Mutagenetix > Incidental Mutation

Incidental Mutation 'R8497:Mat1a'

658338

Institutional Source

Beutler Lab

Gene Symbol

Mat1a

Ensembl Gene

ENSMUSG00000037798

Gene Name

methionine adenosyltransferase 1A

Synonyms

SAMS, MAT, SAMS1, AdoMet, Ams, MATA1

MMRRC Submission

067939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R8497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40826992-40846369 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40843851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 357 (R357W)

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: R357W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: R357W

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: R357W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,923,250 (GRCm39)	H509Y	probably benign	Het
Afm	A	T	5: 90,699,202 (GRCm39)		probably null	Het
Apc	G	A	18: 34,446,083 (GRCm39)	C975Y	possibly damaging	Het
Ash1l	G	T	3: 88,914,951 (GRCm39)	M1860I	probably benign	Het
Bdkrb1	C	T	12: 105,570,463 (GRCm39)	Q10*	probably null	Het
Bphl	A	G	13: 34,221,706 (GRCm39)	K21E	possibly damaging	Het
Cadps2	T	C	6: 23,355,918 (GRCm39)	N837D	probably benign	Het
Cat	C	G	2: 103,287,221 (GRCm39)	A470P	probably damaging	Het
Cdc34	G	T	10: 79,520,845 (GRCm39)	D11Y	probably damaging	Het
Cep290	A	G	10: 100,387,320 (GRCm39)	E1936G	probably damaging	Het
Cnot6	A	T	11: 49,566,191 (GRCm39)	N501K	possibly damaging	Het
Cyth3	A	C	5: 143,678,328 (GRCm39)	D44A	probably benign	Het
Dchs1	C	T	7: 105,408,168 (GRCm39)	G1888D	probably damaging	Het
Ffar1	T	G	7: 30,560,334 (GRCm39)	I188L	probably benign	Het
Fhip1b	G	T	7: 105,030,396 (GRCm39)	D820E	probably damaging	Het
Gpr17	A	G	18: 32,080,173 (GRCm39)	Y297H	probably damaging	Het
H2-M10.5	A	C	17: 37,084,729 (GRCm39)	E151A	probably damaging	Het
Hmcn1	C	T	1: 150,455,990 (GRCm39)	R5310K	probably benign	Het
Hmcn2	T	C	2: 31,313,357 (GRCm39)	L3522P	possibly damaging	Het
Hs2st1	T	G	3: 144,140,452 (GRCm39)	T290P	probably damaging	Het
Il5ra	G	A	6: 106,715,066 (GRCm39)	L231F	probably benign	Het
Itgav	T	A	2: 83,615,805 (GRCm39)	C529S	probably damaging	Het
Itprid1	A	T	6: 55,875,179 (GRCm39)	R376S	probably benign	Het
Lrrcc1	A	G	3: 14,605,044 (GRCm39)	D138G	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtss2	T	C	8: 111,465,222 (GRCm39)	V492A	possibly damaging	Het
Nalcn	A	G	14: 123,752,771 (GRCm39)	V330A	probably damaging	Het
Neu3	A	T	7: 99,472,342 (GRCm39)		probably null	Het
Nfx1	A	G	4: 40,976,968 (GRCm39)	D214G	possibly damaging	Het
Or2a14	T	C	6: 43,130,818 (GRCm39)	L193P	probably damaging	Het
Or2y17	G	A	11: 49,231,721 (GRCm39)	D121N	probably damaging	Het
Or4f14	T	A	2: 111,742,964 (GRCm39)	I104F	possibly damaging	Het
Or5b104	T	C	19: 13,072,707 (GRCm39)	T102A	probably benign	Het
Pcdhb14	A	T	18: 37,582,349 (GRCm39)	H485L	probably benign	Het
Pdss2	A	C	10: 43,289,521 (GRCm39)	K342T	possibly damaging	Het
Ppargc1a	A	G	5: 51,647,570 (GRCm39)	S254P	probably damaging	Het
Prelid1	A	G	13: 55,470,833 (GRCm39)	D87G	probably damaging	Het
Prkg1	C	A	19: 31,279,709 (GRCm39)	C190F	probably damaging	Het
Psmb5	A	G	14: 54,851,837 (GRCm39)	S116P	possibly damaging	Het
Rassf6	A	G	5: 90,779,391 (GRCm39)	V14A	possibly damaging	Het
Ripk1	T	C	13: 34,211,934 (GRCm39)	S415P	probably damaging	Het
Rnft1	A	T	11: 86,386,132 (GRCm39)	K344*	probably null	Het
Sacs	G	A	14: 61,429,702 (GRCm39)	R587Q	probably benign	Het
Skp2	A	T	15: 9,127,971 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,848,988 (GRCm39)	K1047E	possibly damaging	Het
Spopfm2	T	A	3: 94,083,119 (GRCm39)	I231F	possibly damaging	Het
Szt2	G	A	4: 118,245,518 (GRCm39)	T1098I	possibly damaging	Het
Tcf20	A	G	15: 82,740,152 (GRCm39)	M433T	probably benign	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Utp23	C	T	15: 51,745,614 (GRCm39)	T144I	probably damaging	Het
Vmn2r105	T	C	17: 20,455,134 (GRCm39)	M1V	probably null	Het
Wdfy4	C	T	14: 32,688,356 (GRCm39)	V2926M	probably damaging	Het
Zfp407	T	C	18: 84,578,021 (GRCm39)	K1031E	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
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
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'- AAGAAGTTTGGGGCCTGCTG -3'
(R):5'- CATTATGGCTACTCTCCACTGGG -3'

Sequencing Primer
(F):5'- GCCTCTGCTCTTTAAAGTCTGTGAG -3'
(R):5'- CCAAGTTGGGGGCATGTAC -3'

Posted On

2021-01-18