Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00942:Matk'

28355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Matk

Ensembl Gene

ENSMUSG00000004933

Gene Name

megakaryocyte-associated tyrosine kinase

Synonyms

HYL, CHK, Csk homologous kinase, Ntk

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00942

Quality Score

Status

Chromosome

Chromosomal Location

81088769-81098819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81094128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 20 (D20G)

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: D20G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113221
Gene: ENSMUSG00000004933
AA Change: D20G

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: ENSMUST00000148735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151660

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	C	5: 62,855,732 (GRCm39)	L568*	probably null	Het
Arfgef2	G	A	2: 166,727,773 (GRCm39)	V1574M	probably damaging	Het
Arhgef12	C	T	9: 42,893,296 (GRCm39)	R969H	probably damaging	Het
Cacng1	A	T	11: 107,595,195 (GRCm39)	F127L	probably benign	Het
Cntnap5c	T	C	17: 58,076,593 (GRCm39)	V10A	probably benign	Het
Crtac1	T	G	19: 42,312,233 (GRCm39)	D160A	probably damaging	Het
Csmd3	C	T	15: 47,710,502 (GRCm39)		probably null	Het
Grin3a	A	G	4: 49,770,589 (GRCm39)	F728L	probably damaging	Het
H3c1	T	C	13: 23,945,921 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,515,325 (GRCm39)		probably benign	Het
Iyd	C	T	10: 3,554,070 (GRCm38)	C239F	probably damaging	Het
Madd	A	G	2: 91,000,923 (GRCm39)	V486A	probably damaging	Het
Map3k7	A	G	4: 32,019,539 (GRCm39)	D533G	probably damaging	Het
Mphosph10	A	G	7: 64,039,503 (GRCm39)	S156P	probably benign	Het
Mtif2	G	A	11: 29,488,753 (GRCm39)	E356K	probably damaging	Het
Ndufb10	T	C	17: 24,943,158 (GRCm39)		probably null	Het
Nipal3	A	T	4: 135,195,904 (GRCm39)	L233Q	possibly damaging	Het
Or7e169	T	C	9: 19,757,555 (GRCm39)	Y120C	probably damaging	Het
Prss32	T	A	17: 24,078,134 (GRCm39)	C273*	probably null	Het
Prtg	T	C	9: 72,799,622 (GRCm39)	S807P	possibly damaging	Het
Ric3	T	G	7: 108,653,619 (GRCm39)	E157D	probably damaging	Het
Ric3	T	A	7: 108,653,620 (GRCm39)	E157V	probably damaging	Het
Slc16a14	G	A	1: 84,900,592 (GRCm39)	T131I	probably damaging	Het
Slc1a2	A	T	2: 102,570,159 (GRCm39)	N137Y	probably damaging	Het
Slc25a27	T	C	17: 43,974,980 (GRCm39)	I94V	probably benign	Het
Slco1a1	G	A	6: 141,892,354 (GRCm39)	T4I	probably benign	Het
Slf1	A	T	13: 77,192,066 (GRCm39)	F923I	possibly damaging	Het
Taf7l2	A	G	10: 115,949,341 (GRCm39)	S62P	possibly damaging	Het
Ttll12	A	C	15: 83,466,649 (GRCm39)	V306G	possibly damaging	Het
Tulp2	G	A	7: 45,165,692 (GRCm39)	V97I	possibly damaging	Het
Vmn2r65	T	G	7: 84,592,761 (GRCm39)	Q482P	probably damaging	Het
Wdr24	T	A	17: 26,045,595 (GRCm39)	N443K	probably benign	Het

Other mutations in Matk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3773:Matk	UTSW	10	81,094,131 (GRCm39)	missense	probably benign	0.05
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

Posted On

2013-04-17