Incidental Mutation 'R8822:Bank1'
| ID |
673098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
068655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8822 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135809640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 418
(D418V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041577
AA Change: D418V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: D418V
| 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 |
probably damaging
Transcript: ENSMUST00000196159
AA Change: D285V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: D285V
| 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 benign
Transcript: ENSMUST00000198206
AA Change: D285V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: D285V
| 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 |
|
| Meta Mutation Damage Score |
0.2310 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb1 |
T |
C |
19: 56,711,849 (GRCm39) |
V349A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,629,772 (GRCm39) |
V99A |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,692 (GRCm39) |
V331A |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,808,820 (GRCm39) |
N178I |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,843,706 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,803,378 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,875,003 (GRCm39) |
A494V |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,201,262 (GRCm39) |
I13T |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,514,471 (GRCm39) |
V493A |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,842 (GRCm39) |
M254L |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,648,184 (GRCm39) |
I1250N |
probably damaging |
Het |
| Gm6685 |
T |
G |
11: 28,289,768 (GRCm39) |
Q16P |
probably benign |
Het |
| Gpr26 |
A |
G |
7: 131,568,997 (GRCm39) |
Y114C |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,389 (GRCm39) |
V433D |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,391 (GRCm39) |
W930R |
probably benign |
Het |
| Igdcc4 |
C |
T |
9: 65,031,298 (GRCm39) |
T412I |
possibly damaging |
Het |
| Klhl35 |
T |
C |
7: 99,122,055 (GRCm39) |
V485A |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,121,610 (GRCm39) |
D225G |
probably damaging |
Het |
| Myo15a |
C |
T |
11: 60,367,740 (GRCm39) |
R167C |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,188 (GRCm39) |
D29V |
probably damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,812 (GRCm39) |
M118I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,926 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,785 (GRCm39) |
S75P |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,700 (GRCm39) |
Y6C |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,551,328 (GRCm39) |
E204G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,806,312 (GRCm39) |
I2054K |
|
Het |
| Pkp1 |
T |
A |
1: 135,807,661 (GRCm39) |
M536L |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,658 (GRCm39) |
E68G |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,127,431 (GRCm39) |
D1892G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,092 (GRCm39) |
K92E |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,699,763 (GRCm39) |
L76P |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,002,588 (GRCm39) |
N1559K |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,833,346 (GRCm39) |
N750I |
possibly damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,691,613 (GRCm39) |
S221P |
probably damaging |
Het |
| S100a4 |
T |
C |
3: 90,512,358 (GRCm39) |
S14P |
probably benign |
Het |
| Samd11 |
A |
T |
4: 156,336,764 (GRCm39) |
L25Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,761,615 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,370,979 (GRCm39) |
S534P |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,507,702 (GRCm39) |
V781F |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,332 (GRCm39) |
L680F |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,149 (GRCm39) |
Q265P |
probably damaging |
Het |
| Slc27a1 |
T |
A |
8: 72,033,308 (GRCm39) |
D283E |
probably damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,906,952 (GRCm39) |
T262M |
probably benign |
Het |
| Slc52a3 |
T |
G |
2: 151,846,513 (GRCm39) |
V158G |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,484,125 (GRCm39) |
V64A |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,900 (GRCm39) |
W887R |
probably damaging |
Het |
| Tcap |
G |
A |
11: 98,275,264 (GRCm39) |
V133M |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,578,444 (GRCm39) |
L217P |
probably damaging |
Het |
| Tnfrsf12a |
T |
C |
17: 23,895,188 (GRCm39) |
S87G |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,330 (GRCm39) |
R77C |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,269,410 (GRCm39) |
V2107M |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,544,920 (GRCm39) |
S118P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zfp263 |
G |
T |
16: 3,562,004 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,723,831 (GRCm39) |
T1945A |
probably benign |
Het |
| Zfp644 |
G |
T |
5: 106,783,087 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,466,315 (GRCm39) |
S290T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,869 (GRCm39) |
D699E |
probably damaging |
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 |
|
|
R4422:Bank1
|
UTSW |
3 |
135,788,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CGTGAGGCAAGAAATTATCTTTACC -3'
(R):5'- TGGAAATAAGTGAGCTTCCTTTCTTCC -3'
Sequencing Primer
(F):5'- GAGTTTAATACACCACACTCA -3'
(R):5'- CACCCAAACTCATGATTTTCTTCAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation