Mutagenetix > Incidental Mutation

Incidental Mutation 'BB019:Blk'

643091

Institutional Source

Beutler Lab

Gene Symbol

Blk

Ensembl Gene

ENSMUSG00000014453

Gene Name

B lymphoid kinase

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

BB019

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63610285-63654486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63611008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 445 (G445S)

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

possibly damaging
Transcript: ENSMUST00000014597
AA Change: G445S

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: G445S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fam13a	C	T	6: 58,960,873 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,960,891 (GRCm39)	R434C	probably damaging	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or10z1	T	C	1: 174,078,260 (GRCm39)	I78V	probably benign	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdh15	A	G	10: 74,481,359 (GRCm39)	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Pira2	A	T	7: 3,845,435 (GRCm39)		probably null	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptdss1	T	C	13: 67,114,496 (GRCm39)	W215R	probably damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly 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
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
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'- AGCCCTGAAGAGACCATTGG -3'
(R):5'- ACTACGATCCTGGCACCTATGTG -3'

Sequencing Primer
(F):5'- CCTGAAGAGACCATTGGTTGCTAG -3'
(R):5'- GTGACCTTCCAGGGTTACACTAG -3'

Posted On

2020-08-01