Incidental Mutation 'IGL00499:Blk'
| ID |
4174 |
| 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 # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63610285-63654486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63618169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 246
(F246L)
|
| 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 damaging
Transcript: ENSMUST00000014597
AA Change: F246L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: F246L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
| Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Blk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02146:Blk
|
APN |
14 |
63,611,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Blk
|
APN |
14 |
63,617,143 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
2012-04-20 |
Incidental Mutation