F122I |
probably damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,615,926 (GRCm38) |
L500* |
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,025,946 (GRCm38) |
|
probably null |
Het |
| Cdca7 |
T |
C |
2: 72,484,698 (GRCm38) |
C311R |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,798,495 (GRCm38) |
S187P |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,078,955 (GRCm38) |
V587E |
probably damaging |
Het |
| Commd10 |
T |
C |
18: 46,960,430 (GRCm38) |
V19A |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,332,115 (GRCm38) |
T48I |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,913,989 (GRCm38) |
Y203* |
probably null |
Het |
| Dchs1 |
A |
T |
7: 105,754,602 (GRCm38) |
V2911E |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,773,830 (GRCm38) |
E1472K |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,943,648 (GRCm38) |
T3514A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,074,590 (GRCm38) |
I3074F |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Elp1 |
T |
C |
4: 56,800,001 (GRCm38) |
T42A |
probably benign |
Het |
| Fam131c |
A |
T |
4: 141,382,830 (GRCm38) |
T180S |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,479,906 (GRCm38) |
E427G |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,583 (GRCm38) |
K236E |
possibly damaging |
Het |
| Gm10152 |
A |
T |
7: 144,763,546 (GRCm38) |
|
noncoding transcript |
Het |
| Gm10313 |
T |
A |
8: 46,255,453 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5414 |
C |
A |
15: 101,624,664 (GRCm38) |
V443F |
probably damaging |
Het |
| Gm7334 |
T |
C |
17: 50,699,132 (GRCm38) |
S149P |
possibly damaging |
Het |
| Grik2 |
G |
A |
10: 49,132,771 (GRCm38) |
T740M |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,197,354 (GRCm38) |
Y930C |
probably damaging |
Het |
| Hepacam2 |
T |
C |
6: 3,483,377 (GRCm38) |
T211A |
probably benign |
Het |
| Herc4 |
G |
T |
10: 63,307,799 (GRCm38) |
E703* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,131,420 (GRCm38) |
K1254R |
probably damaging |
Het |
| Hras |
T |
C |
7: 141,192,940 (GRCm38) |
M1V |
probably null |
Het |
| Il23r |
T |
G |
6: 67,423,495 (GRCm38) |
Q617P |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,411,329 (GRCm38) |
T789A |
probably damaging |
Het |
| Kcnj12 |
A |
G |
11: 61,070,186 (GRCm38) |
K437E |
probably benign |
Het |
| Lct |
A |
T |
1: 128,298,529 (GRCm38) |
D1374E |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,275,733 (GRCm38) |
C104* |
probably null |
Het |
| Lurap1 |
G |
A |
4: 116,144,404 (GRCm38) |
L31F |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,436,983 (GRCm38) |
P321S |
probably damaging |
Het |
| Med18 |
A |
G |
4: 132,463,066 (GRCm38) |
|
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,095,812 (GRCm38) |
S5G |
probably benign |
Het |
| Mrgprb3 |
T |
C |
7: 48,642,934 (GRCm38) |
T290A |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,091,858 (GRCm38) |
|
probably benign |
Het |
| Negr1 |
A |
T |
3: 157,069,276 (GRCm38) |
K210* |
probably null |
Het |
| Nktr |
T |
C |
9: 121,752,768 (GRCm38) |
|
probably benign |
Het |
| Nob1 |
T |
G |
8: 107,416,249 (GRCm38) |
T267P |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,369,904 (GRCm38) |
E307G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,490,081 (GRCm38) |
T796A |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,806,516 (GRCm38) |
L1148I |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,533,046 (GRCm38) |
V988E |
probably damaging |
Het |
| Pcdha4 |
G |
A |
18: 36,954,702 (GRCm38) |
R646H |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,041,302 (GRCm38) |
L187I |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 109,934,035 (GRCm38) |
D774G |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,140,646 (GRCm38) |
Y403H |
probably damaging |
Het |
| Plcl2 |
G |
A |
17: 50,509,848 (GRCm38) |
A81T |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,747,275 (GRCm38) |
N123D |
probably benign |
Het |
| Psma5 |
T |
G |
3: 108,268,070 (GRCm38) |
V146G |
possibly damaging |
Het |
| Ptprk |
A |
T |
10: 28,587,080 (GRCm38) |
D189V |
probably damaging |
Het |
| Relb |
C |
T |
7: 19,606,705 (GRCm38) |
G509S |
possibly damaging |
Het |
| Rgs11 |
A |
T |
17: 26,202,973 (GRCm38) |
M1L |
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,245,468 (GRCm38) |
T313S |
probably benign |
Het |
| Ripply2 |
T |
A |
9: 87,015,638 (GRCm38) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,381,633 (GRCm38) |
V1011A |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,515,580 (GRCm38) |
G230D |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,186,009 (GRCm38) |
Y314N |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,589,494 (GRCm38) |
|
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,230,596 (GRCm38) |
L153Q |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,879,455 (GRCm38) |
I406T |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,423,195 (GRCm38) |
D355G |
probably benign |
Het |
| Snta1 |
C |
A |
2: 154,378,020 (GRCm38) |
E403* |
probably null |
Het |
| Socs7 |
A |
G |
11: 97,378,026 (GRCm38) |
D382G |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,700,403 (GRCm38) |
C1304S |
possibly damaging |
Het |
| Srebf2 |
T |
A |
15: 82,196,208 (GRCm38) |
I834N |
possibly damaging |
Het |
| Steap1 |
G |
T |
5: 5,740,422 (GRCm38) |
H175Q |
probably damaging |
Het |
| Sult2a8 |
T |
C |
7: 14,413,754 (GRCm38) |
E204G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,733,528 (GRCm38) |
S524P |
probably damaging |
Het |
| Tbc1d9b |
C |
T |
11: 50,146,313 (GRCm38) |
A263V |
probably benign |
Het |
| Tecta |
A |
C |
9: 42,337,856 (GRCm38) |
D1903E |
probably damaging |
Het |
| Tmem222 |
A |
C |
4: 133,277,624 (GRCm38) |
M34R |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,542,018 (GRCm38) |
T187A |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,635,543 (GRCm38) |
Y253H |
probably damaging |
Het |
| Trpv5 |
G |
A |
6: 41,660,332 (GRCm38) |
R358C |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 80,260,509 (GRCm38) |
V800A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,728,381 (GRCm38) |
G2613E |
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,863,960 (GRCm38) |
Q420* |
probably null |
Het |
| Zranb3 |
G |
A |
1: 127,959,720 (GRCm38) |
P990L |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 13,259,985 (GRCm38) |
D748V |
probably damaging |
Het |
|
| Other mutations in Blm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Blm
|
APN |
7 |
80,474,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01658:Blm
|
APN |
7 |
80,463,941 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02048:Blm
|
APN |
7 |
80,502,961 (GRCm38) |
splice site |
probably benign |
|
|
IGL02060:Blm
|
APN |
7 |
80,514,580 (GRCm38) |
splice site |
probably benign |
|
|
IGL02063:Blm
|
APN |
7 |
80,509,419 (GRCm38) |
nonsense |
probably null |
|
|
IGL02102:Blm
|
APN |
7 |
80,469,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02420:Blm
|
APN |
7 |
80,496,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02452:Blm
|
APN |
7 |
80,503,377 (GRCm38) |
splice site |
probably null |
|
|
IGL02566:Blm
|
APN |
7 |
80,474,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03387:Blm
|
APN |
7 |
80,494,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:Blm
|
UTSW |
7 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
|
FR4304:Blm
|
UTSW |
7 |
80,463,773 (GRCm38) |
frame shift |
probably null |
|
|
FR4340:Blm
|
UTSW |
7 |
80,512,910 (GRCm38) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,463,767 (GRCm38) |
unclassified |
probably benign |
|
|
FR4449:Blm
|
UTSW |
7 |
80,512,908 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Blm
|
UTSW |
7 |
80,463,769 (GRCm38) |
frame shift |
probably null |
|
|
FR4589:Blm
|
UTSW |
7 |
80,463,770 (GRCm38) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,463,774 (GRCm38) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,463,771 (GRCm38) |
frame shift |
probably null |
|
|
FR4976:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Blm
|
UTSW |
7 |
80,463,767 (GRCm38) |
unclassified |
probably benign |
|
|
R0133:Blm
|
UTSW |
7 |
80,502,367 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0194:Blm
|
UTSW |
7 |
80,464,946 (GRCm38) |
unclassified |
probably benign |
|
|
R0526:Blm
|
UTSW |
7 |
80,505,893 (GRCm38) |
nonsense |
probably null |
|
|
R0673:Blm
|
UTSW |
7 |
80,499,751 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0972:Blm
|
UTSW |
7 |
80,513,370 (GRCm38) |
missense |
probably benign |
|
|
R0980:Blm
|
UTSW |
7 |
80,499,958 (GRCm38) |
splice site |
probably null |
|
|
R1120:Blm
|
UTSW |
7 |
80,481,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1301:Blm
|
UTSW |
7 |
80,455,417 (GRCm38) |
nonsense |
probably null |
|
|
R1769:Blm
|
UTSW |
7 |
80,513,370 (GRCm38) |
missense |
probably benign |
|
|
R1866:Blm
|
UTSW |
7 |
80,494,114 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1874:Blm
|
UTSW |
7 |
80,497,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1966:Blm
|
UTSW |
7 |
80,513,186 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1991:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
|
R2013:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2014:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2015:Blm
|
UTSW |
7 |
80,502,399 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2016:Blm
|
UTSW |
7 |
80,505,926 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2103:Blm
|
UTSW |
7 |
80,505,949 (GRCm38) |
splice site |
probably null |
|
|
R2161:Blm
|
UTSW |
7 |
80,481,370 (GRCm38) |
splice site |
probably null |
|
|
R2215:Blm
|
UTSW |
7 |
80,499,847 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R3689:Blm
|
UTSW |
7 |
80,513,079 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4049:Blm
|
UTSW |
7 |
80,502,862 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4155:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R4695:Blm
|
UTSW |
7 |
80,494,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4774:Blm
|
UTSW |
7 |
80,463,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4833:Blm
|
UTSW |
7 |
80,466,826 (GRCm38) |
missense |
probably benign |
|
|
R4835:Blm
|
UTSW |
7 |
80,509,546 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4994:Blm
|
UTSW |
7 |
80,458,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5039:Blm
|
UTSW |
7 |
80,505,873 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5375:Blm
|
UTSW |
7 |
80,513,229 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5408:Blm
|
UTSW |
7 |
80,502,622 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5574:Blm
|
UTSW |
7 |
80,499,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5606:Blm
|
UTSW |
7 |
80,460,832 (GRCm38) |
splice site |
probably null |
|
|
R5702:Blm
|
UTSW |
7 |
80,458,927 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5809:Blm
|
UTSW |
7 |
80,464,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6114:Blm
|
UTSW |
7 |
80,513,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6157:Blm
|
UTSW |
7 |
80,512,985 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6163:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R6254:Blm
|
UTSW |
7 |
80,480,342 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6266:Blm
|
UTSW |
7 |
80,499,940 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6364:Blm
|
UTSW |
7 |
80,494,526 (GRCm38) |
nonsense |
probably null |
|
|
R6446:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R6502:Blm
|
UTSW |
7 |
80,481,475 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6700:Blm
|
UTSW |
7 |
80,463,850 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7002:Blm
|
UTSW |
7 |
80,469,753 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7105:Blm
|
UTSW |
7 |
80,499,768 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7320:Blm
|
UTSW |
7 |
80,455,354 (GRCm38) |
nonsense |
probably null |
|
|
R7465:Blm
|
UTSW |
7 |
80,513,115 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7561:Blm
|
UTSW |
7 |
80,502,528 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8500:Blm
|
UTSW |
7 |
80,455,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8543:Blm
|
UTSW |
7 |
80,494,216 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,907 (GRCm38) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,918 (GRCm38) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,512,919 (GRCm38) |
small insertion |
probably benign |
|
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,512,931 (GRCm38) |
small insertion |
probably benign |
|
|
R8860:Blm
|
UTSW |
7 |
80,494,528 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8928:Blm
|
UTSW |
7 |
80,512,904 (GRCm38) |
small deletion |
probably benign |
|
|
R9089:Blm
|
UTSW |
7 |
80,513,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9363:Blm
|
UTSW |
7 |
80,458,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF001:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,512,903 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,927 (GRCm38) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
small insertion |
probably benign |
|
|
RF007:Blm
|
UTSW |
7 |
80,512,933 (GRCm38) |
nonsense |
probably null |
|
|
RF016:Blm
|
UTSW |
7 |
80,512,926 (GRCm38) |
nonsense |
probably null |
|
|
RF018:Blm
|
UTSW |
7 |
80,512,926 (GRCm38) |
nonsense |
probably null |
|
|
RF027:Blm
|
UTSW |
7 |
80,512,914 (GRCm38) |
frame shift |
probably null |
|
|
RF028:Blm
|
UTSW |
7 |
80,512,905 (GRCm38) |
nonsense |
probably null |
|
|
RF031:Blm
|
UTSW |
7 |
80,512,923 (GRCm38) |
small insertion |
probably benign |
|
|
RF031:Blm
|
UTSW |
7 |
80,512,906 (GRCm38) |
small insertion |
probably benign |
|
|
RF032:Blm
|
UTSW |
7 |
80,512,930 (GRCm38) |
small insertion |
probably benign |
|
|
RF036:Blm
|
UTSW |
7 |
80,512,914 (GRCm38) |
nonsense |
probably null |
|
|
RF044:Blm
|
UTSW |
7 |
80,512,930 (GRCm38) |
small insertion |
probably benign |
|
|
RF053:Blm
|
UTSW |
7 |
80,512,921 (GRCm38) |
small insertion |
probably benign |
|
|
RF064:Blm
|
UTSW |
7 |
80,512,923 (GRCm38) |
nonsense |
probably null |
|
|
X0061:Blm
|
UTSW |
7 |
80,458,850 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTATATGCACCCCATC -3'
(R):5'- TGTGAACTAAACCTGACATCTCCAG -3'
Sequencing Primer
(F):5'- GCTATATGCACCCCATCCTCCC -3'
(R):5'- AACCTGACATCTCCAGTTGAGTTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation