Incidental Mutation 'R1667:Bank1'
| ID |
187267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
039703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1667 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135799057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 629
(Y629F)
|
| 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: Y629F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: Y629F
| 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: Y496F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: Y496F
| 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: Y428F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: Y428F
| 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
|
| Meta Mutation Damage Score |
0.2258 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (76/77) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,425,564 (GRCm39) |
A26T |
possibly damaging |
Het |
| Adgrg3 |
T |
A |
8: 95,760,001 (GRCm39) |
Y73* |
probably null |
Het |
| Alk |
A |
T |
17: 72,218,562 (GRCm39) |
V761E |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,924,794 (GRCm39) |
V93A |
possibly damaging |
Het |
| Anks1b |
T |
C |
10: 90,347,046 (GRCm39) |
|
probably null |
Het |
| Arb2a |
T |
A |
13: 77,907,635 (GRCm39) |
M1K |
probably null |
Het |
| Ascl1 |
T |
C |
10: 87,328,655 (GRCm39) |
N99S |
probably benign |
Het |
| Atm |
A |
T |
9: 53,412,232 (GRCm39) |
L972Q |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,309,996 (GRCm39) |
L566Q |
probably null |
Het |
| Bod1l |
G |
T |
5: 41,974,118 (GRCm39) |
L2399I |
probably benign |
Het |
| Bub1b |
G |
A |
2: 118,471,670 (GRCm39) |
G1010D |
probably benign |
Het |
| Ces1b |
G |
A |
8: 93,783,532 (GRCm39) |
H563Y |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,454,225 (GRCm39) |
E853G |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,033,261 (GRCm39) |
E779G |
probably benign |
Het |
| Cox7c |
A |
G |
13: 86,194,003 (GRCm39) |
S7P |
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,632,034 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
G |
T |
9: 109,914,513 (GRCm39) |
L995I |
possibly damaging |
Het |
| Dhx30 |
G |
C |
9: 109,914,514 (GRCm39) |
N957K |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 20,124,617 (GRCm39) |
T36A |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,384,657 (GRCm39) |
D717G |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,055 (GRCm39) |
D7G |
probably damaging |
Het |
| E230001N04Rik |
T |
G |
17: 28,742,935 (GRCm39) |
|
noncoding transcript |
Het |
| Ece2 |
T |
C |
16: 20,456,588 (GRCm39) |
S330P |
possibly damaging |
Het |
| Frmd5 |
ATAGTGGAATTGTTCAAACTC |
ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC |
2: 121,379,211 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
C |
2: 9,882,360 (GRCm39) |
H14R |
possibly damaging |
Het |
| Ggta1 |
T |
A |
2: 35,304,295 (GRCm39) |
I75F |
possibly damaging |
Het |
| Hcn1 |
A |
T |
13: 117,739,609 (GRCm39) |
I124F |
unknown |
Het |
| Herpud1 |
A |
C |
8: 95,115,994 (GRCm39) |
D53A |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,201,209 (GRCm39) |
L257Q |
possibly damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Jmy |
T |
A |
13: 93,634,878 (GRCm39) |
S313C |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,698,067 (GRCm39) |
|
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,170 (GRCm39) |
E315G |
probably damaging |
Het |
| Lsm14a |
T |
A |
7: 34,065,079 (GRCm39) |
T167S |
possibly damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map3k2 |
T |
C |
18: 32,336,845 (GRCm39) |
|
probably benign |
Het |
| Mapk12 |
A |
T |
15: 89,024,344 (GRCm39) |
M81K |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,378,878 (GRCm39) |
C305S |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,653,978 (GRCm39) |
Y844H |
possibly damaging |
Het |
| Mgat5b |
A |
G |
11: 116,838,203 (GRCm39) |
R281G |
probably benign |
Het |
| Mon1b |
T |
G |
8: 114,368,589 (GRCm39) |
C497G |
probably damaging |
Het |
| Mybbp1a |
A |
T |
11: 72,336,043 (GRCm39) |
H452L |
probably benign |
Het |
| Mybl2 |
A |
G |
2: 162,917,616 (GRCm39) |
T41A |
probably damaging |
Het |
| Ncoa5 |
A |
G |
2: 164,843,623 (GRCm39) |
V540A |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,019,315 (GRCm39) |
V47E |
possibly damaging |
Het |
| Or10a4 |
A |
T |
7: 106,696,977 (GRCm39) |
M102L |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,129,080 (GRCm39) |
M307V |
probably null |
Het |
| Orc6 |
T |
A |
8: 86,031,914 (GRCm39) |
C100S |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,649,826 (GRCm39) |
Y1176* |
probably null |
Het |
| Patj |
A |
T |
4: 98,301,264 (GRCm39) |
D183V |
probably damaging |
Het |
| Pik3r3 |
A |
G |
4: 116,079,514 (GRCm39) |
T4A |
probably damaging |
Het |
| Pla2g4d |
G |
A |
2: 120,100,631 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,250,601 (GRCm39) |
I1407T |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,606 (GRCm39) |
C320* |
probably null |
Het |
| Prex2 |
A |
T |
1: 11,256,981 (GRCm39) |
H1231L |
probably benign |
Het |
| Prkca |
A |
G |
11: 107,874,772 (GRCm39) |
V390A |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,856,253 (GRCm39) |
N37K |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,397,672 (GRCm39) |
E361K |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,699 (GRCm39) |
L187Q |
probably damaging |
Het |
| Skint11 |
A |
T |
4: 114,051,978 (GRCm39) |
T109S |
probably damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,962,306 (GRCm39) |
S443P |
probably damaging |
Het |
| Slc8b1 |
T |
A |
5: 120,659,147 (GRCm39) |
F197Y |
probably benign |
Het |
| Sox2 |
T |
C |
3: 34,704,568 (GRCm39) |
Y2H |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,387,193 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,853,874 (GRCm39) |
N149D |
probably benign |
Het |
| Trim60 |
A |
C |
8: 65,454,116 (GRCm39) |
D44E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,657 (GRCm39) |
Y272C |
probably damaging |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,738 (GRCm39) |
Y81N |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,889 (GRCm39) |
C808S |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp672 |
T |
C |
11: 58,206,921 (GRCm39) |
T467A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,407 (GRCm39) |
Q425L |
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 |
|
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 |
|
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'- CCTCTAACCCCAGGTCTTCTATAAACCA -3'
(R):5'- ACCTCCTTTCAAAGCATTGGAGTTGAT -3'
Sequencing Primer
(F):5'- acccaggttcaatgtctaacac -3'
(R):5'- aggaggaggaggaagaagaag -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation