Incidental Mutation 'R6087:Bank1'
| ID |
484599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
044244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6087 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135772190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 480
(L480P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041577
AA Change: L681P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: L681P
| 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 damaging
Transcript: ENSMUST00000196159
AA Change: L548P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: L548P
| 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: L480P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: L480P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,119,621 (GRCm39) |
K126R |
possibly damaging |
Het |
| Adam7 |
A |
T |
14: 68,748,206 (GRCm39) |
C548S |
probably damaging |
Het |
| Adar |
C |
A |
3: 89,652,897 (GRCm39) |
H260N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,258,828 (GRCm39) |
E775G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,568 (GRCm39) |
Y499C |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,763,638 (GRCm39) |
|
probably null |
Het |
| Cnga1 |
G |
T |
5: 72,768,155 (GRCm39) |
A177E |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,432,658 (GRCm39) |
D1221V |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,648,205 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,138,438 (GRCm39) |
N1254K |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,449,255 (GRCm39) |
S128P |
probably damaging |
Het |
| Fam13b |
C |
T |
18: 34,620,192 (GRCm39) |
V231I |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,353 (GRCm39) |
Y122N |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,708,002 (GRCm39) |
I378F |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,812 (GRCm39) |
Q861L |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ighv3-8 |
G |
T |
12: 114,286,000 (GRCm39) |
A114E |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,269 (GRCm39) |
|
probably null |
Het |
| Kank1 |
G |
A |
19: 25,387,088 (GRCm39) |
V254I |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,443,375 (GRCm39) |
I147K |
unknown |
Het |
| Lrfn2 |
A |
G |
17: 49,378,154 (GRCm39) |
S412G |
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,534 (GRCm39) |
N261S |
possibly damaging |
Het |
| Mical2 |
C |
T |
7: 111,917,692 (GRCm39) |
Q350* |
probably null |
Het |
| Nras |
T |
C |
3: 102,967,637 (GRCm39) |
F78L |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,198,679 (GRCm39) |
I65V |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,259 (GRCm39) |
D277G |
probably benign |
Het |
| Or4f17-ps1 |
A |
T |
2: 111,358,526 (GRCm39) |
E289V |
possibly damaging |
Het |
| Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,502,301 (GRCm39) |
S175A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,290,869 (GRCm39) |
K445E |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,271,705 (GRCm39) |
Y318H |
probably benign |
Het |
| Ret |
G |
T |
6: 118,153,252 (GRCm39) |
T472K |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,155,709 (GRCm39) |
D1343G |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,409,864 (GRCm38) |
R844S |
probably benign |
Het |
| Vmn1r171 |
T |
A |
7: 23,332,429 (GRCm39) |
M218K |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,695,033 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
T |
A |
14: 75,568,149 (GRCm39) |
D1147E |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,135 (GRCm39) |
L1703H |
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 |
|
R6012:Bank1
|
UTSW |
3 |
135,919,598 (GRCm39) |
missense |
probably benign |
0.44 |
|
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'- GCAAACATCATTTTAGTGGTGC -3'
(R):5'- CAACTGTGAATATCAGTTAAGAGGG -3'
Sequencing Primer
(F):5'- CATCATTTTAGTGGTGCGTTAAGAAC -3'
(R):5'- GAGAGAATCCAATGGTTTATCATGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation