Incidental Mutation 'IGL02684:Blk'
| ID |
303490 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Blk
|
| Ensembl Gene |
ENSMUSG00000014453 |
| Gene Name |
B lymphoid kinase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02684
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63610285-63654486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63617143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 288
(E288G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014597]
|
| AlphaFold |
P16277 |
| PDB Structure |
NMR ENSEMBLE OF BLK SH2 DOMAIN, 20 STRUCTURES [SOLUTION NMR]
NMR ENSEMBLE OF BLK SH2 DOMAIN USING CHEMICAL SHIFT REFINEMENT, 20 STRUCTURES [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014597
AA Change: E288G
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: E288G
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
55 |
111 |
2.91e-18 |
SMART |
|
SH2
|
116 |
205 |
1.32e-32 |
SMART |
|
TyrKc
|
235 |
484 |
1.97e-127 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224965
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
A |
T |
14: 35,532,020 (GRCm39) |
L185* |
probably null |
Het |
| Aadacl4fm5 |
A |
G |
4: 144,504,755 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
T |
3: 30,653,840 (GRCm39) |
D53E |
probably benign |
Het |
| Ankrd34b |
T |
C |
13: 92,575,016 (GRCm39) |
S83P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,966,018 (GRCm39) |
V1029A |
probably benign |
Het |
| Cep192 |
T |
G |
18: 67,967,634 (GRCm39) |
V706G |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,125,097 (GRCm39) |
K908E |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,139,521 (GRCm39) |
I391N |
possibly damaging |
Het |
| Fmn1 |
A |
G |
2: 113,355,622 (GRCm39) |
R688G |
unknown |
Het |
| Gdap2 |
A |
G |
3: 100,078,336 (GRCm39) |
D100G |
probably benign |
Het |
| Gm43638 |
T |
C |
5: 87,610,769 (GRCm39) |
I522V |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,447,801 (GRCm39) |
|
probably null |
Het |
| Hoxd12 |
A |
G |
2: 74,505,905 (GRCm39) |
S159G |
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,345,749 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
G |
A |
6: 121,389,900 (GRCm39) |
Q524* |
probably null |
Het |
| Klra10 |
T |
A |
6: 130,258,845 (GRCm39) |
H14L |
possibly damaging |
Het |
| Lratd1 |
T |
C |
12: 14,200,646 (GRCm39) |
D27G |
probably damaging |
Het |
| Mettl15 |
T |
C |
2: 108,961,925 (GRCm39) |
E228G |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,591 (GRCm39) |
M216V |
probably benign |
Het |
| Or9s18 |
G |
A |
13: 65,300,210 (GRCm39) |
M57I |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,873,197 (GRCm39) |
N156D |
probably benign |
Het |
| Pkhd1l1 |
G |
T |
15: 44,379,605 (GRCm39) |
|
probably null |
Het |
| Pm20d1 |
T |
A |
1: 131,732,697 (GRCm39) |
N345K |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,643,440 (GRCm39) |
L980S |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,609,947 (GRCm39) |
H56Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,779,571 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,688,079 (GRCm39) |
D249E |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,539 (GRCm39) |
T107S |
possibly damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,887 (GRCm39) |
L172P |
probably damaging |
Het |
| Vrtn |
A |
G |
12: 84,696,923 (GRCm39) |
R558G |
probably benign |
Het |
| Zfp977 |
A |
T |
7: 42,232,439 (GRCm39) |
D7E |
probably damaging |
Het |
|
| Other mutations in Blk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Blk
|
APN |
14 |
63,618,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Blk
|
APN |
14 |
63,611,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blaenka
|
UTSW |
14 |
63,621,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Blk
|
UTSW |
14 |
63,611,008 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
BB019:Blk
|
UTSW |
14 |
63,611,008 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0254:Blk
|
UTSW |
14 |
63,618,253 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0318:Blk
|
UTSW |
14 |
63,611,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Blk
|
UTSW |
14 |
63,618,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1871:Blk
|
UTSW |
14 |
63,613,364 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3719:Blk
|
UTSW |
14 |
63,621,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Blk
|
UTSW |
14 |
63,611,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4879:Blk
|
UTSW |
14 |
63,613,414 (GRCm39) |
missense |
probably benign |
|
|
R4935:Blk
|
UTSW |
14 |
63,618,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5014:Blk
|
UTSW |
14 |
63,617,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5352:Blk
|
UTSW |
14 |
63,613,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Blk
|
UTSW |
14 |
63,618,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Blk
|
UTSW |
14 |
63,615,930 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5518:Blk
|
UTSW |
14 |
63,615,956 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6289:Blk
|
UTSW |
14 |
63,613,341 (GRCm39) |
splice site |
probably null |
|
|
R6743:Blk
|
UTSW |
14 |
63,622,375 (GRCm39) |
missense |
probably benign |
|
|
R7932:Blk
|
UTSW |
14 |
63,611,008 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8696:Blk
|
UTSW |
14 |
63,618,149 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9169:Blk
|
UTSW |
14 |
63,620,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Blk
|
UTSW |
14 |
63,610,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation