Incidental Mutation 'R6546:Mat1a'
| ID |
521220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mat1a
|
| Ensembl Gene |
ENSMUSG00000037798 |
| Gene Name |
methionine adenosyltransferase 1A |
| Synonyms |
SAMS, MAT, SAMS1, AdoMet, Ams, MATA1 |
| MMRRC Submission |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
40826992-40846369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40843379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 302
(V302M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047286]
[ENSMUST00000224514]
[ENSMUST00000225720]
|
| AlphaFold |
Q91X83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047286
AA Change: V302M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: V302M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S-AdoMet_synt_N
|
18 |
116 |
1.4e-44 |
PFAM |
|
Pfam:S-AdoMet_synt_M
|
130 |
251 |
3.1e-46 |
PFAM |
|
Pfam:S-AdoMet_synt_C
|
253 |
390 |
1.6e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224514
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225720
AA Change: V302M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the AdoMet synthase family. Methionine adenosyltransferase is a product of this gene (the alpha form) and the beta form and catalyzes the formation of S-adenosylmethionine from methionine and ATP.[provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
|
| Other mutations in Mat1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Mat1a
|
APN |
14 |
40,827,651 (GRCm39) |
splice site |
probably benign |
|
|
IGL01506:Mat1a
|
APN |
14 |
40,831,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01616:Mat1a
|
APN |
14 |
40,831,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01701:Mat1a
|
APN |
14 |
40,836,772 (GRCm39) |
missense |
probably benign |
|
|
IGL01921:Mat1a
|
APN |
14 |
40,836,292 (GRCm39) |
splice site |
probably benign |
|
|
IGL02681:Mat1a
|
APN |
14 |
40,844,453 (GRCm39) |
splice site |
probably benign |
|
|
IGL03294:Mat1a
|
APN |
14 |
40,827,561 (GRCm39) |
missense |
probably benign |
0.21 |
|
ANU74:Mat1a
|
UTSW |
14 |
40,833,099 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0102:Mat1a
|
UTSW |
14 |
40,842,187 (GRCm39) |
splice site |
probably benign |
|
|
R1445:Mat1a
|
UTSW |
14 |
40,843,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Mat1a
|
UTSW |
14 |
40,843,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Mat1a
|
UTSW |
14 |
40,832,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Mat1a
|
UTSW |
14 |
40,844,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3692:Mat1a
|
UTSW |
14 |
40,843,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6601:Mat1a
|
UTSW |
14 |
40,827,561 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7459:Mat1a
|
UTSW |
14 |
40,842,141 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7657:Mat1a
|
UTSW |
14 |
40,844,476 (GRCm39) |
nonsense |
probably null |
|
|
R8497:Mat1a
|
UTSW |
14 |
40,843,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Mat1a
|
UTSW |
14 |
40,843,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Mat1a
|
UTSW |
14 |
40,827,573 (GRCm39) |
missense |
probably benign |
|
|
R9451:Mat1a
|
UTSW |
14 |
40,836,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Mat1a
|
UTSW |
14 |
40,827,467 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTGCTCACAGGAGACTC -3'
(R):5'- TGCAGAGATGCAACAGTGAC -3'
Sequencing Primer
(F):5'- CAGTCTGCACTCAGTGTCAGTG -3'
(R):5'- CAAAAAGGCTTTCCTACTGGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation