Incidental Mutation 'R8462:Matk'
| ID |
656615 |
| 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 |
067906-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81088769-81098819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 81097859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 315
(R315G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046114]
[ENSMUST00000105328]
[ENSMUST00000117488]
[ENSMUST00000119547]
[ENSMUST00000120265]
[ENSMUST00000121205]
[ENSMUST00000128576]
[ENSMUST00000130282]
[ENSMUST00000220297]
|
| 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 damaging
Transcript: ENSMUST00000105328
AA Change: R314G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100965
Gene: ENSMUSG00000004933
AA Change: R314G
| 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: R354G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113221
Gene: ENSMUSG00000004933
AA Change: R354G
| 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: R314G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113576
Gene: ENSMUSG00000004933
AA Change: R314G
| 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: R315G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113666
Gene: ENSMUSG00000004933
AA Change: R315G
| 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: R315G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113043
Gene: ENSMUSG00000004933
AA Change: R315G
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220297
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,074 (GRCm39) |
V103A |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,104,499 (GRCm39) |
N729S |
probably benign |
Het |
| Ap2a2 |
T |
A |
7: 141,210,394 (GRCm39) |
N883K |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,749,579 (GRCm39) |
I464T |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,777,504 (GRCm39) |
H184Q |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,746,874 (GRCm39) |
D244G |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,320,167 (GRCm39) |
E882* |
probably null |
Het |
| Cfap58 |
T |
A |
19: 47,972,089 (GRCm39) |
V673E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,706,130 (GRCm39) |
N1155S |
probably benign |
Het |
| Colgalt2 |
C |
A |
1: 152,378,823 (GRCm39) |
H416Q |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,561,404 (GRCm39) |
L230F |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,622,079 (GRCm39) |
S84* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,875,603 (GRCm39) |
D475G |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,173 (GRCm39) |
N54K |
probably null |
Het |
| Grm3 |
T |
C |
5: 9,562,365 (GRCm39) |
D495G |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,266,797 (GRCm39) |
T1629I |
probably benign |
Het |
| Klf2 |
A |
T |
8: 73,073,373 (GRCm39) |
N59I |
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,377,284 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,680 (GRCm39) |
V838A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,620,069 (GRCm39) |
S786P |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,290,666 (GRCm39) |
V249A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,090,654 (GRCm39) |
R273G |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,446,189 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
A |
T |
19: 4,155,135 (GRCm39) |
H321L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,130 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,303 (GRCm39) |
D2197G |
possibly damaging |
Het |
| Rmdn2 |
C |
T |
17: 79,978,053 (GRCm39) |
T338M |
probably damaging |
Het |
| Rps10 |
A |
G |
17: 27,853,208 (GRCm39) |
S54P |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,422 (GRCm39) |
S89P |
probably benign |
Het |
| Sh3yl1 |
T |
C |
12: 30,992,072 (GRCm39) |
Y176H |
probably damaging |
Het |
| Sppl2c |
G |
T |
11: 104,077,532 (GRCm39) |
A111S |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,598 (GRCm39) |
E317G |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,324 (GRCm39) |
E425G |
probably damaging |
Het |
| Stxbp1 |
C |
T |
2: 32,707,293 (GRCm39) |
|
probably null |
Het |
| Traf6 |
G |
A |
2: 101,527,801 (GRCm39) |
R517Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,387 (GRCm39) |
V295A |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,941,091 (GRCm39) |
D383E |
possibly damaging |
Het |
| Zfp984 |
A |
G |
4: 147,839,796 (GRCm39) |
C352R |
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 |
|
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 |
|
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'- AGCTTCTGCAGTTTGCTCTG -3'
(R):5'- AGGGGTGCACATAGTGTCAC -3'
Sequencing Primer
(F):5'- CTGTAAGTGACATTCCATCCAGG -3'
(R):5'- TGCACATAGTGTCACAGAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation