Incidental Mutation 'R6321:Blnk'
| ID |
510374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blnk
|
| Ensembl Gene |
ENSMUSG00000061132 |
| Gene Name |
B cell linker |
| Synonyms |
Ly-57, Bca, SLP-65, Ly57, BCA, BASH, BLNK |
| MMRRC Submission |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R6321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40917371-40982664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40922903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 405
(Y405N)
|
| 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: Y408N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: Y408N
| 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: Y405N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: Y405N
| 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 |
0.9683 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
| Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGCTGAAGAGAAGTTACC -3'
(R):5'- GCACATTACATGCTAGTACTGGC -3'
Sequencing Primer
(F):5'- GCAGTGATACTTTCCCGAAATC -3'
(R):5'- ACATGCTAGTACTGGCTTCACTCAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation