Mutagenetix > Incidental Mutation

Incidental Mutation 'R4911:Bank1'

379488

Institutional Source

Beutler Lab

Gene Symbol

Bank1

Ensembl Gene

ENSMUSG00000037922

Gene Name

B cell scaffold protein with ankyrin repeats 1

Synonyms

A530094C12Rik

MMRRC Submission

042513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135759124-136031827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135990004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 29 (I29V)

Ref Sequence

ENSEMBL: ENSMUSP00000035484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041577] [ENSMUST00000196159] [ENSMUST00000198206]

AlphaFold

Q80VH0

Predicted Effect

probably benign
Transcript: ENSMUST00000041577
AA Change: I29V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: I29V

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 benign
Transcript: ENSMUST00000196159

SMART Domains

Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922

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

SMART Domains

Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922

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

Meta Mutation Damage Score

0.1008

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (149/153)

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: 132 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,583,224 (GRCm39)	D260G	possibly damaging	Het
Aadacl4	T	A	4: 144,340,362 (GRCm39)	L29H	probably damaging	Het
Abca7	T	C	10: 79,848,022 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,754,832 (GRCm39)	M643I	possibly damaging	Het
Adgrl2	A	T	3: 148,596,099 (GRCm39)	M79K	probably damaging	Het
Ankrd55	T	A	13: 112,459,573 (GRCm39)		probably null	Het
Aopep	A	T	13: 63,318,753 (GRCm39)		probably null	Het
Arhgap21	A	G	2: 20,863,800 (GRCm39)	I1257T	probably damaging	Het
Arhgap26	T	A	18: 39,126,690 (GRCm39)		probably benign	Het
Arhgap39	A	G	15: 76,622,005 (GRCm39)	S199P	probably damaging	Het
Arhgef5	A	G	6: 43,249,762 (GRCm39)	D171G	probably benign	Het
Atp7a	T	C	X: 105,163,980 (GRCm39)	V1305A	probably damaging	Het
B3gnt3	T	A	8: 72,145,578 (GRCm39)	R263S	probably benign	Het
B9d1	A	C	11: 61,398,497 (GRCm39)	D59A	probably benign	Het
Bag2	A	T	1: 33,787,357 (GRCm39)	I55N	probably benign	Het
Bbs2	A	T	8: 94,815,743 (GRCm39)	D174E	probably damaging	Het
Bmp8b	T	C	4: 123,009,030 (GRCm39)	W203R	probably damaging	Het
Cacnb2	A	T	2: 14,986,151 (GRCm39)	E359D	possibly damaging	Het
Camp	T	A	9: 109,676,651 (GRCm39)		probably null	Het
Casp4	C	T	9: 5,328,580 (GRCm39)		probably benign	Het
Ccdc110	A	T	8: 46,395,944 (GRCm39)	T612S	probably benign	Het
Cd209b	T	A	8: 3,976,640 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,632,461 (GRCm39)	D367G	probably damaging	Het
Cers5	T	A	15: 99,644,960 (GRCm39)	N131I	probably damaging	Het
Cfhr4	T	G	1: 139,702,301 (GRCm39)	D61A	probably damaging	Het
Chd5	T	G	4: 152,445,129 (GRCm39)	V370G	probably damaging	Het
Cipc	C	A	12: 86,999,531 (GRCm39)	Q20K	probably benign	Het
Cnr2	T	A	4: 135,644,512 (GRCm39)	F197I	possibly damaging	Het
Col7a1	G	A	9: 108,804,287 (GRCm39)	G2233S	unknown	Het
Dcdc2b	T	A	4: 129,505,060 (GRCm39)	I125F	possibly damaging	Het
Ddi2	A	G	4: 141,411,713 (GRCm39)	S400P	probably benign	Het
Ddx31	C	A	2: 28,794,696 (GRCm39)	T664K	probably benign	Het
Dhx30	C	A	9: 109,929,992 (GRCm39)	G35C	probably damaging	Het
Dmxl2	G	A	9: 54,318,937 (GRCm39)	T1576I	probably damaging	Het
Dnah1	T	C	14: 31,017,280 (GRCm39)	Y1510C	probably damaging	Het
Dnah2	C	T	11: 69,389,930 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,583,953 (GRCm39)	G163C	probably damaging	Het
Edar	T	C	10: 58,457,146 (GRCm39)	N144S	probably benign	Het
Elavl2	T	A	4: 91,196,915 (GRCm39)	E54D	possibly damaging	Het
Enam	T	G	5: 88,650,173 (GRCm39)	S561A	probably benign	Het
Ercc5	C	A	1: 44,206,031 (GRCm39)	H315N	possibly damaging	Het
Esp31	A	G	17: 38,955,552 (GRCm39)	E65G	possibly damaging	Het
Faap100	T	C	11: 120,262,939 (GRCm39)	I806M	probably benign	Het
Fbxw21	T	C	9: 108,974,731 (GRCm39)	Y263C	probably damaging	Het
Fsip2	T	A	2: 82,811,837 (GRCm39)	S2719T	possibly damaging	Het
Fv1	T	C	4: 147,953,875 (GRCm39)	V147A	probably benign	Het
Gal	T	C	19: 3,461,590 (GRCm39)	E65G	probably benign	Het
Galnt2l	A	G	8: 123,807,343 (GRCm39)		probably benign	Het
Galnt6	T	C	15: 100,614,059 (GRCm39)	T81A	probably benign	Het
Gcc2	A	G	10: 58,106,261 (GRCm39)	E399G	probably damaging	Het
Gfi1b	A	T	2: 28,500,114 (GRCm39)	C306S	probably damaging	Het
Gm10654	T	A	8: 71,384,496 (GRCm39)		noncoding transcript	Het
Gm4953	T	A	1: 158,995,929 (GRCm39)		noncoding transcript	Het
Gorasp2	T	C	2: 70,518,683 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,295,205 (GRCm39)		probably benign	Het
H2-D1	A	G	17: 35,484,973 (GRCm39)	E278G	probably damaging	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Hgs	T	A	11: 120,368,028 (GRCm39)	S246T	probably damaging	Het
Hs2st1	T	C	3: 144,170,843 (GRCm39)	T110A	probably benign	Het
Hydin	A	G	8: 111,322,070 (GRCm39)	Y4574C	probably benign	Het
Ighv1-23	C	A	12: 114,728,372 (GRCm39)	V17F	possibly damaging	Het
Ighv8-14	A	T	12: 115,772,185 (GRCm39)		noncoding transcript	Het
Igsf21	C	T	4: 139,761,934 (GRCm39)	R248H	probably benign	Het
Il22b	T	C	10: 118,130,894 (GRCm39)	M1V	probably null	Het
Il23r	T	C	6: 67,400,545 (GRCm39)	N595S	probably benign	Het
Il5ra	G	T	6: 106,692,629 (GRCm39)	P372Q	probably damaging	Het
Inppl1	A	G	7: 101,481,516 (GRCm39)	V222A	possibly damaging	Het
Ints10	T	C	8: 69,279,964 (GRCm39)	V697A	probably damaging	Het
Isg15	T	A	4: 156,284,217 (GRCm39)	T104S	probably benign	Het
Kif11	A	G	19: 37,406,385 (GRCm39)	T983A	probably benign	Het
Kif3b	A	T	2: 153,159,212 (GRCm39)	K338*	probably null	Het
Kpna2	T	A	11: 106,881,545 (GRCm39)	I362F	probably damaging	Het
Lama2	G	A	10: 27,014,923 (GRCm39)	T1595M	probably damaging	Het
Lrrc36	A	G	8: 106,153,567 (GRCm39)	T126A	probably benign	Het
Lrrk1	T	A	7: 65,945,202 (GRCm39)	D604V	probably damaging	Het
Map7d1	T	C	4: 126,130,484 (GRCm39)	K409E	probably damaging	Het
Mast2	T	C	4: 116,210,254 (GRCm39)	T110A	probably benign	Het
Micall2	G	A	5: 139,702,580 (GRCm39)	T221M	probably damaging	Het
Morc2b	T	A	17: 33,356,351 (GRCm39)	N474Y	probably damaging	Het
Myo1e	T	A	9: 70,250,378 (GRCm39)	M528K	probably benign	Het
Nlrp1c-ps	G	T	11: 71,151,195 (GRCm39)		noncoding transcript	Het
Nostrin	T	C	2: 68,991,486 (GRCm39)	S160P	possibly damaging	Het
Nup133	T	C	8: 124,653,870 (GRCm39)	R530G	possibly damaging	Het
Or2f2	T	A	6: 42,767,138 (GRCm39)	L55H	probably damaging	Het
Or5p64	T	C	7: 107,855,244 (GRCm39)	I34V	possibly damaging	Het
Or8c16	A	G	9: 38,130,392 (GRCm39)	E91G	probably damaging	Het
Pabpc4l	A	T	3: 46,400,597 (GRCm39)	M349K	possibly damaging	Het
Pah	G	A	10: 87,406,129 (GRCm39)	G256S	probably benign	Het
Pigk	T	C	3: 152,445,841 (GRCm39)	S151P	probably damaging	Het
Plcd4	A	C	1: 74,603,572 (GRCm39)	T658P	possibly damaging	Het
Pld4	A	T	12: 112,730,951 (GRCm39)	S178C	probably benign	Het
Polr1a	G	A	6: 71,886,213 (GRCm39)	E23K	possibly damaging	Het
Pomt1	T	C	2: 32,131,691 (GRCm39)	S127P	probably damaging	Het
Pon2	A	G	6: 5,269,029 (GRCm39)	V215A	possibly damaging	Het
Ppp3cb	A	T	14: 20,559,508 (GRCm39)	M416K	probably damaging	Het
Prdm1	A	T	10: 44,318,048 (GRCm39)	N273K	possibly damaging	Het
Prg4	T	A	1: 150,331,574 (GRCm39)		probably benign	Het
Prkn	G	T	17: 11,059,359 (GRCm39)		probably benign	Het
Ptch1	G	A	13: 63,670,866 (GRCm39)	T888M	probably damaging	Het
Pusl1	T	G	4: 155,975,899 (GRCm39)		probably benign	Het
Rapgef6	A	T	11: 54,513,143 (GRCm39)	E122D	probably damaging	Het
Rif1	C	T	2: 52,000,530 (GRCm39)	T1328I	probably damaging	Het
Rngtt	T	G	4: 33,500,292 (GRCm39)		probably null	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd1	A	G	8: 84,725,618 (GRCm39)		probably benign	Het
Scamp5	A	T	9: 57,358,735 (GRCm39)	F14I	probably damaging	Het
Shank3	C	T	15: 89,388,547 (GRCm39)	R380C	probably damaging	Het
Shisal2a	T	C	4: 108,234,658 (GRCm39)	T70A	probably benign	Het
Slc1a4	C	A	11: 20,282,166 (GRCm39)	A103S	probably damaging	Het
Slc39a14	A	G	14: 70,547,371 (GRCm39)	V325A	probably benign	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Spata6l	G	A	19: 28,874,903 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,013,213 (GRCm39)	S375T	probably damaging	Het
Sval1	A	G	6: 41,932,378 (GRCm39)	N76S	probably benign	Het
Synpo	C	T	18: 60,762,936 (GRCm39)		probably benign	Het
Sytl5	C	T	X: 9,781,841 (GRCm39)	P181L	possibly damaging	Het
Tacc1	A	G	8: 25,672,622 (GRCm39)	M111T	possibly damaging	Het
Tec	T	C	5: 72,913,694 (GRCm39)	D613G	probably benign	Het
Tecpr2	C	T	12: 110,897,921 (GRCm39)	T391I	possibly damaging	Het
Thop1	G	A	10: 80,909,125 (GRCm39)	G52D	probably damaging	Het
Tmco5	T	A	2: 116,722,689 (GRCm39)	V270D	possibly damaging	Het
Ttn	C	T	2: 76,556,973 (GRCm39)	E28265K	possibly damaging	Het
Tuft1	T	C	3: 94,542,750 (GRCm39)	D72G	probably damaging	Het
Tyrp1	C	T	4: 80,769,144 (GRCm39)		probably benign	Het
Usp9y	T	C	Y: 1,308,041 (GRCm39)	D2265G	probably damaging	Het
Vmn2r104	G	A	17: 20,250,288 (GRCm39)	A661V	probably benign	Het
Vwa5a	A	T	9: 38,649,268 (GRCm39)	N672I	probably benign	Het
Wdr95	A	T	5: 149,535,157 (GRCm39)	K772*	probably null	Het
Ybx1	T	C	4: 119,140,010 (GRCm39)	T106A	probably benign	Het
Ypel3	T	C	7: 126,376,961 (GRCm39)	S14P	probably benign	Het
Zfp518a	T	A	19: 40,903,972 (GRCm39)	S1300R	probably benign	Het
Zscan5b	A	T	7: 6,242,189 (GRCm39)	*469Y	probably null	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
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'- ACTTCTTTGGCGTCAGGTC -3'
(R):5'- TCTAGCAGCGTGTGGACTTG -3'

Sequencing Primer
(F):5'- GGCGTCAGGTCTTTAAGTAGAC -3'
(R):5'- CGTGTGGACTTGATTATTTCTTACC -3'

Posted On

2016-04-15