Incidental Mutation 'R6012:Bank1'
| ID |
479798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
044188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6012 (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 C
at 135919598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 266
(D266G)
|
| 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: D399G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: D399G
| 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 benign
Transcript: ENSMUST00000196159
AA Change: D266G
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: D266G
| 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: ENSMUST00000198034
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198206
AA Change: D266G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: D266G
| 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 |
0.0669 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
100% (55/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,400,691 (GRCm39) |
Y97N |
probably damaging |
Het |
| Adrm1b |
C |
A |
3: 92,336,791 (GRCm39) |
|
probably null |
Het |
| Akr1b10 |
A |
T |
6: 34,364,715 (GRCm39) |
I59F |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,224,374 (GRCm39) |
D1076E |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,211,467 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,655 (GRCm39) |
Y273C |
probably damaging |
Het |
| Chfr |
G |
T |
5: 110,292,517 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,909,476 (GRCm39) |
Q1363L |
probably benign |
Het |
| Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
| Ect2 |
T |
C |
3: 27,152,474 (GRCm39) |
|
probably benign |
Het |
| Efcab10 |
A |
C |
12: 33,448,592 (GRCm39) |
D107A |
probably damaging |
Het |
| Fcgr4 |
G |
A |
1: 170,853,233 (GRCm39) |
G146D |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,966,322 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,370,409 (GRCm39) |
D152G |
probably damaging |
Het |
| Gli2 |
A |
C |
1: 118,765,445 (GRCm39) |
L902R |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,429,172 (GRCm39) |
G125D |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,394 (GRCm39) |
Y168H |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,388,764 (GRCm39) |
K1962R |
possibly damaging |
Het |
| Hebp1 |
T |
A |
6: 135,145,055 (GRCm39) |
E14V |
probably damaging |
Het |
| Hhla1 |
A |
C |
15: 65,820,339 (GRCm39) |
I137S |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,337,934 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,113,098 (GRCm39) |
Y19C |
probably damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,619,333 (GRCm39) |
M204K |
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,031 (GRCm39) |
I551F |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,490 (GRCm39) |
D141E |
probably damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,248,296 (GRCm39) |
D757G |
probably benign |
Het |
| Mettl16 |
A |
T |
11: 74,678,474 (GRCm39) |
Y141F |
probably damaging |
Het |
| Mfng |
G |
A |
15: 78,640,840 (GRCm39) |
R302C |
probably damaging |
Het |
| Mogs |
T |
A |
6: 83,094,363 (GRCm39) |
S393R |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,044 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
C |
8: 108,093,765 (GRCm39) |
S150P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,316,978 (GRCm39) |
V11A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,237 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,416,805 (GRCm39) |
S107P |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,182,120 (GRCm39) |
D463N |
probably damaging |
Het |
| Picalm |
A |
C |
7: 89,844,908 (GRCm39) |
I567L |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,808,428 (GRCm39) |
D5V |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,428,305 (GRCm39) |
T222M |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,067 (GRCm39) |
S3775P |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,446,243 (GRCm39) |
D982V |
probably damaging |
Het |
| Tas2r113 |
C |
T |
6: 132,870,644 (GRCm39) |
T224I |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,055,112 (GRCm39) |
D310G |
probably damaging |
Het |
| Tcf12 |
G |
T |
9: 71,766,229 (GRCm39) |
T468K |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,171,640 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,172,542 (GRCm39) |
Y1907H |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,388 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,087,083 (GRCm39) |
Y191C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,272 (GRCm39) |
I355N |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,891 (GRCm39) |
D184E |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,117,439 (GRCm39) |
D575E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,791 (GRCm39) |
T796I |
unknown |
Het |
| Zfp639 |
A |
G |
3: 32,573,271 (GRCm39) |
D61G |
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 |
|
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'- TTCTCCAGGAATCCCAGGTATG -3'
(R):5'- AACACTTCTTCACTGTGCAGC -3'
Sequencing Primer
(F):5'- AACTGGTTTTTCTCCTCAGGG -3'
(R):5'- CACTGTGCAGCAAAATTTGGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation