Incidental Mutation 'R4422:Bank1'
| ID |
327129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
041695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135788972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 441
(Q441L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041577
AA Change: Q642L
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: Q642L
| Domain | Start | End | E-Value | Type |
|---|
|
DBB
|
197 |
327 |
1.24e-62 |
SMART |
|
Blast:ANK
|
341 |
371 |
7e-12 |
BLAST |
|
SCOP:d1awcb_
|
344 |
398 |
2e-4 |
SMART |
|
Blast:ANK
|
377 |
407 |
2e-6 |
BLAST |
|
coiled coil region
|
465 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
coiled coil region
|
560 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196159
AA Change: Q509L
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: Q509L
| Domain | Start | End | E-Value | Type |
|---|
|
DBB
|
64 |
194 |
1.24e-62 |
SMART |
|
Blast:ANK
|
208 |
238 |
6e-12 |
BLAST |
|
SCOP:d1awcb_
|
211 |
265 |
1e-4 |
SMART |
|
Blast:ANK
|
244 |
274 |
3e-6 |
BLAST |
|
coiled coil region
|
332 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
427 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198206
AA Change: Q441L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: Q441L
| Domain | Start | End | E-Value | Type |
|---|
|
DBB
|
64 |
194 |
5.9e-67 |
SMART |
|
Blast:ANK
|
208 |
238 |
5e-12 |
BLAST |
|
SCOP:d1awcb_
|
211 |
265 |
1e-4 |
SMART |
|
Blast:ANK
|
244 |
274 |
2e-6 |
BLAST |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
coiled coil region
|
359 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198354
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased germinal center formation and IgM production in response to T-dependent antigens, and show enhanced CD40-mediated B cell proliferative and survival responses. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,895,412 (GRCm39) |
S1168P |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,024,046 (GRCm39) |
M142V |
probably benign |
Het |
| Akna |
G |
T |
4: 63,305,330 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,511,373 (GRCm39) |
C111S |
probably null |
Het |
| Bak1 |
C |
A |
17: 27,240,298 (GRCm39) |
G130W |
probably damaging |
Het |
| C030034I22Rik |
T |
C |
17: 69,725,153 (GRCm39) |
|
noncoding transcript |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cct7 |
A |
G |
6: 85,444,127 (GRCm39) |
R355G |
probably damaging |
Het |
| Cd19 |
C |
T |
7: 126,012,578 (GRCm39) |
V272I |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,390,547 (GRCm39) |
L1095S |
probably damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,928,591 (GRCm39) |
Y148* |
probably null |
Het |
| Chrnb3 |
T |
C |
8: 27,886,761 (GRCm39) |
V445A |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,467,559 (GRCm39) |
M852L |
unknown |
Het |
| Dhx29 |
T |
C |
13: 113,083,781 (GRCm39) |
L612P |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,793,463 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,972,799 (GRCm39) |
T2045A |
possibly damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,538,377 (GRCm39) |
T245A |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,488,354 (GRCm39) |
E42G |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,622,445 (GRCm39) |
T141K |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Gcnt2 |
T |
G |
13: 41,014,001 (GRCm39) |
Y57* |
probably null |
Het |
| Gm5409 |
C |
T |
6: 41,396,519 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
A |
G |
5: 124,135,069 (GRCm39) |
K402E |
possibly damaging |
Het |
| Hlcs |
G |
A |
16: 93,939,819 (GRCm39) |
P506L |
possibly damaging |
Het |
| Itih4 |
T |
A |
14: 30,611,821 (GRCm39) |
F142I |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,360,754 (GRCm39) |
D518G |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,649,248 (GRCm39) |
C341Y |
probably damaging |
Het |
| Lsr |
G |
T |
7: 30,665,422 (GRCm39) |
N177K |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,359,839 (GRCm39) |
S1815F |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,503,008 (GRCm39) |
S95P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,878,887 (GRCm39) |
L218P |
probably damaging |
Het |
| Nlrp4f |
C |
T |
13: 65,332,776 (GRCm39) |
|
probably null |
Het |
| Nrde2 |
G |
A |
12: 100,112,286 (GRCm39) |
Q137* |
probably null |
Het |
| Or12e10 |
C |
A |
2: 87,640,989 (GRCm39) |
T275K |
probably damaging |
Het |
| Or51l14 |
G |
T |
7: 103,101,450 (GRCm39) |
R302L |
probably damaging |
Het |
| Or6z7 |
G |
T |
7: 6,484,037 (GRCm39) |
Y39* |
probably null |
Het |
| Phf24 |
G |
A |
4: 42,934,817 (GRCm39) |
C151Y |
probably damaging |
Het |
| Pik3r1 |
T |
G |
13: 101,830,892 (GRCm39) |
N3T |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,542,484 (GRCm39) |
K821E |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Prelid2 |
T |
C |
18: 42,045,461 (GRCm39) |
T150A |
probably benign |
Het |
| Psg21 |
A |
G |
7: 18,381,257 (GRCm39) |
S429P |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,140,360 (GRCm39) |
Y114H |
possibly damaging |
Het |
| Rsbn1l |
G |
T |
5: 21,101,544 (GRCm39) |
H665Q |
probably damaging |
Het |
| Rspo2 |
T |
C |
15: 43,033,150 (GRCm39) |
N24S |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,731,952 (GRCm39) |
C2329* |
probably null |
Het |
| Skint2 |
T |
A |
4: 112,441,785 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,123,149 (GRCm39) |
Y37H |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,938,749 (GRCm39) |
R111W |
probably damaging |
Het |
| Tnks2 |
G |
A |
19: 36,823,053 (GRCm39) |
V107I |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,019,882 (GRCm39) |
L404* |
probably null |
Het |
| Vmn2r86 |
T |
C |
10: 130,288,845 (GRCm39) |
I219V |
possibly damaging |
Het |
| Vsig10 |
T |
C |
5: 117,462,986 (GRCm39) |
S71P |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
| Zfp871 |
T |
A |
17: 32,993,808 (GRCm39) |
S437C |
probably benign |
Het |
| Zfp871 |
C |
A |
17: 32,993,807 (GRCm39) |
S456I |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,708 (GRCm39) |
T480A |
probably benign |
Het |
|
| Other mutations in Bank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Bank1
|
APN |
3 |
135,953,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03088:Bank1
|
APN |
3 |
135,799,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03190:Bank1
|
APN |
3 |
135,806,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:Bank1
|
UTSW |
3 |
135,760,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Bank1
|
UTSW |
3 |
135,806,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Bank1
|
UTSW |
3 |
135,772,279 (GRCm39) |
splice site |
probably benign |
|
|
R0423:Bank1
|
UTSW |
3 |
135,989,778 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0518:Bank1
|
UTSW |
3 |
135,919,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Bank1
|
UTSW |
3 |
135,919,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0587:Bank1
|
UTSW |
3 |
135,919,798 (GRCm39) |
splice site |
probably benign |
|
|
R0628:Bank1
|
UTSW |
3 |
135,772,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Bank1
|
UTSW |
3 |
135,760,164 (GRCm39) |
splice site |
probably null |
|
|
R0811:Bank1
|
UTSW |
3 |
135,799,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Bank1
|
UTSW |
3 |
135,799,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Bank1
|
UTSW |
3 |
135,989,625 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1446:Bank1
|
UTSW |
3 |
135,769,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Bank1
|
UTSW |
3 |
135,919,602 (GRCm39) |
nonsense |
probably null |
|
|
R1636:Bank1
|
UTSW |
3 |
135,788,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Bank1
|
UTSW |
3 |
135,799,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Bank1
|
UTSW |
3 |
135,960,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1751:Bank1
|
UTSW |
3 |
135,940,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2023:Bank1
|
UTSW |
3 |
136,031,679 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2851:Bank1
|
UTSW |
3 |
135,948,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2852:Bank1
|
UTSW |
3 |
135,948,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3411:Bank1
|
UTSW |
3 |
135,953,534 (GRCm39) |
splice site |
probably benign |
|
|
R4499:Bank1
|
UTSW |
3 |
135,990,004 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4693:Bank1
|
UTSW |
3 |
135,953,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4744:Bank1
|
UTSW |
3 |
135,953,450 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4791:Bank1
|
UTSW |
3 |
135,960,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Bank1
|
UTSW |
3 |
135,990,004 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4967:Bank1
|
UTSW |
3 |
135,772,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Bank1
|
UTSW |
3 |
135,960,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5119:Bank1
|
UTSW |
3 |
135,940,443 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5284:Bank1
|
UTSW |
3 |
135,769,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5547:Bank1
|
UTSW |
3 |
135,772,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5610:Bank1
|
UTSW |
3 |
135,772,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Bank1
|
UTSW |
3 |
135,919,598 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6087:Bank1
|
UTSW |
3 |
135,772,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Bank1
|
UTSW |
3 |
135,799,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Bank1
|
UTSW |
3 |
135,948,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6861:Bank1
|
UTSW |
3 |
135,960,764 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7013:Bank1
|
UTSW |
3 |
135,806,270 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7436:Bank1
|
UTSW |
3 |
135,761,561 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7918:Bank1
|
UTSW |
3 |
135,799,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8262:Bank1
|
UTSW |
3 |
135,948,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8321:Bank1
|
UTSW |
3 |
135,940,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8822:Bank1
|
UTSW |
3 |
135,809,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8937:Bank1
|
UTSW |
3 |
135,989,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Bank1
|
UTSW |
3 |
135,772,264 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9010:Bank1
|
UTSW |
3 |
135,761,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9069:Bank1
|
UTSW |
3 |
135,989,772 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9327:Bank1
|
UTSW |
3 |
135,799,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
V1662:Bank1
|
UTSW |
3 |
135,760,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGAGGGGCCTTTCCTG -3'
(R):5'- TTACCGATAAACTGCACACATGAG -3'
Sequencing Primer
(F):5'- GGCATAGTTGTTTTGGGATAAGATAC -3'
(R):5'- ATAAACTGCACACATGAGAAAATTAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation