Incidental Mutation 'R0193:Bank1'
ID 43528
Institutional Source Beutler Lab
Gene Symbol Bank1
Ensembl Gene ENSMUSG00000037922
Gene Name B cell scaffold protein with ankyrin repeats 1
Synonyms A530094C12Rik
MMRRC Submission 038452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0193 (G1)
Quality Score 97
Status Validated
Chromosome 3
Chromosomal Location 135759124-136031827 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 135772279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041577] [ENSMUST00000196159] [ENSMUST00000198206]
AlphaFold Q80VH0
Predicted Effect probably benign
Transcript: ENSMUST00000041577
SMART Domains Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922

DomainStartEndE-ValueType
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: 98.9%
  • 3x: 98.0%
  • 10x: 94.7%
  • 20x: 85.3%
Validation Efficiency 95% (186/196)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,444,005 (GRCm39) S96P probably damaging Het
Akr1c20 A G 13: 4,561,292 (GRCm39) probably benign Het
Atp2a3 G T 11: 72,863,046 (GRCm39) V99L possibly damaging Het
Atp6v0a1 T A 11: 100,939,308 (GRCm39) I691N possibly damaging Het
Atp8b1 C T 18: 64,694,707 (GRCm39) R525Q probably benign Het
Aurkb A G 11: 68,939,370 (GRCm39) D151G probably damaging Het
Bcl9l T C 9: 44,418,703 (GRCm39) L847P probably damaging Het
Bscl2 T A 19: 8,824,793 (GRCm39) M292K probably benign Het
Cacna1c C T 6: 118,579,363 (GRCm39) probably benign Het
Cadps2 T C 6: 23,599,439 (GRCm39) K260R probably benign Het
Cc2d2a T C 5: 43,893,460 (GRCm39) S1419P probably damaging Het
Ccdc180 G A 4: 45,914,803 (GRCm39) E145K probably benign Het
Ccno C T 13: 113,125,418 (GRCm39) probably benign Het
Cd300a A G 11: 114,784,202 (GRCm39) D70G probably benign Het
Cenpc1 T C 5: 86,180,262 (GRCm39) D670G probably benign Het
Cenpl A G 1: 160,913,558 (GRCm39) I323V probably damaging Het
Cfap44 A G 16: 44,269,573 (GRCm39) probably null Het
Cfap74 C T 4: 155,510,572 (GRCm39) R386C probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clcnkb T C 4: 141,139,627 (GRCm39) E125G possibly damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Coro7 G A 16: 4,445,368 (GRCm39) probably benign Het
Dchs1 C T 7: 105,414,190 (GRCm39) R875H probably benign Het
Eif3j1 A C 2: 121,882,508 (GRCm39) M239L probably benign Het
Eif4g3 G T 4: 137,873,687 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Erbb4 T C 1: 68,083,119 (GRCm39) probably benign Het
Erlin2 T G 8: 27,521,792 (GRCm39) V164G possibly damaging Het
Fbxo43 G T 15: 36,162,029 (GRCm39) Q393K probably benign Het
Fcgr4 A T 1: 170,853,329 (GRCm39) N178I possibly damaging Het
Grid2 A G 6: 64,040,937 (GRCm39) N293S possibly damaging Het
H2-M1 C T 17: 36,982,224 (GRCm39) V126I probably benign Het
Htr1f T A 16: 64,747,112 (GRCm39) Y60F probably damaging Het
Ilf2 A G 3: 90,388,646 (GRCm39) probably null Het
Impg2 A T 16: 56,085,412 (GRCm39) K931* probably null Het
Ints1 T C 5: 139,737,485 (GRCm39) E2176G probably damaging Het
Iqsec2 T C X: 151,006,399 (GRCm39) V1319A probably benign Het
Iqsec3 G T 6: 121,387,683 (GRCm39) D685E probably damaging Het
Itgbl1 G A 14: 124,083,958 (GRCm39) V279I probably benign Het
Kdm4b C T 17: 56,700,952 (GRCm39) A541V probably benign Het
Kif14 A T 1: 136,396,176 (GRCm39) T161S probably benign Het
Krt86 T C 15: 101,377,244 (GRCm39) probably benign Het
Kyat1 C T 2: 30,077,198 (GRCm39) probably null Het
Limch1 T C 5: 67,184,882 (GRCm39) W791R probably damaging Het
Map3k11 T A 19: 5,745,874 (GRCm39) M396K probably damaging Het
Mat2a A G 6: 72,413,178 (GRCm39) probably null Het
Mbnl2 A G 14: 120,616,649 (GRCm39) I88V possibly damaging Het
Mib2 T C 4: 155,740,130 (GRCm39) T708A probably benign Het
Mix23 T C 16: 35,903,184 (GRCm39) S59P probably damaging Het
Mkks T C 2: 136,719,526 (GRCm39) probably null Het
Mtss1 T C 15: 58,815,866 (GRCm39) M565V probably damaging Het
Myoc A G 1: 162,476,604 (GRCm39) N436S probably damaging Het
Myod1 T A 7: 46,026,536 (GRCm39) V147E probably damaging Het
Ngef A G 1: 87,437,056 (GRCm39) L144P probably benign Het
Ngrn C T 7: 79,911,678 (GRCm39) R92W probably damaging Het
Nup153 G A 13: 46,863,130 (GRCm39) T349I probably benign Het
Or4c15 T A 2: 88,760,627 (GRCm39) I11L probably benign Het
Or52ad1 G T 7: 102,995,411 (GRCm39) S241R possibly damaging Het
Pigl A G 11: 62,394,574 (GRCm39) I135M probably damaging Het
Pitpnm3 A G 11: 71,961,318 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,429,141 (GRCm39) F2420I probably damaging Het
Polr2b C T 5: 77,467,923 (GRCm39) T119M probably damaging Het
Prr29 A G 11: 106,267,722 (GRCm39) Y130C probably damaging Het
Rab11fip3 T C 17: 26,209,973 (GRCm39) I1048V probably damaging Het
Rab12 G A 17: 66,807,357 (GRCm39) T124I probably damaging Het
Rab44 A G 17: 29,359,281 (GRCm39) S490G probably benign Het
Rasa3 A G 8: 13,620,233 (GRCm39) probably null Het
Rhbdl3 C T 11: 80,244,400 (GRCm39) S369L possibly damaging Het
Rimbp2 A T 5: 128,865,420 (GRCm39) S643T probably benign Het
Rin1 T G 19: 5,102,680 (GRCm39) S396R probably damaging Het
Rpusd3 C T 6: 113,396,198 (GRCm39) G28S probably damaging Het
Rtl9 T A X: 141,883,274 (GRCm39) S229T probably damaging Het
Rufy1 G T 11: 50,280,679 (GRCm39) T701N probably benign Het
Scn4a A T 11: 106,211,364 (GRCm39) L1551* probably null Het
Sec24b T C 3: 129,782,633 (GRCm39) N1119S probably null Het
Serbp1 T A 6: 67,249,868 (GRCm39) *75R probably null Het
Setx C T 2: 29,069,685 (GRCm39) P2497S probably benign Het
Slc26a11 A T 11: 119,250,140 (GRCm39) I132F probably damaging Het
Slc4a1 A G 11: 102,243,510 (GRCm39) V707A possibly damaging Het
Slfn1 A G 11: 83,012,669 (GRCm39) I262V probably damaging Het
Tmem168 T A 6: 13,583,312 (GRCm39) D523V possibly damaging Het
Traf7 G T 17: 24,729,525 (GRCm39) Q469K probably benign Het
Trdmt1 C A 2: 13,549,428 (GRCm39) V6F probably damaging Het
Tsacc A T 3: 88,194,395 (GRCm39) probably benign Het
Vmn2r5 A G 3: 64,398,951 (GRCm39) I589T possibly damaging Het
Vmn2r7 T C 3: 64,598,460 (GRCm39) D699G probably damaging Het
Vmn2r82 T C 10: 79,217,129 (GRCm39) V487A probably damaging Het
Zbtb47 T C 9: 121,596,732 (GRCm39) V696A probably damaging Het
Zfp287 A T 11: 62,605,855 (GRCm39) S351T probably benign Het
Zfp654 T C 16: 64,606,051 (GRCm39) H176R possibly damaging Het
Other mutations in Bank1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACCTGCTGAATCATTTCCAGACCAC -3'
(R):5'- TGCCTGGATGAATGTCATAGGTCCC -3'

Sequencing Primer
(F):5'- GAATCATTTCCAGACCACTCTTTC -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2013-05-24