Incidental Mutation 'R3719:Blk'
ID |
258829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Blk
|
Ensembl Gene |
ENSMUSG00000014453 |
Gene Name |
B lymphoid kinase |
Synonyms |
|
MMRRC Submission |
042001-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3719 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
63610285-63654486 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63621451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 93
(S93P)
|
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: S93P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014597 Gene: ENSMUSG00000014453 AA Change: S93P
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 |
|
Meta Mutation Damage Score |
0.8538 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
97% (35/36) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
A |
15: 94,259,719 (GRCm39) |
R327C |
probably damaging |
Het |
Atxn2l |
G |
A |
7: 126,097,302 (GRCm39) |
R335W |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,711,343 (GRCm39) |
D75G |
probably damaging |
Het |
Chpf2 |
C |
T |
5: 24,795,310 (GRCm39) |
Q278* |
probably null |
Het |
Cypt14-ps |
C |
T |
X: 38,952,128 (GRCm39) |
G52E |
probably damaging |
Het |
Defb18 |
A |
G |
1: 18,306,813 (GRCm39) |
S48P |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,006,882 (GRCm39) |
|
probably benign |
Het |
Ero1b |
T |
G |
13: 12,598,493 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
C |
5: 115,717,876 (GRCm39) |
S254P |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Kdm3b |
C |
T |
18: 34,941,724 (GRCm39) |
A405V |
probably damaging |
Het |
Mcm7 |
G |
A |
5: 138,164,976 (GRCm39) |
Q550* |
probably null |
Het |
Or9m1 |
G |
A |
2: 87,733,447 (GRCm39) |
T191I |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 58,286,374 (GRCm39) |
E1150G |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,279,288 (GRCm39) |
Y756C |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,571,175 (GRCm39) |
T187A |
probably benign |
Het |
Rbms3 |
C |
T |
9: 116,411,930 (GRCm39) |
V421I |
probably benign |
Het |
Selenbp2 |
T |
C |
3: 94,606,924 (GRCm39) |
F190S |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,382,144 (GRCm39) |
T801M |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Spen |
G |
T |
4: 141,244,494 (GRCm39) |
H180Q |
unknown |
Het |
Tenm4 |
A |
G |
7: 96,512,770 (GRCm39) |
K1339R |
possibly damaging |
Het |
Trim30a |
C |
A |
7: 104,060,370 (GRCm39) |
D469Y |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,964,354 (GRCm39) |
R1283H |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,749,757 (GRCm39) |
R29* |
probably null |
Het |
Ttc17 |
A |
G |
2: 94,194,672 (GRCm39) |
V567A |
probably benign |
Het |
Vmn2r101 |
A |
G |
17: 19,809,811 (GRCm39) |
Y199C |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,582 (GRCm39) |
Y459N |
probably damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,245 (GRCm39) |
I215V |
probably benign |
Het |
Wdr48 |
C |
T |
9: 119,736,197 (GRCm39) |
S162F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTTGGCATCATTCAGAG -3'
(R):5'- ACCTCCTTATCACCAGGCTG -3'
Sequencing Primer
(F):5'- GAGAGCCAGAACTTTCCATTCCTG -3'
(R):5'- ACCAGGCTGTCTGTCTGTC -3'
|
Posted On |
2015-01-23 |