Incidental Mutation 'R0723:Bank1'
| ID |
218677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
038905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0723 (G1)
|
| Quality Score |
45 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 135760164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041577
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
| 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 |
noncoding transcript
Transcript: ENSMUST00000196131
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196159
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
| 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 |
noncoding transcript
Transcript: ENSMUST00000197542
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198206
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
| 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 |
probably null
Transcript: ENSMUST00000198206
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199902
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acbd5 |
T |
G |
2: 22,959,608 (GRCm39) |
V54G |
probably damaging |
Het |
| Acin1 |
A |
T |
14: 54,902,908 (GRCm39) |
S255T |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,147,248 (GRCm39) |
L56P |
probably damaging |
Het |
| Akap6 |
G |
T |
12: 53,188,685 (GRCm39) |
C2033F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,237,506 (GRCm39) |
I777V |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,075,987 (GRCm39) |
V1349A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,733 (GRCm39) |
G444E |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,987,281 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,287,697 (GRCm39) |
V1161A |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,169,703 (GRCm39) |
D268E |
probably benign |
Het |
| Ciao3 |
G |
A |
17: 26,000,795 (GRCm39) |
V406M |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,385,676 (GRCm39) |
S175T |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,320 (GRCm39) |
Y67* |
probably null |
Het |
| Copg2 |
T |
C |
6: 30,792,917 (GRCm39) |
I473V |
possibly damaging |
Het |
| Cstdc1 |
T |
C |
2: 148,625,282 (GRCm39) |
I72T |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,508,973 (GRCm39) |
V43I |
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Efemp2 |
T |
C |
19: 5,530,078 (GRCm39) |
S140P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,479,786 (GRCm39) |
T2944K |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,047,784 (GRCm39) |
D43E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,419,825 (GRCm39) |
A996T |
probably damaging |
Het |
| Fyb2 |
G |
A |
4: 104,873,063 (GRCm39) |
V784I |
probably benign |
Het |
| Gm6507 |
T |
A |
6: 89,162,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
C |
7: 83,405,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
T |
C |
6: 136,704,799 (GRCm39) |
|
probably null |
Het |
| Hdac10 |
A |
T |
15: 89,010,621 (GRCm39) |
L259Q |
probably damaging |
Het |
| Hoxd9 |
A |
T |
2: 74,529,172 (GRCm39) |
D258V |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,812,401 (GRCm39) |
T105A |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,783,595 (GRCm39) |
L271P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,524 (GRCm39) |
|
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,633,078 (GRCm39) |
M121K |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,876,566 (GRCm39) |
D129N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,361,999 (GRCm39) |
I648N |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,100,540 (GRCm39) |
R18H |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,247,473 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,369,803 (GRCm39) |
N854K |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,457,741 (GRCm39) |
I84T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,778,383 (GRCm39) |
S1380C |
probably benign |
Het |
| Myof |
A |
G |
19: 37,969,708 (GRCm39) |
V318A |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,897 (GRCm39) |
S28P |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,467,145 (GRCm39) |
Q570* |
probably null |
Het |
| Nhp2 |
C |
T |
11: 51,510,750 (GRCm39) |
Q36* |
probably null |
Het |
| Or1e17 |
T |
G |
11: 73,831,096 (GRCm39) |
V8G |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,965,457 (GRCm39) |
W129R |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,146,936 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 78,986,481 (GRCm39) |
E1018K |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,181,710 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,833,873 (GRCm39) |
V280I |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Spag5 |
C |
A |
11: 78,210,410 (GRCm39) |
|
probably benign |
Het |
| Spata31g1 |
T |
A |
4: 42,971,691 (GRCm39) |
N341K |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,644,617 (GRCm39) |
I961N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,173,045 (GRCm39) |
E1739G |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,502,337 (GRCm39) |
F50S |
possibly damaging |
Het |
| Tnfsf13b |
T |
G |
8: 10,057,166 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,616,679 (GRCm39) |
K16525E |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,259,629 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,711,582 (GRCm39) |
Y1437* |
probably null |
Het |
| Vwf |
C |
A |
6: 125,543,225 (GRCm39) |
D170E |
probably benign |
Het |
| Wdr95 |
C |
G |
5: 149,497,513 (GRCm39) |
I230M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,342,559 (GRCm39) |
S1600F |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,638 (GRCm39) |
K322E |
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 |
|
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 |
|
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'- TCCATGCAGATTAGCCCTGGAGAC -3'
(R):5'- TCCCAGAACTGTGAATGGCAGC -3'
Sequencing Primer
(F):5'- TAGCCCTGGAGACCAGGTATTC -3'
(R):5'- ACTGTGAATGGCAGCTATGC -3'
|
| Posted On |
2014-08-19 |
Incidental Mutation