Incidental Mutation 'IGL02831:Blnk'
| ID |
361432 |
| 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 # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40917371-40982664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40950873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 93
(D93N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054769]
[ENSMUST00000117695]
|
| AlphaFold |
Q9QUN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054769
AA Change: D93N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: D93N
| 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: D93N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: D93N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134568
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
| Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation