Incidental Mutation 'IGL00942:Matk'
ID28355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matk
Ensembl Gene ENSMUSG00000004933
Gene Namemegakaryocyte-associated tyrosine kinase
SynonymsCHK, Csk homologous kinase, Ntk, HYL
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00942
Quality Score
Status
Chromosome10
Chromosomal Location81252935-81263365 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81258294 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000105328
SMART Domains Protein: ENSMUSP00000100965
Gene: ENSMUSG00000004933

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SH3 10 68 1.37e-5 SMART
SH2 79 161 1.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130282
SMART Domains Protein: ENSMUSP00000114233
Gene: ENSMUSG00000004933

DomainStartEndE-ValueType
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: ENSMUST00000148735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151660
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,436 S62P possibly damaging Het
Arap2 A C 5: 62,698,389 L568* probably null Het
Arfgef2 G A 2: 166,885,853 V1574M probably damaging Het
Arhgef12 C T 9: 42,982,000 R969H probably damaging Het
Cacng1 A T 11: 107,704,369 F127L probably benign Het
Cntnap5c T C 17: 57,769,598 V10A probably benign Het
Crtac1 T G 19: 42,323,794 D160A probably damaging Het
Csmd3 C T 15: 47,847,106 probably null Het
Grin3a A G 4: 49,770,589 F728L probably damaging Het
Hecw1 C T 13: 14,340,740 probably benign Het
Hist1h3a T C 13: 23,761,938 probably benign Het
Iyd C T 10: 3,554,070 C239F probably damaging Het
Madd A G 2: 91,170,578 V486A probably damaging Het
Map3k7 A G 4: 32,019,539 D533G probably damaging Het
Mphosph10 A G 7: 64,389,755 S156P probably benign Het
Mtif2 G A 11: 29,538,753 E356K probably damaging Het
Ndufb10 T C 17: 24,724,184 probably null Het
Nipal3 A T 4: 135,468,593 L233Q possibly damaging Het
Olfr860 T C 9: 19,846,259 Y120C probably damaging Het
Prss32 T A 17: 23,859,160 C273* probably null Het
Prtg T C 9: 72,892,340 S807P possibly damaging Het
Ric3 T G 7: 109,054,412 E157D probably damaging Het
Ric3 T A 7: 109,054,413 E157V probably damaging Het
Slc16a14 G A 1: 84,922,871 T131I probably damaging Het
Slc1a2 A T 2: 102,739,814 N137Y probably damaging Het
Slc25a27 T C 17: 43,664,089 I94V probably benign Het
Slco1a1 G A 6: 141,946,628 T4I probably benign Het
Slf1 A T 13: 77,043,947 F923I possibly damaging Het
Ttll12 A C 15: 83,582,448 V306G possibly damaging Het
Tulp2 G A 7: 45,516,268 V97I possibly damaging Het
Vmn2r65 T G 7: 84,943,553 Q482P probably damaging Het
Wdr24 T A 17: 25,826,621 N443K probably benign Het
Other mutations in Matk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0153:Matk UTSW 10 81262842 missense probably benign 0.01
R0243:Matk UTSW 10 81258492 missense probably benign 0.03
R0349:Matk UTSW 10 81258494 missense probably benign
R0462:Matk UTSW 10 81259693 missense probably damaging 1.00
R0562:Matk UTSW 10 81259691 missense probably benign 0.26
R0732:Matk UTSW 10 81258306 critical splice donor site probably null
R2356:Matk UTSW 10 81261543 critical splice donor site probably null
R3773:Matk UTSW 10 81258297 missense probably benign 0.05
R4420:Matk UTSW 10 81262457 missense possibly damaging 0.63
R4855:Matk UTSW 10 81262886 unclassified probably benign
R5873:Matk UTSW 10 81260129 missense probably benign 0.10
R5906:Matk UTSW 10 81260919 missense probably damaging 1.00
R6209:Matk UTSW 10 81259588 missense probably damaging 1.00
Posted On2013-04-17