Incidental Mutation 'IGL01286:Blnk'
| ID |
72726 |
| 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 # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40917371-40982664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40922950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 389
(K389R)
|
| 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: K392R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: K392R
| 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: K389R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: K389R
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,578 (GRCm39) |
C214S |
possibly damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,080,728 (GRCm39) |
K241N |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,140,660 (GRCm39) |
D155G |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tert |
G |
A |
13: 73,776,416 (GRCm39) |
R389H |
possibly damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,716,822 (GRCm39) |
T75I |
probably benign |
Het |
| Txnl4a |
C |
T |
18: 80,261,956 (GRCm39) |
T64I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
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 |
|
IGL02090:Blnk
|
APN |
19 |
40,922,929 (GRCm39) |
missense |
probably benign |
0.38 |
|
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 |
2013-10-07 |
Incidental Mutation