Incidental Mutation 'IGL00477:Mat1a'
| ID |
4212 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mat1a
|
| Ensembl Gene |
ENSMUSG00000037798 |
| Gene Name |
methionine adenosyltransferase 1A |
| Synonyms |
SAMS, MAT, SAMS1, AdoMet, Ams, MATA1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL00477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
40826992-40846369 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 40827651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047286]
[ENSMUST00000224514]
[ENSMUST00000225720]
|
| AlphaFold |
Q91X83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047286
|
| SMART Domains |
Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
| 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 benign
Transcript: ENSMUST00000225720
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,632,867 (GRCm39) |
|
noncoding transcript |
Het |
| Bmal2 |
A |
G |
6: 146,728,827 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,141,468 (GRCm39) |
T575A |
probably damaging |
Het |
| Dapl1 |
T |
C |
2: 59,324,832 (GRCm39) |
S28P |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,890,918 (GRCm39) |
E283V |
probably damaging |
Het |
| Fastkd3 |
G |
A |
13: 68,732,647 (GRCm39) |
V323I |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,180 (GRCm39) |
G581C |
probably damaging |
Het |
| Igsf5 |
A |
G |
16: 96,192,220 (GRCm39) |
E173G |
possibly damaging |
Het |
| Mmp1a |
T |
A |
9: 7,476,260 (GRCm39) |
D452E |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,150,388 (GRCm39) |
M879K |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Qrsl1 |
G |
T |
10: 43,752,488 (GRCm39) |
T445N |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,577,138 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,658,128 (GRCm39) |
M259T |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,818,301 (GRCm39) |
V543A |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,418,879 (GRCm39) |
T3009I |
probably damaging |
Het |
| Usp7 |
A |
T |
16: 8,515,839 (GRCm39) |
I661N |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,519,006 (GRCm39) |
L751R |
probably damaging |
Het |
|
| Other mutations in Mat1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6546:Mat1a
|
UTSW |
14 |
40,843,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation