Incidental Mutation 'R8321:Bank1'
| ID |
641944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
067723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135940395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 329
(E329V)
|
| 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: E329V
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: E329V
| 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: E196V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: E196V
| 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: E196V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: E196V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
| Cfap58 |
A |
G |
19: 47,946,586 (GRCm39) |
E373G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
| Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
| Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,736,317 (GRCm39) |
V739A |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
| Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
| Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,060,273 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
| Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
| Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
| Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
| Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
| Pask |
G |
A |
1: 93,248,377 (GRCm39) |
R975C |
possibly damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 74,024,939 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
| Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
| Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
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 |
|
|
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 |
|
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'- GCATGAGTGTGCATAGTGC -3'
(R):5'- CCCATCAGTCTAGTTAGTACTACC -3'
Sequencing Primer
(F):5'- CATAGTGCATGCGTGTGC -3'
(R):5'- CAAGCATCCTCTTGGCTA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation