Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Bank1'

368546

Institutional Source

Beutler Lab

Gene Symbol

Bank1

Ensembl Gene

ENSMUSG00000037922

Gene Name

B cell scaffold protein with ankyrin repeats 1

Synonyms

A530094C12Rik

MMRRC Submission

041976-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135759124-136031827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135960690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 56 (S56T)

Ref Sequence

ENSEMBL: ENSMUSP00000142996 (fasta)

Gene Model

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

AlphaFold

Q80VH0

Predicted Effect

probably benign
Transcript: ENSMUST00000041577
AA Change: S189T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: S189T

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
AA Change: S56T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: S56T

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: S56T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: S56T

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,631,584 (GRCm39)	V1231M	probably benign	Het
Agl	A	G	3: 116,580,177 (GRCm39)		probably null	Het
Ak7	T	C	12: 105,676,404 (GRCm39)	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,260,117 (GRCm39)	L1368F	probably damaging	Het
Atp5mf	T	C	5: 145,121,365 (GRCm39)	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,784,667 (GRCm39)	F317V	probably benign	Het
Cachd1	T	A	4: 100,775,282 (GRCm39)	C166S	probably damaging	Het
Cand1	A	G	10: 119,046,607 (GRCm39)	I961T	probably benign	Het
Ccdc73	G	A	2: 104,811,450 (GRCm39)		probably null	Het
Cct6b	A	T	11: 82,632,830 (GRCm39)		probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Col6a4	A	T	9: 105,957,401 (GRCm39)	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cr2	A	T	1: 194,838,243 (GRCm39)	C698S	probably damaging	Het
Dnaaf5	C	A	5: 139,170,405 (GRCm39)	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,072,057 (GRCm39)	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,370,324 (GRCm39)	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,131,679 (GRCm39)	T123S	probably damaging	Het
Edem1	T	G	6: 108,818,595 (GRCm39)	V201G	probably damaging	Het
Eef1d	C	T	15: 75,775,531 (GRCm39)	A43T	possibly damaging	Het
Elavl3	T	C	9: 21,935,974 (GRCm39)	K249E	probably damaging	Het
Epg5	G	T	18: 77,992,211 (GRCm39)	E303*	probably null	Het
Fam83h	T	C	15: 75,874,217 (GRCm39)	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,783,975 (GRCm39)	F211L	probably benign	Het
Fsip2	A	G	2: 82,812,452 (GRCm39)	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,361,983 (GRCm39)		noncoding transcript	Het
Gpr135	T	A	12: 72,116,642 (GRCm39)	D375V	probably benign	Het
Hgd	A	G	16: 37,452,187 (GRCm39)	*446W	probably null	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Htra2	A	G	6: 83,028,798 (GRCm39)	L379P	probably damaging	Het
Hypk	G	T	2: 121,288,136 (GRCm39)		probably null	Het
Ica1l	A	G	1: 60,049,360 (GRCm39)	F198L	probably damaging	Het
Igsf11	G	A	16: 38,845,226 (GRCm39)	S319N	probably damaging	Het
Il12rb1	T	C	8: 71,266,012 (GRCm39)	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,841,460 (GRCm39)	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,354,859 (GRCm39)	P530S	probably benign	Het
Kcnu1	T	C	8: 26,403,780 (GRCm39)	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,558,538 (GRCm39)	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,118,220 (GRCm39)	M12L	probably benign	Het
Klre1	T	C	6: 129,561,118 (GRCm39)	S160P	probably damaging	Het
Lama2	A	T	10: 27,343,267 (GRCm39)	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,468,203 (GRCm39)	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lsr	T	C	7: 30,657,977 (GRCm39)	T328A	probably damaging	Het
Mark4	C	T	7: 19,185,582 (GRCm39)	E51K	probably benign	Het
Mindy2	T	C	9: 70,541,283 (GRCm39)		probably null	Het
Mkks	G	A	2: 136,718,082 (GRCm39)	T400I	probably benign	Het
Mon2	T	A	10: 122,841,962 (GRCm39)	M1544L	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	T	G	9: 75,198,198 (GRCm39)	L1341R	probably damaging	Het
Nin	T	C	12: 70,090,581 (GRCm39)	R945G	possibly damaging	Het
Nox4	T	C	7: 86,954,055 (GRCm39)	V120A	probably benign	Het
Or1s2	T	A	19: 13,758,706 (GRCm39)	C243*	probably null	Het
Or2aj4	G	T	16: 19,385,413 (GRCm39)	H73Q	possibly damaging	Het
Or2z2	A	T	11: 58,346,370 (GRCm39)	V135E	possibly damaging	Het
Or4a66	C	T	2: 88,531,242 (GRCm39)	V144I	probably benign	Het
Or7g29	T	C	9: 19,287,105 (GRCm39)	E24G	probably benign	Het
Plekha2	T	A	8: 25,532,778 (GRCm39)	R398W	probably damaging	Het
Pradc1	A	G	6: 85,424,173 (GRCm39)	W58R	probably damaging	Het
Pramel20	A	G	4: 143,297,559 (GRCm39)		probably benign	Het
Prrc2b	A	G	2: 32,107,351 (GRCm39)		probably null	Het
Psg19	T	A	7: 18,528,071 (GRCm39)	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,437,746 (GRCm39)	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,807,168 (GRCm39)	S211G	probably benign	Het
Rcc1l	G	A	5: 134,192,615 (GRCm39)	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,596,040 (GRCm39)		probably null	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Selenof	T	G	3: 144,302,584 (GRCm39)	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,481,012 (GRCm39)	D108E	probably damaging	Het
Shank3	T	A	15: 89,384,557 (GRCm39)	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sirt4	T	C	5: 115,618,373 (GRCm39)	T234A	possibly damaging	Het
Slc25a30	C	A	14: 76,000,806 (GRCm39)	W266L	probably benign	Het
Spata20	A	T	11: 94,375,412 (GRCm39)	N127K	probably damaging	Het
Spmip4	G	T	6: 50,572,817 (GRCm39)	P32Q	probably damaging	Het
St14	C	T	9: 31,006,918 (GRCm39)	G636D	probably benign	Het
Stat5a	G	A	11: 100,756,289 (GRCm39)	E170K	probably damaging	Het
Sugp2	C	T	8: 70,695,440 (GRCm39)	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,734,589 (GRCm39)	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,099,874 (GRCm39)	V608A	possibly damaging	Het
Syne2	T	C	12: 75,956,018 (GRCm39)	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,889,041 (GRCm39)	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,377,062 (GRCm39)	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tmx2	G	A	2: 84,508,340 (GRCm39)	P15L	probably damaging	Het
Top1mt	C	T	15: 75,540,474 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,845,345 (GRCm39)	S1682T	probably benign	Het
Trrap	C	T	5: 144,740,087 (GRCm39)	R1171W	probably damaging	Het
Ugt3a1	A	G	15: 9,361,665 (GRCm39)	D147G	probably damaging	Het
Utp25	G	A	1: 192,810,575 (GRCm39)	H143Y	probably benign	Het
Vnn3	A	G	10: 23,740,519 (GRCm39)	H274R	probably benign	Het
Vwf	C	A	6: 125,620,326 (GRCm39)	T1668K		Het
Zfp568	T	C	7: 29,714,608 (GRCm39)	S162P	probably damaging	Het
Zfp658	T	A	7: 43,223,890 (GRCm39)	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,319,045 (GRCm39)	H91Q	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
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'- CGTGTTTTATGAAAGGCAAGCATCTG -3'
(R):5'- CATTTCCTGTACTGATGAAATTGGCC -3'

Sequencing Primer
(F):5'- GGCAAGCATCTGTTTTAAATGCC -3'
(R):5'- CTGTACTGATGAAATTGGCCTTTTAG -3'

Posted On

2016-02-04