Incidental Mutation 'IGL01506:Mat1a'
| ID |
89072 |
| 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 # |
IGL01506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
40826992-40846369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40831395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 41
(A41E)
|
| 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: A41E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: A41E
| 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 damaging
Transcript: ENSMUST00000224514
AA Change: A41E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225720
AA Change: A41E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,447 (GRCm39) |
V2398A |
probably benign |
Het |
| Abhd2 |
T |
A |
7: 78,975,200 (GRCm39) |
I130N |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,430 (GRCm39) |
I35N |
probably benign |
Het |
| Car8 |
T |
A |
4: 8,169,761 (GRCm39) |
E249V |
probably damaging |
Het |
| Dpp8 |
A |
G |
9: 64,970,699 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,559 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,251 (GRCm39) |
V59A |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,835 (GRCm39) |
I154V |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Larp1b |
C |
A |
3: 40,987,875 (GRCm39) |
Y32* |
probably null |
Het |
| Magea4 |
G |
A |
X: 71,266,376 (GRCm39) |
D252N |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,137,202 (GRCm39) |
V3190E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,674,082 (GRCm39) |
P249L |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,171 (GRCm39) |
I69V |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,943,126 (GRCm39) |
L126P |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,470 (GRCm39) |
L382Q |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,802 (GRCm39) |
T403I |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,249,246 (GRCm39) |
Y9H |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,624 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
T |
16: 91,454,174 (GRCm39) |
I974L |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,881,309 (GRCm39) |
S618P |
probably benign |
Het |
| Syndig1 |
C |
T |
2: 149,741,677 (GRCm39) |
R88C |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,893,329 (GRCm39) |
F944L |
probably damaging |
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation