Mutagenetix > Incidental Mutation

Incidental Mutation 'R5406:Blk'

426297

Institutional Source

Beutler Lab

Gene Symbol

Blk

Ensembl Gene

ENSMUSG00000014453

Gene Name

B lymphoid kinase

Synonyms

MMRRC Submission

042976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63610285-63654486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63618180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 242 (G242V)

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 damaging
Transcript: ENSMUST00000014597
AA Change: G242V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: G242V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,387 (GRCm39)	V17D	probably damaging	Het
Abcb1a	C	A	5: 8,752,946 (GRCm39)	Q566K	probably damaging	Het
Adam26a	A	T	8: 44,022,141 (GRCm39)	C450S	probably damaging	Het
Adar	C	T	3: 89,643,418 (GRCm39)	P433L	probably damaging	Het
Aldh1a2	G	T	9: 71,162,403 (GRCm39)	A151S	possibly damaging	Het
Arsk	T	A	13: 76,242,066 (GRCm39)	H69L	probably benign	Het
Atf6b	T	A	17: 34,872,771 (GRCm39)	Y600*	probably null	Het
Bmt2	A	T	6: 13,677,831 (GRCm39)	M1K	probably null	Het
Catsperg1	G	A	7: 28,884,948 (GRCm39)	T891M	probably damaging	Het
Ccdc32	A	C	2: 118,852,560 (GRCm39)	S131A	possibly damaging	Het
Cdh8	A	G	8: 99,923,002 (GRCm39)	V298A	probably damaging	Het
Cfap54	T	A	10: 92,837,720 (GRCm39)	Q1060L	probably benign	Het
Cfap58	G	A	19: 48,017,541 (GRCm39)	M800I	possibly damaging	Het
Cntn5	A	T	9: 9,833,465 (GRCm39)	V362D	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
G2e3	T	C	12: 51,419,449 (GRCm39)	S699P	probably damaging	Het
Gbp4	G	T	5: 105,267,387 (GRCm39)	Q511K	possibly damaging	Het
Gdap2	T	A	3: 100,098,991 (GRCm39)	I361N	probably damaging	Het
Ino80c	T	A	18: 24,245,819 (GRCm39)	H92L	probably benign	Het
Lipo4	A	G	19: 33,480,618 (GRCm39)	V250A	probably benign	Het
Llgl1	C	T	11: 60,604,010 (GRCm39)	R1055W	probably damaging	Het
Lrriq3	T	C	3: 154,835,138 (GRCm39)		probably null	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Ncstn	A	G	1: 171,899,731 (GRCm39)	V317A	probably benign	Het
Nfxl1	G	A	5: 72,713,541 (GRCm39)	T134I	possibly damaging	Het
Nup155	A	T	15: 8,183,122 (GRCm39)		probably null	Het
Nup214	C	A	2: 31,892,619 (GRCm39)	P680T	probably damaging	Het
Or6c212	G	A	10: 129,558,799 (GRCm39)	L205F	probably damaging	Het
Or7h8	A	G	9: 20,124,454 (GRCm39)	K270E	probably benign	Het
Or8b12	A	G	9: 37,657,943 (GRCm39)	N171S	probably benign	Het
Or8b9	G	A	9: 37,766,515 (GRCm39)	V134I	probably benign	Het
Pkd2	T	C	5: 104,628,198 (GRCm39)	F424S	probably damaging	Het
Plb1	A	G	5: 32,499,259 (GRCm39)	D1074G	probably damaging	Het
Ppm1l	T	C	3: 69,224,927 (GRCm39)	S10P	possibly damaging	Het
Rnf213	A	G	11: 119,331,634 (GRCm39)	H2281R	probably damaging	Het
Rpa2	G	T	4: 132,503,559 (GRCm39)	A3S	probably benign	Het
Sardh	A	G	2: 27,101,096 (GRCm39)	V698A	possibly damaging	Het
Saxo2	A	T	7: 82,284,586 (GRCm39)	C91S	probably benign	Het
Slc3a2	T	C	19: 8,685,406 (GRCm39)	D198G	probably damaging	Het
Spata31d1d	T	A	13: 59,876,592 (GRCm39)	E314D	probably benign	Het
Sptlc3	T	C	2: 139,388,398 (GRCm39)	V130A	probably benign	Het
Stpg3	C	A	2: 25,103,580 (GRCm39)	E115*	probably null	Het
Tbcd	T	A	11: 121,342,927 (GRCm39)	D19E	probably benign	Het
Xrcc3	T	C	12: 111,778,545 (GRCm39)	D2G	probably damaging	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
R4606:Blk	UTSW	14	63,611,652 (GRCm39)	missense	probably benign	0.00
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
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'- ATGTGAATCCCTTGGCATCTG -3'
(R):5'- AGGACAGTGTGGTTCTTAAGGC -3'

Sequencing Primer
(F):5'- GGCATCTGGGCTTTATAAACTC -3'
(R):5'- TTAAGGCACATCTGCTCTAGGGAC -3'

Posted On

2016-09-01