Incidental Mutation 'R8287:Blnk'
| ID |
638506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blnk
|
| Ensembl Gene |
ENSMUSG00000061132 |
| Gene Name |
B cell linker |
| Synonyms |
BASH, Bca, SLP-65, BCA, BLNK, Ly-57, Ly57 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40928927-40994535 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40929291 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 419
(Y419C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054769]
[ENSMUST00000117695]
|
| AlphaFold |
Q9QUN3 |
| PDB Structure |
Solution structure of the SH2 domain from mouse B-cell linker protein BLNK [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054769
AA Change: Y419C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: Y419C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SH2
|
139 |
180 |
6e-8 |
BLAST |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
SH2
|
345 |
436 |
3.07e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117695
AA Change: Y416C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: Y416C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SH2
|
139 |
180 |
6e-8 |
BLAST |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
SH2
|
342 |
433 |
3.07e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.2931 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,174,078 |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,894,247 |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,473,390 |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,022,680 |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,463,929 |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 112,859,143 |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,859,117 |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,767,455 |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,164,385 |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,812,603 |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,977,920 |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,130,461 |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,912,084 |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,828,267 |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 40,860,632 |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,734,242 |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,411,816 |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,388,133 |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,526,995 |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,289,962 |
V214A |
probably damaging |
Het |
| Olfr919 |
T |
C |
9: 38,698,337 |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,270,403 |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,422,236 |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,784,385 |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,331,629 |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,572,278 |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,775,371 |
K67N |
unknown |
Het |
|
| Other mutations in Blnk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Blnk
|
APN |
19 |
40934446 |
missense |
probably benign |
0.15 |
|
IGL01286:Blnk
|
APN |
19 |
40934506 |
missense |
probably benign |
0.00 |
|
IGL02090:Blnk
|
APN |
19 |
40934485 |
missense |
probably benign |
0.38 |
|
IGL02814:Blnk
|
APN |
19 |
40962429 |
missense |
probably damaging |
1.00 |
|
IGL02831:Blnk
|
APN |
19 |
40962429 |
missense |
probably damaging |
1.00 |
|
IGL03024:Blnk
|
APN |
19 |
40994002 |
splice site |
probably benign |
|
|
Augen
|
UTSW |
19 |
40929291 |
missense |
probably damaging |
1.00 |
|
Blick
|
UTSW |
19 |
40934459 |
missense |
probably damaging |
1.00 |
|
busy
|
UTSW |
19 |
40952391 |
nonsense |
probably null |
|
|
There
|
UTSW |
19 |
40952390 |
missense |
possibly damaging |
0.94 |
|
IGL02988:Blnk
|
UTSW |
19 |
40929216 |
missense |
probably damaging |
1.00 |
|
R0140:Blnk
|
UTSW |
19 |
40940224 |
missense |
probably damaging |
0.99 |
|
R0671:Blnk
|
UTSW |
19 |
40937667 |
nonsense |
probably null |
|
|
R1617:Blnk
|
UTSW |
19 |
40962363 |
missense |
probably benign |
|
|
R1638:Blnk
|
UTSW |
19 |
40937678 |
missense |
probably benign |
|
|
R1803:Blnk
|
UTSW |
19 |
40952377 |
missense |
probably damaging |
0.96 |
|
R1970:Blnk
|
UTSW |
19 |
40940165 |
splice site |
probably benign |
|
|
R2880:Blnk
|
UTSW |
19 |
40962455 |
missense |
probably damaging |
1.00 |
|
R2980:Blnk
|
UTSW |
19 |
40962350 |
missense |
probably damaging |
1.00 |
|
R5421:Blnk
|
UTSW |
19 |
40968523 |
missense |
probably damaging |
1.00 |
|
R5987:Blnk
|
UTSW |
19 |
40929289 |
missense |
possibly damaging |
0.95 |
|
R6321:Blnk
|
UTSW |
19 |
40934459 |
missense |
probably damaging |
1.00 |
|
R6703:Blnk
|
UTSW |
19 |
40962506 |
splice site |
probably null |
|
|
R6970:Blnk
|
UTSW |
19 |
40962377 |
missense |
probably damaging |
0.99 |
|
R7101:Blnk
|
UTSW |
19 |
40972638 |
missense |
probably benign |
0.01 |
|
R7432:Blnk
|
UTSW |
19 |
40959857 |
nonsense |
probably null |
|
|
R7560:Blnk
|
UTSW |
19 |
40952390 |
missense |
possibly damaging |
0.94 |
|
R7797:Blnk
|
UTSW |
19 |
40959788 |
missense |
possibly damaging |
0.51 |
|
R8473:Blnk
|
UTSW |
19 |
40952410 |
missense |
possibly damaging |
0.81 |
|
R8798:Blnk
|
UTSW |
19 |
40962351 |
missense |
probably damaging |
1.00 |
|
R9094:Blnk
|
UTSW |
19 |
40994039 |
missense |
probably benign |
0.39 |
|
R9139:Blnk
|
UTSW |
19 |
40934518 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGGAGTCATAGCCAGAATATG -3'
(R):5'- AAGCTGTCCATGTGGCTTTG -3'
Sequencing Primer
(F):5'- AGTCATAGCCAGAATATGATGTTTTC -3'
(R):5'- TATAGGAAAGTGCAGAGCCTACCC -3'
|
| Posted On |
2020-07-28 |
