Incidental Mutation 'IGL02090:Blnk'
| ID |
279421 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Blnk
|
| Ensembl Gene |
ENSMUSG00000061132 |
| Gene Name |
B cell linker |
| Synonyms |
Ly-57, Bca, SLP-65, Ly57, BCA, BASH, BLNK |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL02090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40917371-40982664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40922929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 396
(V396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054769]
[ENSMUST00000117695]
|
| AlphaFold |
Q9QUN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054769
AA Change: V399A
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: V399A
| 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 benign
Transcript: ENSMUST00000117695
AA Change: V396A
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: V396A
| 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 |
|
| 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 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace2 |
A |
G |
X: 162,968,701 (GRCm39) |
T482A |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,546 (GRCm39) |
I173T |
possibly damaging |
Het |
| Apoa1 |
T |
C |
9: 46,140,548 (GRCm39) |
S60P |
possibly damaging |
Het |
| Borcs8 |
A |
G |
8: 70,619,030 (GRCm39) |
D204G |
probably damaging |
Het |
| Calhm5 |
G |
A |
10: 33,972,261 (GRCm39) |
P58L |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,373,336 (GRCm39) |
|
probably benign |
Het |
| Cdkal1 |
T |
G |
13: 29,701,493 (GRCm39) |
I319L |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,922 (GRCm39) |
T2560S |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,464,691 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,689,932 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,866,876 (GRCm39) |
N2265S |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,240,187 (GRCm39) |
|
probably benign |
Het |
| Epgn |
G |
A |
5: 91,181,816 (GRCm39) |
G133E |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,766 (GRCm39) |
V13F |
probably benign |
Het |
| Gabarapl2 |
A |
G |
8: 112,667,831 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,523,826 (GRCm39) |
|
probably null |
Het |
| Gm6040 |
G |
A |
8: 21,407,169 (GRCm39) |
|
probably benign |
Het |
| Gm8229 |
T |
C |
14: 44,604,054 (GRCm39) |
L81P |
unknown |
Het |
| Gstz1 |
A |
G |
12: 87,210,528 (GRCm39) |
E137G |
probably benign |
Het |
| Htra1 |
T |
C |
7: 130,538,108 (GRCm39) |
V36A |
probably benign |
Het |
| Ifnlr1 |
T |
C |
4: 135,432,578 (GRCm39) |
V338A |
probably benign |
Het |
| Igsf8 |
A |
G |
1: 172,140,156 (GRCm39) |
|
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,212 (GRCm39) |
F132L |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,829,108 (GRCm39) |
S561L |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,457,936 (GRCm39) |
T89A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,111,467 (GRCm39) |
M1281K |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,956,021 (GRCm39) |
N18S |
probably benign |
Het |
| Or4k49 |
G |
T |
2: 111,495,333 (GRCm39) |
C254F |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,181 (GRCm39) |
I202L |
probably benign |
Het |
| Or6c66b |
T |
C |
10: 129,377,176 (GRCm39) |
Y257H |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,949,571 (GRCm39) |
G2403D |
probably damaging |
Het |
| Pdgfb |
C |
A |
15: 79,898,184 (GRCm39) |
A6S |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,021,121 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
A |
G |
2: 135,789,041 (GRCm39) |
M274V |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,074,001 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,041 (GRCm39) |
D458G |
possibly damaging |
Het |
| Sertad3 |
C |
T |
7: 27,175,950 (GRCm39) |
S128F |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,380,123 (GRCm39) |
L903Q |
probably damaging |
Het |
| Slc15a5 |
C |
T |
6: 138,020,598 (GRCm39) |
R245H |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,910,218 (GRCm39) |
T40S |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,248 (GRCm39) |
N539S |
possibly damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,489 (GRCm39) |
D825G |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,709,334 (GRCm39) |
V674G |
possibly damaging |
Het |
| Urb2 |
G |
A |
8: 124,754,976 (GRCm39) |
V228I |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,268,623 (GRCm39) |
A2061V |
possibly damaging |
Het |
| Wdr72 |
C |
A |
9: 74,062,212 (GRCm39) |
H453N |
possibly damaging |
Het |
| Xkr9 |
T |
C |
1: 13,771,600 (GRCm39) |
M372T |
probably damaging |
Het |
| Zc3h12d |
T |
G |
10: 7,743,096 (GRCm39) |
S289A |
probably benign |
Het |
| Zfp607b |
A |
T |
7: 27,398,140 (GRCm39) |
M75L |
possibly damaging |
Het |
|
| Other mutations in Blnk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Blnk
|
APN |
19 |
40,922,890 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01286:Blnk
|
APN |
19 |
40,922,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02814:Blnk
|
APN |
19 |
40,950,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Blnk
|
APN |
19 |
40,950,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Blnk
|
APN |
19 |
40,982,445 (GRCm39) |
splice site |
probably benign |
|
|
Augen
|
UTSW |
19 |
40,917,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Blick
|
UTSW |
19 |
40,922,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
busy
|
UTSW |
19 |
40,940,835 (GRCm39) |
nonsense |
probably null |
|
|
Buzzy
|
UTSW |
19 |
40,982,482 (GRCm39) |
missense |
probably benign |
0.39 |
|
There
|
UTSW |
19 |
40,940,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02988:Blnk
|
UTSW |
19 |
40,917,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Blnk
|
UTSW |
19 |
40,928,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0671:Blnk
|
UTSW |
19 |
40,926,111 (GRCm39) |
nonsense |
probably null |
|
|
R1617:Blnk
|
UTSW |
19 |
40,950,807 (GRCm39) |
missense |
probably benign |
|
|
R1638:Blnk
|
UTSW |
19 |
40,926,122 (GRCm39) |
missense |
probably benign |
|
|
R1803:Blnk
|
UTSW |
19 |
40,940,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1970:Blnk
|
UTSW |
19 |
40,928,609 (GRCm39) |
splice site |
probably benign |
|
|
R2880:Blnk
|
UTSW |
19 |
40,950,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2980:Blnk
|
UTSW |
19 |
40,950,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Blnk
|
UTSW |
19 |
40,956,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Blnk
|
UTSW |
19 |
40,917,733 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6321:Blnk
|
UTSW |
19 |
40,922,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Blnk
|
UTSW |
19 |
40,950,950 (GRCm39) |
splice site |
probably null |
|
|
R6970:Blnk
|
UTSW |
19 |
40,950,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Blnk
|
UTSW |
19 |
40,961,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7432:Blnk
|
UTSW |
19 |
40,948,301 (GRCm39) |
nonsense |
probably null |
|
|
R7560:Blnk
|
UTSW |
19 |
40,940,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7797:Blnk
|
UTSW |
19 |
40,948,232 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8287:Blnk
|
UTSW |
19 |
40,917,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8473:Blnk
|
UTSW |
19 |
40,940,854 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8798:Blnk
|
UTSW |
19 |
40,950,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Blnk
|
UTSW |
19 |
40,982,482 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9139:Blnk
|
UTSW |
19 |
40,922,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation