Incidental Mutation 'R8995:Bank1'
| ID |
684646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
068826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135772264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 656
(D656E)
|
| 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: D656E
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: D656E
| 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: D523E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: D523E
| 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 benign
Transcript: ENSMUST00000198206
AA Change: D455E
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: D455E
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
A |
G |
8: 122,257,764 (GRCm39) |
*214R |
probably null |
Het |
| Acd |
A |
G |
8: 106,427,131 (GRCm39) |
L93P |
probably damaging |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Aldh1b1 |
T |
A |
4: 45,803,413 (GRCm39) |
M317K |
possibly damaging |
Het |
| Arfgap2 |
C |
A |
2: 91,103,929 (GRCm39) |
Q342K |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,235,886 (GRCm39) |
R323C |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 135,000,989 (GRCm39) |
M120V |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,749,103 (GRCm39) |
I73M |
probably damaging |
Het |
| Cd207 |
C |
A |
6: 83,652,891 (GRCm39) |
D80Y |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,398,093 (GRCm39) |
T937A |
probably damaging |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Csnk2a1-ps3 |
T |
A |
1: 156,352,873 (GRCm39) |
V358E |
probably benign |
Het |
| Ddx50 |
A |
G |
10: 62,469,862 (GRCm39) |
I375T |
probably damaging |
Het |
| Dhrs1 |
T |
A |
14: 55,977,396 (GRCm39) |
T241S |
probably benign |
Het |
| Eef1b2 |
T |
C |
1: 63,217,629 (GRCm39) |
Y79H |
probably damaging |
Het |
| Elmod2 |
A |
G |
8: 84,049,315 (GRCm39) |
C84R |
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,736,127 (GRCm39) |
H837R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,898 (GRCm39) |
N875S |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,743,817 (GRCm39) |
L413Q |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,860,415 (GRCm39) |
V2154F |
possibly damaging |
Het |
| Golm2 |
A |
C |
2: 121,756,199 (GRCm39) |
E409D |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,392,422 (GRCm39) |
V229M |
possibly damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,617 (GRCm39) |
V52E |
probably damaging |
Het |
| Igkv4-58 |
A |
G |
6: 69,477,511 (GRCm39) |
S29P |
probably damaging |
Het |
| Klc1 |
G |
A |
12: 111,743,344 (GRCm39) |
A224T |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,902,990 (GRCm39) |
S1564P |
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,207,382 (GRCm39) |
D399G |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,207,993 (GRCm39) |
Q98R |
probably benign |
Het |
| Lpar1 |
T |
A |
4: 58,486,954 (GRCm39) |
M106L |
probably damaging |
Het |
| Mpc1 |
A |
G |
17: 8,502,784 (GRCm39) |
Y21C |
probably benign |
Het |
| Msr1 |
T |
A |
8: 40,042,460 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ndc80 |
T |
C |
17: 71,815,598 (GRCm39) |
N396D |
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,131,169 (GRCm39) |
F178S |
probably damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,620 (GRCm39) |
T77S |
probably benign |
Het |
| Or8g54 |
T |
C |
9: 39,707,313 (GRCm39) |
I214T |
possibly damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,230 (GRCm39) |
F133L |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,244,746 (GRCm39) |
|
probably null |
Het |
| Pld5 |
A |
T |
1: 175,791,580 (GRCm39) |
D475E |
probably benign |
Het |
| Potefam3f |
A |
T |
8: 20,479,025 (GRCm39) |
H11L |
|
Het |
| Prop1 |
G |
A |
11: 50,841,887 (GRCm39) |
P173L |
possibly damaging |
Het |
| Rabepk |
G |
A |
2: 34,689,842 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,184,577 (GRCm39) |
I1646T |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,386,095 (GRCm39) |
L321Q |
probably damaging |
Het |
| Rfx3 |
T |
A |
19: 27,783,725 (GRCm39) |
E382V |
probably benign |
Het |
| Rnf20 |
C |
T |
4: 49,648,437 (GRCm39) |
T415I |
possibly damaging |
Het |
| Rpl10-ps3 |
T |
A |
9: 50,256,078 (GRCm39) |
D55V |
probably benign |
Het |
| Sag |
A |
G |
1: 87,733,052 (GRCm39) |
T7A |
probably benign |
Het |
| Saysd1 |
G |
A |
14: 20,133,005 (GRCm39) |
R51C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,040,574 (GRCm39) |
Y682* |
probably null |
Het |
| Slc6a13 |
T |
C |
6: 121,302,012 (GRCm39) |
I198T |
probably damaging |
Het |
| Slx9 |
G |
A |
10: 77,333,303 (GRCm39) |
R121* |
probably null |
Het |
| Smyd5 |
C |
A |
6: 85,415,829 (GRCm39) |
C101* |
probably null |
Het |
| Spata31d1d |
A |
G |
13: 59,874,421 (GRCm39) |
V1038A |
probably benign |
Het |
| Stat6 |
T |
C |
10: 127,494,511 (GRCm39) |
S692P |
probably benign |
Het |
| Tbc1d9 |
A |
T |
8: 83,998,180 (GRCm39) |
M1246L |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,025,894 (GRCm39) |
|
probably null |
Het |
| Trim12a |
A |
T |
7: 103,953,532 (GRCm39) |
M193K |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,899,658 (GRCm39) |
L102H |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,697,034 (GRCm39) |
R1623W |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,176,850 (GRCm39) |
M1338R |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,175,825 (GRCm39) |
L112Q |
probably damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,757 (GRCm39) |
M189T |
probably benign |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,668 (GRCm39) |
V194A |
probably benign |
Het |
| Vmn2r33 |
A |
G |
7: 7,554,192 (GRCm39) |
V787A |
probably damaging |
Het |
| Vps26a |
A |
G |
10: 62,300,458 (GRCm39) |
I236T |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,195,996 (GRCm39) |
L343Q |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,205,369 (GRCm39) |
V1032A |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,393,882 (GRCm39) |
F4523S |
unknown |
Het |
| Zfand5 |
T |
A |
19: 21,254,387 (GRCm39) |
V66E |
probably benign |
Het |
| Zfp658 |
T |
A |
7: 43,222,798 (GRCm39) |
C358S |
possibly damaging |
Het |
| Zfp977 |
T |
A |
7: 42,232,072 (GRCm39) |
R64W |
probably damaging |
Het |
| Zfp995 |
C |
T |
17: 22,099,172 (GRCm39) |
S354N |
probably benign |
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 |
|
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 |
|
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'- TTCCAGAAGATCATATTACCTGCTG -3'
(R):5'- TGGGGCAGGAAGATCTTCAG -3'
Sequencing Primer
(F):5'- TGCTGAATCATTTCCAGACCAC -3'
(R):5'- AGGAAGATCTTCAGTATGTGGTCATC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation