Incidental Mutation 'R7436:Bank1'
| ID |
580537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
045512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7436 (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 135761561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 748
(N748D)
|
| 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: N748D
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: N748D
| 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: N615D
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: N615D
| 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 |
possibly damaging
Transcript: ENSMUST00000198206
AA Change: N547D
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: N547D
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
G |
14: 41,805,178 (GRCm39) |
|
probably null |
Het |
| 2310034C09Rik |
A |
G |
16: 88,556,242 (GRCm39) |
Y152C |
probably benign |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,736,354 (GRCm39) |
S103P |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,981,435 (GRCm39) |
|
probably null |
Het |
| Apoa1 |
T |
A |
9: 46,141,100 (GRCm39) |
|
probably null |
Het |
| Asb16 |
A |
G |
11: 102,163,481 (GRCm39) |
D157G |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,102,127 (GRCm39) |
G46W |
probably damaging |
Het |
| Ccdc202 |
A |
T |
14: 96,120,027 (GRCm39) |
K261N |
probably benign |
Het |
| Ccdc73 |
T |
A |
2: 104,782,214 (GRCm39) |
V190E |
probably damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
G |
19: 10,559,696 (GRCm39) |
Y7C |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,668 (GRCm39) |
D427V |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,131 (GRCm39) |
T295A |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,447 (GRCm39) |
T510A |
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,300,865 (GRCm39) |
E26* |
probably null |
Het |
| Dusp10 |
T |
C |
1: 183,801,418 (GRCm39) |
I395T |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,772,352 (GRCm39) |
H439L |
probably damaging |
Het |
| Heatr5b |
T |
A |
17: 79,075,962 (GRCm39) |
D1452V |
probably benign |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,112 (GRCm39) |
F278L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,975 (GRCm39) |
M702K |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,310,546 (GRCm39) |
F4081L |
probably damaging |
Het |
| Ido1 |
T |
G |
8: 25,076,932 (GRCm39) |
T209P |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,691,303 (GRCm39) |
Y689C |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,350,436 (GRCm39) |
R3809Q |
probably benign |
Het |
| Manea |
T |
C |
4: 26,328,228 (GRCm39) |
Y271C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,971,036 (GRCm39) |
T1014A |
probably benign |
Het |
| Nek5 |
A |
G |
8: 22,598,056 (GRCm39) |
F200L |
probably damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,984 (GRCm39) |
I226V |
probably benign |
Het |
| Nipsnap3a |
A |
T |
4: 52,994,159 (GRCm39) |
N80I |
probably damaging |
Het |
| Nmur1 |
G |
A |
1: 86,314,100 (GRCm39) |
P389S |
probably benign |
Het |
| Or10d5 |
G |
T |
9: 39,861,349 (GRCm39) |
C239* |
probably null |
Het |
| Or1p1 |
T |
C |
11: 74,179,511 (GRCm39) |
L13P |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,251 (GRCm39) |
Y290C |
probably damaging |
Het |
| Patl2 |
A |
C |
2: 121,958,006 (GRCm39) |
V84G |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,328 (GRCm39) |
V546A |
probably damaging |
Het |
| Phf20l1 |
G |
T |
15: 66,469,599 (GRCm39) |
S168I |
possibly damaging |
Het |
| Phgdh |
T |
C |
3: 98,247,045 (GRCm39) |
N35S |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,768,789 (GRCm39) |
M180K |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,270,925 (GRCm39) |
H3209Q |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,624,861 (GRCm39) |
F436L |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,068,553 (GRCm39) |
T1358A |
probably benign |
Het |
| Poll |
C |
T |
19: 45,541,496 (GRCm39) |
V491M |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,024,553 (GRCm39) |
|
probably null |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,279 (GRCm39) |
W258* |
probably null |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,142 (GRCm39) |
F430I |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,555,742 (GRCm39) |
E739G |
probably damaging |
Het |
| Ramp2 |
T |
C |
11: 101,138,765 (GRCm39) |
V148A |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,501,747 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,627,593 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,254,241 (GRCm39) |
S88C |
probably benign |
Het |
| Rpl12 |
A |
G |
2: 32,853,836 (GRCm39) |
I155V |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,841,520 (GRCm39) |
T275S |
probably benign |
Het |
| Senp5 |
C |
T |
16: 31,794,847 (GRCm39) |
E596K |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,379,916 (GRCm39) |
Y85C |
probably benign |
Het |
| Serpinf1 |
T |
A |
11: 75,307,142 (GRCm39) |
Y65F |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,068,404 (GRCm39) |
|
probably null |
Het |
| Spatc1 |
A |
T |
15: 76,152,568 (GRCm39) |
Q66L |
probably benign |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,439,110 (GRCm39) |
D342G |
probably benign |
Het |
| Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
| Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,315,535 (GRCm39) |
N3025K |
possibly damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,862 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,694 (GRCm39) |
S157T |
probably benign |
Het |
| Zfp977 |
A |
G |
7: 42,229,884 (GRCm39) |
S214P |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,828,979 (GRCm39) |
L507P |
possibly 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 |
|
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'- TGGAAACACTGGGTTCTCCC -3'
(R):5'- AGCTCAAGTCAGTCTGTATGGAC -3'
Sequencing Primer
(F):5'- CCACCCCTTAGGAATTCCATC -3'
(R):5'- GGACATAATGTTCAGTTCACCAAGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation