Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Matk'

273445

Institutional Source

Beutler Lab

Gene Symbol

Matk

Ensembl Gene

ENSMUSG00000004933

Gene Name

megakaryocyte-associated tyrosine kinase

Synonyms

HYL, CHK, Csk homologous kinase, Ntk

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3773 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

81088769-81098819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81094131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 21 (L21Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105328] [ENSMUST00000117488] [ENSMUST00000119547] [ENSMUST00000120265] [ENSMUST00000121205] [ENSMUST00000128576] [ENSMUST00000130282]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000105328

SMART Domains

Protein: ENSMUSP00000100965
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	9	67	1.37e-5	SMART
SH2	78	160	4.87e-31	SMART
TyrKc	193	436	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117488
AA Change: L21Q

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113221
Gene: ENSMUSG00000004933
AA Change: L21Q

Domain	Start	End	E-Value	Type
SH3	49	107	1.37e-5	SMART
SH2	118	200	4.87e-31	SMART
TyrKc	233	476	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119547

SMART Domains

Protein: ENSMUSP00000113576
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	9	67	1.37e-5	SMART
SH2	78	160	4.87e-31	SMART
TyrKc	193	436	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120265

SMART Domains

Protein: ENSMUSP00000113666
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	10	68	1.37e-5	SMART
SH2	79	161	4.87e-31	SMART
TyrKc	194	437	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121205

SMART Domains

Protein: ENSMUSP00000113043
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	10	68	1.37e-5	SMART
SH2	79	161	4.87e-31	SMART
TyrKc	194	437	2.88e-129	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126720

Predicted Effect

probably benign
Transcript: ENSMUST00000128576

SMART Domains

Protein: ENSMUSP00000122445
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	10	68	1.37e-5	SMART
SH2	79	161	1.55e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148735

Predicted Effect

probably benign
Transcript: ENSMUST00000130282

SMART Domains

Protein: ENSMUSP00000114233
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	9	67	1.37e-5	SMART
PDB:1JWO\|A	75	101	1e-12	PDB
Blast:SH2	78	101	1e-9	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice are viable and fertile and appear normal. Unchallenged mutant mice exhibit no hematopoietic defects. SPKLS cell numbers are elevated. IL-7 induced BM cell proliferation and pre-B cell colony formation are enhanced. Antigen induced IFN-gamma secretion is reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,532,046 (GRCm39)	K899N	probably benign	Het
Acsbg3	T	C	17: 57,183,262 (GRCm39)	M1T	probably null	Het
Adgrv1	G	A	13: 81,647,162 (GRCm39)	S3126L	probably damaging	Het
Apba3	C	A	10: 81,108,443 (GRCm39)		probably null	Het
Apobec4	G	T	1: 152,632,556 (GRCm39)	A195S	probably benign	Het
Asap3	C	T	4: 135,954,886 (GRCm39)	T72I	probably benign	Het
Cand2	T	A	6: 115,762,178 (GRCm39)	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,103,180 (GRCm39)	K19E	probably benign	Het
Cspg4b	A	G	13: 113,454,743 (GRCm39)	E263G	probably benign	Het
Cyp17a1	T	G	19: 46,658,162 (GRCm39)	K250T	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,074,639 (GRCm39)	D712G	probably damaging	Het
Dsg2	T	C	18: 20,724,919 (GRCm39)	W442R	probably damaging	Het
Elavl2	C	T	4: 91,152,325 (GRCm39)	G131R	probably damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,989,264 (GRCm39)	D270G	probably damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Fry	A	T	5: 150,321,663 (GRCm39)	R999S	probably damaging	Het
Gak	G	A	5: 108,730,538 (GRCm39)	T956I	probably benign	Het
Gps2	T	C	11: 69,806,927 (GRCm39)	F21L	probably damaging	Het
Grhl3	C	T	4: 135,283,158 (GRCm39)	W303*	probably null	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Mthfr	T	C	4: 148,128,907 (GRCm39)	V160A	probably benign	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Or1j16	A	T	2: 36,530,333 (GRCm39)	Y94F	probably benign	Het
Or2h2	G	T	17: 37,396,957 (GRCm39)	Y33*	probably null	Het
Or7a41	G	A	10: 78,871,014 (GRCm39)	C128Y	possibly damaging	Het
Or9q2	T	A	19: 13,772,568 (GRCm39)	M136L	probably benign	Het
Pcdhb15	T	A	18: 37,608,943 (GRCm39)	V725D	probably benign	Het
Pes1	A	G	11: 3,925,548 (GRCm39)	Y221C	probably damaging	Het
Prkd3	T	C	17: 79,266,535 (GRCm39)	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,624,987 (GRCm39)	E97G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rims1	T	C	1: 22,492,034 (GRCm39)	D842G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf26rt	C	T	6: 76,473,942 (GRCm39)	V225I	probably benign	Het
Rngtt	T	C	4: 33,330,889 (GRCm39)	I164T	probably damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Slco1a8	T	C	6: 141,918,061 (GRCm39)	K605R	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Stxbp5	G	A	10: 9,644,671 (GRCm39)	T960I	probably damaging	Het
Suco	A	T	1: 161,671,565 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,805,893 (GRCm39)	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,539,363 (GRCm39)	*254W	probably null	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Upb1	T	A	10: 75,275,672 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,351 (GRCm39)	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	T	C	15: 88,665,050 (GRCm39)	S373P	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp423	A	T	8: 88,507,140 (GRCm39)	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	Het

Other mutations in Matk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Matk	APN	10	81,094,128 (GRCm39)	missense	probably benign
R0153:Matk	UTSW	10	81,098,676 (GRCm39)	missense	probably benign	0.01
R0243:Matk	UTSW	10	81,094,326 (GRCm39)	missense	probably benign	0.03
R0349:Matk	UTSW	10	81,094,328 (GRCm39)	missense	probably benign
R0462:Matk	UTSW	10	81,095,527 (GRCm39)	missense	probably damaging	1.00
R0562:Matk	UTSW	10	81,095,525 (GRCm39)	missense	probably benign	0.26
R0732:Matk	UTSW	10	81,094,140 (GRCm39)	critical splice donor site	probably null
R2356:Matk	UTSW	10	81,097,377 (GRCm39)	critical splice donor site	probably null
R4420:Matk	UTSW	10	81,098,291 (GRCm39)	missense	possibly damaging	0.63
R4855:Matk	UTSW	10	81,098,720 (GRCm39)	unclassified	probably benign
R5873:Matk	UTSW	10	81,095,963 (GRCm39)	missense	probably benign	0.10
R5906:Matk	UTSW	10	81,096,753 (GRCm39)	missense	probably damaging	1.00
R6209:Matk	UTSW	10	81,095,422 (GRCm39)	missense	probably damaging	1.00
R8308:Matk	UTSW	10	81,094,121 (GRCm39)	missense	probably benign	0.03
R8462:Matk	UTSW	10	81,097,859 (GRCm39)	missense	probably damaging	1.00
R8558:Matk	UTSW	10	81,096,765 (GRCm39)	missense	probably benign	0.00
R8782:Matk	UTSW	10	81,098,294 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTCAGATTCCCAGGAATGAC -3'
(R):5'- CTGTGAAGGAAGGCAGTGTC -3'

Sequencing Primer
(F):5'- ACCTTGAGTCACGGCCC -3'
(R):5'- AAGGCAGTGTCATGCTGG -3'

Posted On

2015-03-25