Incidental Mutation 'IGL00780:Blnk'
ID |
9274 |
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 # |
IGL00780
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
40917371-40982664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40922890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 412
(K412M)
|
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 benign
Transcript: ENSMUST00000054769
AA Change: K412M
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000057844 Gene: ENSMUSG00000061132 AA Change: K412M
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: K409M
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000112473 Gene: ENSMUSG00000061132 AA Change: K409M
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
Acvrl1 |
T |
A |
15: 101,035,248 (GRCm39) |
F258Y |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
Hsp90ab1 |
T |
C |
17: 45,880,490 (GRCm39) |
N407S |
probably damaging |
Het |
Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
Pgghg |
T |
C |
7: 140,525,264 (GRCm39) |
|
probably null |
Het |
Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
Ppig |
A |
T |
2: 69,563,268 (GRCm39) |
E81D |
possibly damaging |
Het |
Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,482,310 (GRCm39) |
I142V |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
Tdp1 |
T |
C |
12: 99,859,907 (GRCm39) |
V198A |
possibly damaging |
Het |
Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
Other mutations in Blnk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01286:Blnk
|
APN |
19 |
40,922,950 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2012-12-06 |