Incidental Mutation 'R4744:Bank1'
| ID |
356559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
042027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135953450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 102
(R102S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041577
AA Change: R235S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: R235S
| 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: R102S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: R102S
| 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: R102S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: R102S
| 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 |
0.0892 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (82/83) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,017,617 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,066,365 (GRCm39) |
K614E |
probably damaging |
Het |
| Aatk |
A |
G |
11: 119,906,948 (GRCm39) |
M155T |
possibly damaging |
Het |
| Acvr2b |
T |
C |
9: 119,260,328 (GRCm39) |
L333P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,128,699 (GRCm39) |
E865G |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,870 (GRCm39) |
S358G |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,072 (GRCm39) |
|
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,344,604 (GRCm39) |
W49* |
probably null |
Het |
| AU015228 |
A |
T |
2: 129,942,549 (GRCm39) |
|
noncoding transcript |
Het |
| Brap |
T |
A |
5: 121,800,193 (GRCm39) |
D27E |
probably damaging |
Het |
| Cyb5r2 |
G |
T |
7: 107,349,484 (GRCm39) |
H276N |
possibly damaging |
Het |
| Dhh |
A |
G |
15: 98,792,139 (GRCm39) |
F290L |
possibly damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,699,025 (GRCm39) |
N319I |
possibly damaging |
Het |
| Ebpl |
A |
G |
14: 61,597,682 (GRCm39) |
V53A |
probably damaging |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Etnk1 |
A |
C |
6: 143,132,319 (GRCm39) |
N220T |
probably damaging |
Het |
| F11r |
T |
A |
1: 171,288,166 (GRCm39) |
V64D |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,225,946 (GRCm39) |
S360P |
probably damaging |
Het |
| Fignl1 |
A |
G |
11: 11,751,585 (GRCm39) |
M490T |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,265 (GRCm39) |
M75K |
probably benign |
Het |
| Fzd7 |
T |
A |
1: 59,523,595 (GRCm39) |
F493I |
possibly damaging |
Het |
| Galnt14 |
G |
T |
17: 73,814,828 (GRCm39) |
P412T |
probably damaging |
Het |
| Gcg |
T |
A |
2: 62,308,975 (GRCm39) |
S60C |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,733 (GRCm39) |
K527E |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,758,153 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9972 |
A |
G |
11: 42,927,517 (GRCm39) |
K55E |
unknown |
Het |
| Gpr141 |
T |
A |
13: 19,935,884 (GRCm39) |
D297V |
probably benign |
Het |
| Grin2b |
G |
A |
6: 135,755,697 (GRCm39) |
S539L |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,238 (GRCm39) |
N515I |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,453,363 (GRCm39) |
E5317D |
probably damaging |
Het |
| Hsf5 |
T |
A |
11: 87,513,617 (GRCm39) |
N227K |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,910,196 (GRCm39) |
D129E |
probably benign |
Het |
| Invs |
T |
C |
4: 48,397,609 (GRCm39) |
F339L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,239,656 (GRCm39) |
S17T |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,844,501 (GRCm39) |
I166F |
probably benign |
Het |
| Nck1 |
T |
C |
9: 100,388,797 (GRCm39) |
I6V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,661 (GRCm39) |
Y17H |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,310 (GRCm39) |
L1298P |
probably damaging |
Het |
| Ocel1 |
A |
G |
8: 71,825,397 (GRCm39) |
E161G |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,991 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
A |
G |
18: 39,907,881 (GRCm39) |
Y382C |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,921,594 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,872,641 (GRCm39) |
V147D |
probably benign |
Het |
| Pigz |
A |
T |
16: 31,764,151 (GRCm39) |
H403L |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,833,769 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,031,451 (GRCm39) |
L558P |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,380 (GRCm39) |
R322H |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,174,658 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
T |
C |
7: 28,476,438 (GRCm39) |
F26L |
probably damaging |
Het |
| Slc1a1 |
A |
T |
19: 28,871,925 (GRCm39) |
T133S |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,568,214 (GRCm39) |
I84V |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,353,286 (GRCm39) |
K489* |
probably null |
Het |
| Slc6a9 |
A |
T |
4: 117,725,092 (GRCm39) |
Q562L |
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,167,773 (GRCm39) |
Q25* |
probably null |
Het |
| St6galnac6 |
A |
G |
2: 32,508,555 (GRCm39) |
I231V |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,604 (GRCm39) |
T954A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,472,069 (GRCm39) |
M443V |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,856,266 (GRCm39) |
D8G |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,248 (GRCm39) |
R233W |
probably damaging |
Het |
| Tex10 |
A |
G |
4: 48,469,990 (GRCm39) |
L25S |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,794 (GRCm39) |
V1254D |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,310,639 (GRCm39) |
I307N |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,839,126 (GRCm39) |
D575G |
probably damaging |
Het |
| Usf2 |
A |
T |
7: 30,654,197 (GRCm39) |
D166E |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,877 (GRCm39) |
L969M |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,885,219 (GRCm39) |
P1276L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,447 (GRCm39) |
E58D |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,011,598 (GRCm39) |
C40F |
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 |
|
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'- GGCTGCTATTTCCCTAAATGGTATAC -3'
(R):5'- CTGACAGGTTTAAGAGTTTGATCAC -3'
Sequencing Primer
(F):5'- AGGATTTACACAATCTCGCTTTTGC -3'
(R):5'- CTAATGAACATAGCAGGCACTTTGG -3'
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| Posted On |
2015-11-11 |
Incidental Mutation