Mutagenetix > Incidental Mutation

Incidental Mutation 'R6861:Bank1'

535503

Institutional Source

Beutler Lab

Gene Symbol

Bank1

Ensembl Gene

ENSMUSG00000037922

Gene Name

B cell scaffold protein with ankyrin repeats 1

Synonyms

A530094C12Rik

MMRRC Submission

044962-MU

Accession Numbers

Essential gene?

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

Stock #

R6861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135759124-136031827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135960764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 31 (V31A)

Ref Sequence

ENSEMBL: ENSMUSP00000142366 (fasta)

Gene Model

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

AlphaFold

Q80VH0

Predicted Effect

probably benign
Transcript: ENSMUST00000041577
AA Change: V164A

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: V164A

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: V31A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: V31A

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: V31A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: V31A

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: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	A	3: 95,588,194 (GRCm39)	R598C	probably damaging	Het
Adra2a	T	C	19: 54,034,818 (GRCm39)	L58P	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Alox5ap	A	G	5: 149,201,927 (GRCm39)	D2G	probably damaging	Het
Arid1b	G	A	17: 5,377,961 (GRCm39)	V1238M	possibly damaging	Het
Bptf	G	A	11: 106,953,391 (GRCm39)	T2117M	probably damaging	Het
Cadps	G	A	14: 12,522,401 (GRCm38)	R588*	probably null	Het
Cavin4	A	G	4: 48,672,214 (GRCm39)	I220V	probably benign	Het
Cep192	G	A	18: 67,974,699 (GRCm39)	M1267I	probably benign	Het
Cers5	G	A	15: 99,670,244 (GRCm39)		probably benign	Het
Cfap65	A	T	1: 74,964,274 (GRCm39)	I558N	probably damaging	Het
Cfh	A	T	1: 140,028,621 (GRCm39)	S1025T	probably benign	Het
Cftr	A	G	6: 18,268,107 (GRCm39)	I689V	probably benign	Het
Cgrrf1	T	C	14: 47,069,785 (GRCm39)	I18T	probably damaging	Het
CK137956	A	G	4: 127,864,519 (GRCm39)	S37P	probably damaging	Het
Clca4a	T	C	3: 144,676,416 (GRCm39)	D88G	probably benign	Het
Col11a1	G	A	3: 113,961,141 (GRCm39)	G1166D	probably damaging	Het
Col24a1	G	A	3: 145,166,589 (GRCm39)	G1075S	probably damaging	Het
Crispld2	C	T	8: 120,752,852 (GRCm39)	T299M	probably damaging	Het
Cyb561a3	T	A	19: 10,562,701 (GRCm39)	Y114N	probably damaging	Het
Cyp3a57	T	A	5: 145,307,773 (GRCm39)	W147R	possibly damaging	Het
Dnah2	C	A	11: 69,346,789 (GRCm39)	R2599L	possibly damaging	Het
Dock1	T	A	7: 134,373,207 (GRCm39)	S525T	probably benign	Het
Drc7	T	G	8: 95,789,025 (GRCm39)		probably null	Het
Efhd2	G	T	4: 141,587,192 (GRCm39)		probably null	Het
Epb41l1	A	T	2: 156,367,142 (GRCm39)	E658D	probably benign	Het
Evi5	C	T	5: 107,896,184 (GRCm39)	S753N	probably benign	Het
Exoc3	A	T	13: 74,337,319 (GRCm39)	D427E	probably benign	Het
Fbxw9	A	G	8: 85,792,740 (GRCm39)	D363G	probably damaging	Het
Fcer2a	T	C	8: 3,732,910 (GRCm39)	Y277C	probably damaging	Het
Fstl5	A	T	3: 76,229,523 (GRCm39)	Y108F	probably damaging	Het
Gcn1	A	G	5: 115,749,108 (GRCm39)	D1880G	probably benign	Het
Gm4924	T	A	10: 82,214,948 (GRCm39)	Y915*	probably null	Het
Gpr139	T	A	7: 118,743,875 (GRCm39)	I237F	probably benign	Het
Hao2	A	G	3: 98,784,498 (GRCm39)	L289S	probably damaging	Het
Hexim1	A	G	11: 103,007,793 (GRCm39)	S16G	probably benign	Het
Hmgcs1	T	A	13: 120,161,535 (GRCm39)	M109K	probably damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Hsd3b5	T	A	3: 98,529,328 (GRCm39)	N101Y	probably damaging	Het
Idh2	G	A	7: 79,747,966 (GRCm39)	P245S	probably damaging	Het
Irx3	A	G	8: 92,525,530 (GRCm39)		probably benign	Het
Lilra5	A	T	7: 4,244,931 (GRCm39)	D234V	probably benign	Het
Lrfn5	G	A	12: 61,886,476 (GRCm39)	S88N	probably damaging	Het
Lrp2	A	T	2: 69,343,721 (GRCm39)	S879R	possibly damaging	Het
Lsm11	A	G	11: 45,824,781 (GRCm39)	S249P	probably benign	Het
Ltbp1	C	T	17: 75,534,187 (GRCm39)	A543V	possibly damaging	Het
Mbd1	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,645 (GRCm39)			Het
Mier2	C	T	10: 79,376,990 (GRCm39)		probably benign	Het
Mup6	G	C	4: 60,004,093 (GRCm39)	G70A	probably benign	Het
Neb	A	G	2: 52,085,732 (GRCm39)	L5258P	probably damaging	Het
Nlrc5	G	A	8: 95,247,857 (GRCm39)		probably benign	Het
Nr6a1	A	T	2: 38,630,597 (GRCm39)	F207I	possibly damaging	Het
Or2y1	A	T	11: 49,385,632 (GRCm39)	T91S	probably benign	Het
Or5k17	A	T	16: 58,746,867 (GRCm39)	D22E	probably benign	Het
Or8b43	T	C	9: 38,360,731 (GRCm39)	C188R	probably damaging	Het
Osbp2	A	G	11: 3,665,191 (GRCm39)	V51A	possibly damaging	Het
Papln	G	T	12: 83,821,723 (GRCm39)	C317F	probably damaging	Het
Pdcd7	T	C	9: 65,265,904 (GRCm39)	S454P	probably damaging	Het
Pde4a	C	T	9: 21,116,597 (GRCm39)	T473I	probably damaging	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,385 (GRCm39)	S279*	probably null	Het
Rbl1	A	G	2: 156,994,887 (GRCm39)	Y929H	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sall3	C	A	18: 81,017,590 (GRCm39)	E113*	probably null	Het
Scn5a	A	C	9: 119,359,089 (GRCm39)	F653V	probably damaging	Het
Selenok	T	A	14: 29,692,005 (GRCm39)	N14K	possibly damaging	Het
Slc22a20	T	C	19: 6,021,838 (GRCm39)	T426A	probably benign	Het
Slc4a2	T	A	5: 24,640,007 (GRCm39)	S563T	probably damaging	Het
Sspo	T	A	6: 48,464,889 (GRCm39)	S3798T	probably benign	Het
Stag3	G	T	5: 138,302,969 (GRCm39)	R63L	possibly damaging	Het
Stard9	A	T	2: 120,535,667 (GRCm39)	M3975L	probably benign	Het
Syne2	C	A	12: 75,956,040 (GRCm39)	T582K	probably damaging	Het
Synj1	G	A	16: 90,760,768 (GRCm39)	Q748*	probably null	Het
Tas2r109	T	C	6: 132,957,048 (GRCm39)	D294G	probably benign	Het
Tbl1xr1	C	T	3: 22,245,603 (GRCm39)	T203M	possibly damaging	Het
Tbl1xr1	T	A	3: 22,245,703 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,730,955 (GRCm39)	D19G	probably damaging	Het
Tecta	A	G	9: 42,248,633 (GRCm39)	V1923A	possibly damaging	Het
Tg	T	A	15: 66,560,740 (GRCm39)	M1034K	probably benign	Het
Ttf2	T	C	3: 100,876,941 (GRCm39)	E8G	possibly damaging	Het
Vps13b	T	A	15: 35,576,541 (GRCm39)	V983E	probably damaging	Het
Vps35l	A	G	7: 118,342,898 (GRCm39)	H32R	probably damaging	Het
Vwa2	T	C	19: 56,890,025 (GRCm39)	V210A	probably benign	Het
Xkr6	T	A	14: 64,057,093 (GRCm39)	Y335N	probably benign	Het
Zfp97	A	G	17: 17,365,437 (GRCm39)	H312R	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
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
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'- GTCTATGAAAACAACAGGGCC -3'
(R):5'- GTGAACATTTGACAAGCTGATGAAC -3'

Sequencing Primer
(F):5'- TATGAAAACAACAGGGCCCTTAAAG -3'
(R):5'- CCAAGATTCATTTCCTGTACTG -3'

Posted On

2018-09-12