Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Matk'

503347

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

044343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81088769-81098819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81095422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 81 (W81G)

Ref Sequence

ENSEMBL: ENSMUSP00000122445 (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 damaging
Transcript: ENSMUST00000105328
AA Change: W80G

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

SMART Domains

Protein: ENSMUSP00000100965
Gene: ENSMUSG00000004933
AA Change: W80G

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 damaging
Transcript: ENSMUST00000117488
AA Change: W120G

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

SMART Domains

Protein: ENSMUSP00000113221
Gene: ENSMUSG00000004933
AA Change: W120G

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 damaging
Transcript: ENSMUST00000119547
AA Change: W80G

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

SMART Domains

Protein: ENSMUSP00000113576
Gene: ENSMUSG00000004933
AA Change: W80G

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 damaging
Transcript: ENSMUST00000120265
AA Change: W81G

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

SMART Domains

Protein: ENSMUSP00000113666
Gene: ENSMUSG00000004933
AA Change: W81G

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 damaging
Transcript: ENSMUST00000121205
AA Change: W81G

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

SMART Domains

Protein: ENSMUSP00000113043
Gene: ENSMUSG00000004933
AA Change: W81G

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 damaging
Transcript: ENSMUST00000128576
AA Change: W81G

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

SMART Domains

Protein: ENSMUSP00000122445
Gene: ENSMUSG00000004933
AA Change: W81G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130282
AA Change: W80G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114233
Gene: ENSMUSG00000004933
AA Change: W80G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148735

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably damaging	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
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
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'- GTACAGGACAAGAGCTGGTACC -3'
(R):5'- AACACACGGCCTCATCGATG -3'

Sequencing Primer
(F):5'- ACAAGAGCTGGTACCGAGCC -3'
(R):5'- ATCGATGGTGAGGTGCCCATC -3'

Posted On

2018-02-27