Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Blk'

346040

Institutional Source

Beutler Lab

Gene Symbol

Blk

Ensembl Gene

ENSMUSG00000014453

Gene Name

B lymphoid kinase

Synonyms

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63610285-63654486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63611652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 428 (V428I)

Ref Sequence

ENSEMBL: ENSMUSP00000014597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014597]

AlphaFold

P16277

PDB Structure

NMR ENSEMBLE OF BLK SH2 DOMAIN, 20 STRUCTURES [SOLUTION NMR]
NMR ENSEMBLE OF BLK SH2 DOMAIN USING CHEMICAL SHIFT REFINEMENT, 20 STRUCTURES [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000014597
AA Change: V428I

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

SMART Domains

Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: V428I

Domain	Start	End	E-Value	Type
SH3	55	111	2.91e-18	SMART
SH2	116	205	1.32e-32	SMART
TyrKc	235	484	1.97e-127	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224965

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,937,374 (GRCm39)	W178R	probably benign	Het
Abcb5	T	C	12: 118,896,345 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,283,599 (GRCm39)		probably benign	Het
Arid1a	A	G	4: 133,414,634 (GRCm39)	F1199S	unknown	Het
Atp4b	A	G	8: 13,439,998 (GRCm39)	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,729,443 (GRCm39)	S127P	probably damaging	Het
Ccser1	T	C	6: 61,288,568 (GRCm39)	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,173,951 (GRCm39)	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,513,579 (GRCm39)	Y173N	possibly damaging	Het
Ddr2	T	A	1: 169,829,421 (GRCm39)	I278F	probably benign	Het
Degs1	T	C	1: 182,104,388 (GRCm39)	D299G	probably damaging	Het
Dip2b	G	A	15: 100,113,210 (GRCm39)	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 50,095,248 (GRCm39)	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,016,015 (GRCm39)		probably benign	Het
Ephb6	A	G	6: 41,593,508 (GRCm39)	Y518C	probably benign	Het
Eps15l1	A	T	8: 73,127,760 (GRCm39)	F606I	possibly damaging	Het
Extl1	A	G	4: 134,098,690 (GRCm39)	S114P	probably damaging	Het
Extl1	A	C	4: 134,098,691 (GRCm39)	D113E	probably benign	Het
Fat1	T	C	8: 45,403,720 (GRCm39)	V157A	possibly damaging	Het
Fcho1	A	T	8: 72,165,124 (GRCm39)	D444E	probably benign	Het
Fgd3	T	A	13: 49,450,036 (GRCm39)	D71V	probably damaging	Het
Fgd5	T	A	6: 91,965,190 (GRCm39)	D316E	possibly damaging	Het
Gys2	A	T	6: 142,400,210 (GRCm39)	F334I	possibly damaging	Het
Ik	G	T	18: 36,886,608 (GRCm39)	R360L	possibly damaging	Het
Kazn	A	C	4: 141,845,599 (GRCm39)		probably null	Het
Kmt2d	A	T	15: 98,737,597 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,582 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,384,930 (GRCm39)	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,460,658 (GRCm39)	V428A	probably benign	Het
Lvrn	C	A	18: 46,997,832 (GRCm39)	T260K	possibly damaging	Het
Mcc	C	T	18: 44,601,488 (GRCm39)	E614K	probably damaging	Het
Msrb3	A	T	10: 120,685,902 (GRCm39)	V81D	probably damaging	Het
Muc19	C	T	15: 91,832,268 (GRCm39)		noncoding transcript	Het
Myadm	T	A	7: 3,345,916 (GRCm39)	L226*	probably null	Het
Myof	C	T	19: 37,955,547 (GRCm39)	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,327,204 (GRCm39)		probably benign	Het
Or1r1	A	G	11: 73,874,718 (GRCm39)	S239P	probably damaging	Het
Or4b1	G	T	2: 89,979,160 (GRCm39)		probably benign	Het
Or4c35	C	A	2: 89,808,350 (GRCm39)	A76D	possibly damaging	Het
Or9g10	T	A	2: 85,584,284 (GRCm39)		probably benign	Het
Pars2	T	C	4: 106,511,247 (GRCm39)	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,398,581 (GRCm39)	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,441,705 (GRCm39)	D338E	probably damaging	Het
Pik3r2	G	A	8: 71,224,780 (GRCm39)	R199*	probably null	Het
Pla2g4f	C	T	2: 120,144,467 (GRCm39)	R24Q	probably benign	Het
Pnma2	T	C	14: 67,153,681 (GRCm39)	I35T	probably benign	Het
Podn	C	A	4: 107,875,064 (GRCm39)	A568S	probably benign	Het
Pou3f1	A	T	4: 124,552,629 (GRCm39)	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Pramel34	A	T	5: 93,784,461 (GRCm39)	D137E	probably damaging	Het
Ptpn9	A	T	9: 56,929,495 (GRCm39)	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,486 (GRCm39)	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf217	T	A	10: 31,393,472 (GRCm39)	K370*	probably null	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Scaper	A	T	9: 55,563,187 (GRCm39)		probably null	Het
Sos2	T	C	12: 69,661,380 (GRCm39)		probably benign	Het
Sptbn5	C	T	2: 119,897,927 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,683,668 (GRCm39)		probably benign	Het
Syne2	C	A	12: 76,036,027 (GRCm39)	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,612,822 (GRCm39)	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,955,988 (GRCm39)	M1140K	probably benign	Het
Usp29	G	A	7: 6,966,356 (GRCm39)		probably null	Het
Wdr7	C	T	18: 63,913,016 (GRCm39)	Q946*	probably null	Het
Ythdf1	T	C	2: 180,553,975 (GRCm39)	D46G	probably damaging	Het
Zfp217	T	C	2: 169,961,670 (GRCm39)	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,577,953 (GRCm39)	I256T	probably benign	Het

Other mutations in Blk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Blk	APN	14	63,618,169 (GRCm39)	missense	probably damaging	1.00
IGL02146:Blk	APN	14	63,611,648 (GRCm39)	missense	probably damaging	1.00
IGL02684:Blk	APN	14	63,617,143 (GRCm39)	missense	probably benign	0.17
blaenka	UTSW	14	63,621,451 (GRCm39)	missense	probably damaging	1.00
BB009:Blk	UTSW	14	63,611,008 (GRCm39)	missense	possibly damaging	0.67
BB019:Blk	UTSW	14	63,611,008 (GRCm39)	missense	possibly damaging	0.67
R0254:Blk	UTSW	14	63,618,253 (GRCm39)	missense	probably benign	0.08
R0318:Blk	UTSW	14	63,611,646 (GRCm39)	missense	probably damaging	1.00
R1567:Blk	UTSW	14	63,618,178 (GRCm39)	missense	probably damaging	0.99
R1871:Blk	UTSW	14	63,613,364 (GRCm39)	missense	possibly damaging	0.72
R3719:Blk	UTSW	14	63,621,451 (GRCm39)	missense	probably damaging	1.00
R4879:Blk	UTSW	14	63,613,414 (GRCm39)	missense	probably benign
R4935:Blk	UTSW	14	63,618,711 (GRCm39)	missense	possibly damaging	0.95
R5014:Blk	UTSW	14	63,617,236 (GRCm39)	missense	probably benign	0.00
R5352:Blk	UTSW	14	63,613,420 (GRCm39)	missense	probably damaging	1.00
R5406:Blk	UTSW	14	63,618,180 (GRCm39)	missense	probably damaging	1.00
R5514:Blk	UTSW	14	63,615,930 (GRCm39)	missense	probably damaging	0.99
R5518:Blk	UTSW	14	63,615,956 (GRCm39)	missense	possibly damaging	0.56
R6289:Blk	UTSW	14	63,613,341 (GRCm39)	splice site	probably null
R6743:Blk	UTSW	14	63,622,375 (GRCm39)	missense	probably benign
R7932:Blk	UTSW	14	63,611,008 (GRCm39)	missense	possibly damaging	0.67
R8696:Blk	UTSW	14	63,618,149 (GRCm39)	critical splice donor site	probably benign
R9169:Blk	UTSW	14	63,620,130 (GRCm39)	missense	probably damaging	1.00
R9215:Blk	UTSW	14	63,610,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGTGCCAGGATCGTAGTACTAC -3'
(R):5'- AGTGTACACATCCTGCAGGC -3'

Sequencing Primer
(F):5'- CAGACTGGCCTTGAACTTGAGATC -3'
(R):5'- ATAGGGGCAGGACTCTGTG -3'

Posted On

2015-09-25