Incidental Mutation 'V1662:Bank1'
| ID |
63478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| Accession Numbers |
Genbank: NM_001033350.2
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
V1662 ()
of strain
633
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
136053363-136326066 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136054418 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 782
(D782V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041577
AA Change: D782V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: D782V
| 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 damaging
Transcript: ENSMUST00000196159
AA Change: D649V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: D649V
| 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 damaging
Transcript: ENSMUST00000198206
AA Change: D581V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: D581V
| 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 |
0.0711 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
C |
5: 114,238,708 |
G1951R |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,071,808 |
L146Q |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,852,579 |
I111T |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,139,370 |
V601M |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,173,253 |
K1024E |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,633,329 |
R154Q |
probably damaging |
Het |
| Bhlha9 |
G |
T |
11: 76,673,036 |
R163L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,377,309 |
N1913D |
possibly damaging |
Het |
| Cd7 |
T |
C |
11: 121,037,126 |
I184V |
probably benign |
Het |
| Cdk2ap1 |
T |
A |
5: 124,348,676 |
I68F |
possibly damaging |
Het |
| Cfap44 |
C |
A |
16: 44,449,138 |
Y1168* |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,111,892 |
S346P |
unknown |
Het |
| Daam2 |
A |
G |
17: 49,464,601 |
L839P |
possibly damaging |
Het |
| Fam198a |
A |
G |
9: 121,965,025 |
R82G |
probably damaging |
Het |
| Gm7030 |
A |
G |
17: 36,128,931 |
Y104H |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,898,542 |
H270R |
probably benign |
Het |
| Itgav |
C |
T |
2: 83,783,854 |
R519W |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,122,932 |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 158,052,789 |
I277K |
probably damaging |
Het |
| Olfr1025-ps1 |
C |
A |
2: 85,918,594 |
T223K |
probably benign |
Het |
| Olfr1350 |
A |
T |
7: 6,570,819 |
Y276F |
probably damaging |
Het |
| Olfr1373 |
T |
C |
11: 52,145,177 |
M118V |
probably damaging |
Het |
| Olfr524 |
C |
T |
7: 140,201,958 |
D271N |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,358,443 |
G307S |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,349,560 |
Y443F |
probably damaging |
Het |
| Rpusd4 |
C |
A |
9: 35,272,761 |
S237R |
probably benign |
Het |
| Sdk2 |
A |
C |
11: 113,834,908 |
W1172G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,421,640 |
Y675H |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,219,075 |
I249T |
possibly damaging |
Het |
|
| Other mutations in Bank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Bank1
|
APN |
3 |
136247634 |
missense |
probably damaging |
0.99 |
|
IGL03088:Bank1
|
APN |
3 |
136093362 |
missense |
probably damaging |
0.98 |
|
IGL03190:Bank1
|
APN |
3 |
136100424 |
missense |
probably damaging |
1.00 |
|
I2289:Bank1
|
UTSW |
3 |
136054418 |
missense |
probably damaging |
1.00 |
|
PIT4504001:Bank1
|
UTSW |
3 |
136100419 |
missense |
probably damaging |
1.00 |
|
R0193:Bank1
|
UTSW |
3 |
136066518 |
splice site |
probably benign |
|
|
R0423:Bank1
|
UTSW |
3 |
136284017 |
missense |
possibly damaging |
0.68 |
|
R0518:Bank1
|
UTSW |
3 |
136213942 |
missense |
probably damaging |
1.00 |
|
R0521:Bank1
|
UTSW |
3 |
136213942 |
missense |
probably damaging |
1.00 |
|
R0587:Bank1
|
UTSW |
3 |
136214037 |
splice site |
probably benign |
|
|
R0628:Bank1
|
UTSW |
3 |
136066390 |
missense |
probably damaging |
1.00 |
|
R0723:Bank1
|
UTSW |
3 |
136054403 |
splice site |
probably null |
|
|
R0811:Bank1
|
UTSW |
3 |
136093366 |
missense |
probably damaging |
1.00 |
|
R0812:Bank1
|
UTSW |
3 |
136093366 |
missense |
probably damaging |
1.00 |
|
R1101:Bank1
|
UTSW |
3 |
136283864 |
missense |
probably benign |
0.08 |
|
R1446:Bank1
|
UTSW |
3 |
136064143 |
missense |
probably damaging |
1.00 |
|
R1564:Bank1
|
UTSW |
3 |
136213841 |
nonsense |
probably null |
|
|
R1636:Bank1
|
UTSW |
3 |
136083226 |
missense |
probably damaging |
1.00 |
|
R1667:Bank1
|
UTSW |
3 |
136093296 |
missense |
probably damaging |
1.00 |
|
R1751:Bank1
|
UTSW |
3 |
136234614 |
missense |
probably benign |
0.00 |
|
R1751:Bank1
|
UTSW |
3 |
136254937 |
missense |
probably benign |
0.00 |
|
R2023:Bank1
|
UTSW |
3 |
136325918 |
missense |
probably benign |
0.02 |
|
R2851:Bank1
|
UTSW |
3 |
136242940 |
missense |
possibly damaging |
0.92 |
|
R2852:Bank1
|
UTSW |
3 |
136242940 |
missense |
possibly damaging |
0.92 |
|
R3411:Bank1
|
UTSW |
3 |
136247773 |
splice site |
probably benign |
|
|
R4422:Bank1
|
UTSW |
3 |
136083211 |
missense |
probably damaging |
0.99 |
|
R4499:Bank1
|
UTSW |
3 |
136284243 |
missense |
probably benign |
0.44 |
|
R4693:Bank1
|
UTSW |
3 |
136247676 |
missense |
probably damaging |
0.99 |
|
R4744:Bank1
|
UTSW |
3 |
136247689 |
missense |
probably benign |
0.12 |
|
R4791:Bank1
|
UTSW |
3 |
136254929 |
missense |
probably benign |
0.00 |
|
R4911:Bank1
|
UTSW |
3 |
136284243 |
missense |
probably benign |
0.44 |
|
R4967:Bank1
|
UTSW |
3 |
136066373 |
missense |
probably damaging |
1.00 |
|
R4979:Bank1
|
UTSW |
3 |
136254901 |
missense |
probably damaging |
0.99 |
|
R5119:Bank1
|
UTSW |
3 |
136234682 |
missense |
possibly damaging |
0.67 |
|
R5284:Bank1
|
UTSW |
3 |
136064154 |
missense |
probably damaging |
1.00 |
|
R5547:Bank1
|
UTSW |
3 |
136066349 |
missense |
probably damaging |
0.99 |
|
R5610:Bank1
|
UTSW |
3 |
136066387 |
missense |
probably damaging |
1.00 |
|
R6012:Bank1
|
UTSW |
3 |
136213837 |
missense |
probably benign |
0.44 |
|
R6087:Bank1
|
UTSW |
3 |
136066429 |
missense |
probably damaging |
1.00 |
|
R6753:Bank1
|
UTSW |
3 |
136093308 |
missense |
probably damaging |
1.00 |
|
R6764:Bank1
|
UTSW |
3 |
136242940 |
missense |
probably damaging |
0.97 |
|
R6861:Bank1
|
UTSW |
3 |
136255003 |
missense |
probably benign |
0.33 |
|
R7013:Bank1
|
UTSW |
3 |
136100509 |
missense |
possibly damaging |
0.74 |
|
R7436:Bank1
|
UTSW |
3 |
136055800 |
missense |
possibly damaging |
0.76 |
|
R7918:Bank1
|
UTSW |
3 |
136093362 |
missense |
probably damaging |
0.98 |
|
R8262:Bank1
|
UTSW |
3 |
136242960 |
missense |
probably benign |
0.01 |
|
R8321:Bank1
|
UTSW |
3 |
136234634 |
missense |
possibly damaging |
0.91 |
|
R8822:Bank1
|
UTSW |
3 |
136103879 |
missense |
possibly damaging |
0.95 |
|
R8937:Bank1
|
UTSW |
3 |
136284173 |
missense |
probably damaging |
1.00 |
|
R8995:Bank1
|
UTSW |
3 |
136066503 |
missense |
possibly damaging |
0.74 |
|
R9010:Bank1
|
UTSW |
3 |
136055798 |
missense |
probably benign |
0.01 |
|
R9069:Bank1
|
UTSW |
3 |
136284011 |
missense |
probably benign |
0.02 |
|
R9327:Bank1
|
UTSW |
3 |
136093547 |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGCAGATTAGCCCTGGAGAC -3'
(R):5'- TCCCAGAACTGTGAATGGCAGC -3'
Sequencing Primer
(F):5'- TAGCCCTGGAGACCAGGTATTC -3'
(R):5'- ACTGTGAATGGCAGCTATGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation