Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Mat1a'

700709

Institutional Source

Beutler Lab

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) question?

Stock #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40826992-40846369 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40827573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 9 (C9Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047286] [ENSMUST00000224514] [ENSMUST00000225720]

AlphaFold

Q91X83

Predicted Effect

probably benign
Transcript: ENSMUST00000047286
AA Change: C9Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: C9Y

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: C9Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225720
AA Change: C9Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,966,406 (GRCm39)	I187V	probably benign	Het
Adam7	C	A	14: 68,747,208 (GRCm39)	V584L	probably benign	Het
Arsg	T	A	11: 109,463,093 (GRCm39)	V451E	probably benign	Het
Btbd8	A	G	5: 107,600,034 (GRCm39)	D175G	probably benign	Het
Cacnb3	C	T	15: 98,540,486 (GRCm39)	P338L	probably benign	Het
Cars1	G	T	7: 143,138,533 (GRCm39)	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566 (GRCm39)		probably null	Het
Cdh23	C	T	10: 60,215,044 (GRCm39)	D1431N	probably benign	Het
Cenpf	A	T	1: 189,389,167 (GRCm39)	V1555D	probably benign	Het
Creb3l2	T	C	6: 37,311,506 (GRCm39)	N428D	possibly damaging	Het
Crebbp	A	T	16: 3,917,537 (GRCm39)		probably null	Het
Cstf1	C	A	2: 172,217,669 (GRCm39)	P94Q	probably damaging	Het
Dis3l	A	G	9: 64,217,447 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,005 (GRCm39)	D124E	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Eea1	T	G	10: 95,776,824 (GRCm39)	I5S	probably benign	Het
F7	A	T	8: 13,085,173 (GRCm39)	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,651,632 (GRCm39)	E558*	probably null	Het
Fcgr2b	C	T	1: 170,797,042 (GRCm39)		probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Flt1	T	C	5: 147,618,676 (GRCm39)	N220D	probably benign	Het
Fzd9	A	G	5: 135,278,812 (GRCm39)	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,106,398 (GRCm39)	Q545*	probably null	Het
Gkn3	T	C	6: 87,365,789 (GRCm39)	N10S	probably benign	Het
Gls	C	G	1: 52,207,553 (GRCm39)	V604L	probably benign	Het
Gtf2i	T	A	5: 134,292,619 (GRCm39)	Q375L	probably benign	Het
Hells	A	G	19: 38,935,289 (GRCm39)	M320V	possibly damaging	Het
Ints3	T	C	3: 90,310,410 (GRCm39)	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,622 (GRCm39)	L95F	probably benign	Het
Mfsd4b5	A	G	10: 39,851,099 (GRCm39)	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,281,864 (GRCm39)	I231M	possibly damaging	Het
Muc16	T	C	9: 18,449,309 (GRCm39)	T7580A	unknown	Het
Myb	A	T	10: 21,016,500 (GRCm39)	L670Q	probably damaging	Het
Nisch	A	G	14: 30,906,988 (GRCm39)	L236P	unknown	Het
Or5d38	A	C	2: 87,955,231 (GRCm39)	F33V	probably benign	Het
Plscr4	A	T	9: 92,366,934 (GRCm39)	M183L	probably benign	Het
Polr1a	T	A	6: 71,940,661 (GRCm39)	C998*	probably null	Het
Prokr2	A	T	2: 132,223,377 (GRCm39)	V55E	possibly damaging	Het
Prr12	A	T	7: 44,684,075 (GRCm39)	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rspo1	C	T	4: 124,885,132 (GRCm39)	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,156,082 (GRCm39)	D171E	probably damaging	Het
Ryr1	A	G	7: 28,743,313 (GRCm39)	F3895L	probably damaging	Het
Scn8a	G	T	15: 100,915,068 (GRCm39)	G1211*	probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarcd3	T	A	5: 24,801,831 (GRCm39)	M103L	probably benign	Het
Smg1	A	T	7: 117,739,031 (GRCm39)	S3458T	probably benign	Het
Smg6	C	T	11: 74,825,884 (GRCm39)	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,401 (GRCm39)	Q1708*	probably null	Het
Taf2	A	T	15: 54,926,464 (GRCm39)	V162E	probably null	Het
Tbc1d23	A	T	16: 57,032,748 (GRCm39)	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,818,960 (GRCm39)	S532G	probably benign	Het
Tedc1	T	C	12: 113,121,310 (GRCm39)	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,764,262 (GRCm39)	G588A	probably damaging	Het
Top2a	T	A	11: 98,901,368 (GRCm39)	K519*	probably null	Het
Trim47	T	A	11: 115,999,148 (GRCm39)	M243L	probably benign	Het
Ttn	A	T	2: 76,641,865 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,221,696 (GRCm39)	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,996,099 (GRCm39)	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,906,032 (GRCm39)	V197E	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
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
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'- CATATGCTCATAGGCACTTAGGC -3'
(R):5'- GGTGACACCTTTACAACCAGC -3'

Sequencing Primer
(F):5'- GGCACTTAGGCAGAAGTCATCTC -3'
(R):5'- TTCCTGCAAAGAGTCTCTACAG -3'

Posted On

2022-02-07