Incidental Mutation 'R6601:Mat1a'
| ID |
525293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mat1a
|
| Ensembl Gene |
ENSMUSG00000037798 |
| Gene Name |
methionine adenosyltransferase 1A |
| Synonyms |
SAMS, MAT, SAMS1, AdoMet, Ams, MATA1 |
| MMRRC Submission |
044725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
40826992-40846369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40827561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 5
(V5E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047286]
[ENSMUST00000224514]
[ENSMUST00000225720]
|
| AlphaFold |
Q91X83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047286
AA Change: V5E
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: V5E
| 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
AA Change: V5E
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225720
AA Change: V5E
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
| Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
| Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
| Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
| Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
| Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
| Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
| Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
| Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
| Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
| Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
| Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
| Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
| Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
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 |
|
R6546:Mat1a
|
UTSW |
14 |
40,843,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTCCTCATATGCTCATAGGCAC -3'
(R):5'- GGTGACACCTTTACAACCAGC -3'
Sequencing Primer
(F):5'- ATGCTCATAGGCACTTAGGC -3'
(R):5'- GTCTCTACAGCAATGGATGAACCTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation