Incidental Mutation 'R5873:Matk'
| ID |
455320 |
| 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 |
044080-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5873 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81088769-81098819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81095963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 166
(V166E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046114]
[ENSMUST00000105328]
[ENSMUST00000117488]
[ENSMUST00000119547]
[ENSMUST00000120265]
[ENSMUST00000121205]
[ENSMUST00000128576]
[ENSMUST00000130282]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046114
|
| SMART Domains |
Protein: ENSMUSP00000039951
Gene: ENSMUSG00000034932
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L37
|
60 |
103 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105328
AA Change: V166E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000100965
Gene: ENSMUSG00000004933
AA Change: V166E
| 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: V206E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113221
Gene: ENSMUSG00000004933
AA Change: V206E
| 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
AA Change: V166E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113576
Gene: ENSMUSG00000004933
AA Change: V166E
| 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
AA Change: V167E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113666
Gene: ENSMUSG00000004933
AA Change: V167E
| 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
AA Change: V167E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113043
Gene: ENSMUSG00000004933
AA Change: V167E
| 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 |
noncoding transcript
Transcript: ENSMUST00000151660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148735
|
| 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 |
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,630,167 (GRCm39) |
|
probably null |
Het |
| 4930505A04Rik |
T |
A |
11: 30,376,220 (GRCm39) |
K216* |
probably null |
Het |
| 5330417H12Rik |
T |
C |
7: 107,223,975 (GRCm39) |
|
probably benign |
Het |
| Abcc4 |
G |
T |
14: 118,763,702 (GRCm39) |
D1044E |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,159,282 (GRCm39) |
T656A |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,327,196 (GRCm39) |
N661S |
probably benign |
Het |
| Asah2 |
A |
G |
19: 31,981,082 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
A |
G |
18: 22,649,142 (GRCm39) |
D377G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,381 (GRCm39) |
S279P |
probably benign |
Het |
| C7 |
A |
G |
15: 5,034,717 (GRCm39) |
V610A |
probably damaging |
Het |
| Cacna2d3 |
C |
A |
14: 29,442,891 (GRCm39) |
A48S |
probably benign |
Het |
| Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
| Casc3 |
A |
G |
11: 98,712,270 (GRCm39) |
Y103C |
unknown |
Het |
| Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,309,182 (GRCm39) |
|
probably benign |
Het |
| Cox10 |
A |
G |
11: 63,962,512 (GRCm39) |
S110P |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,304,931 (GRCm39) |
Y439C |
probably damaging |
Het |
| Crybb2 |
C |
T |
5: 113,213,759 (GRCm39) |
|
probably null |
Het |
| Cyp2b23 |
C |
T |
7: 26,374,431 (GRCm39) |
R271H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,947,723 (GRCm39) |
I3039V |
probably benign |
Het |
| Dnpep |
T |
C |
1: 75,291,787 (GRCm39) |
D242G |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,855 (GRCm39) |
N660I |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,061,640 (GRCm39) |
D471G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,125,258 (GRCm39) |
L97H |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,389,850 (GRCm39) |
I142F |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,302,350 (GRCm39) |
P519Q |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,801,472 (GRCm39) |
F92I |
probably benign |
Het |
| Galm |
A |
G |
17: 80,445,532 (GRCm39) |
E94G |
probably benign |
Het |
| Gfy |
T |
G |
7: 44,827,004 (GRCm39) |
H364P |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,875,821 (GRCm39) |
S1558P |
possibly damaging |
Het |
| Hmmr |
T |
A |
11: 40,598,527 (GRCm39) |
Q600L |
probably damaging |
Het |
| Hnrnph3 |
A |
G |
10: 62,855,170 (GRCm39) |
|
probably null |
Het |
| Igkv4-90 |
T |
A |
6: 68,784,453 (GRCm39) |
N21I |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,834,598 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
A |
C |
11: 99,257,716 (GRCm39) |
L375R |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,545,936 (GRCm39) |
V578A |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,305,052 (GRCm39) |
|
probably null |
Het |
| Muc4 |
C |
A |
16: 32,570,113 (GRCm39) |
T391K |
possibly damaging |
Het |
| Mybl1 |
T |
A |
1: 9,755,890 (GRCm39) |
T220S |
possibly damaging |
Het |
| Nrp1 |
T |
C |
8: 129,194,858 (GRCm39) |
V438A |
probably damaging |
Het |
| Or2y6 |
A |
T |
11: 52,104,180 (GRCm39) |
L212Q |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,348 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,785,110 (GRCm39) |
W86R |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,016,388 (GRCm39) |
D911V |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,788,804 (GRCm39) |
Q854R |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,923,913 (GRCm39) |
|
probably null |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,617 (GRCm39) |
T416A |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,609,889 (GRCm39) |
D585G |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,159,466 (GRCm39) |
V529A |
probably benign |
Het |
| Rc3h1 |
C |
T |
1: 160,787,071 (GRCm39) |
T822I |
probably damaging |
Het |
| Slc25a18 |
A |
T |
6: 120,763,242 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,901,818 (GRCm39) |
N792S |
probably benign |
Het |
| Tat |
T |
C |
8: 110,718,581 (GRCm39) |
|
probably null |
Het |
| Tbx21 |
A |
T |
11: 97,005,474 (GRCm39) |
|
probably null |
Het |
| Txndc11 |
A |
G |
16: 10,893,069 (GRCm39) |
L887P |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,673,831 (GRCm39) |
T399A |
possibly damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,633 (GRCm39) |
H736L |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,157,204 (GRCm39) |
R496G |
possibly damaging |
Het |
| Zranb2 |
C |
T |
3: 157,242,020 (GRCm39) |
R36* |
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 |
|
|
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 |
|
|
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'- TGCCATGGAAACCCGATCAC -3'
(R):5'- CCGCCACTCTGAAGATTCAAG -3'
Sequencing Primer
(F):5'- GATCACCTTAGCCTGGCACTTAGAG -3'
(R):5'- ACTCTGAAGATTCAAGCAGGAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation