Incidental Mutation 'R6743:Blk'
| ID |
532751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blk
|
| Ensembl Gene |
ENSMUSG00000014453 |
| Gene Name |
B lymphoid kinase |
| Synonyms |
|
| MMRRC Submission |
044860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
63610285-63654486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63622375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 55
(R55H)
|
| 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: R55H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: R55H
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,327,321 (GRCm39) |
R339C |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
| Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,810,005 (GRCm39) |
S168G |
probably benign |
Het |
| Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
| Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,711,173 (GRCm39) |
Y152C |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
| Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
| Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
| Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
| Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
| Tsr1 |
T |
C |
11: 74,799,177 (GRCm39) |
V786A |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,079 (GRCm39) |
I58T |
possibly 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 |
|
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 |
|
|
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'- GAAGGACAATGACCCATGCC -3'
(R):5'- GCCTATTCCTAGAGTGGCTGTG -3'
Sequencing Primer
(F):5'- AAGGCCATTTAGGGGTGCC -3'
(R):5'- GGGTCTGGTGTCACTTCCTGAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation