Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Mat1a'

675886

Institutional Source

Beutler Lab

Gene Symbol

Mat1a

Ensembl Gene

ENSMUSG00000037798

Gene Name

methionine adenosyltransferase I, alpha

Synonyms

Ams, SAMS, MAT, SAMS1, MATA1, AdoMet

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41105035-41124412 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41121831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 336 (Y336H)

Ref Sequence

ENSEMBL: ENSMUSP00000044288 (fasta)

Gene Model

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

AlphaFold

Q91X83

Predicted Effect

probably damaging
Transcript: ENSMUST00000047286
AA Change: Y336H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: Y336H

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: Y336H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Mat1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Mat1a	APN	14	41105694	splice site	probably benign
IGL01506:Mat1a	APN	14	41109438	missense	probably damaging	1.00
IGL01616:Mat1a	APN	14	41109479	missense	probably damaging	1.00
IGL01701:Mat1a	APN	14	41114815	missense	probably benign
IGL01921:Mat1a	APN	14	41114335	splice site	probably benign
IGL02681:Mat1a	APN	14	41122496	splice site	probably benign
IGL03294:Mat1a	APN	14	41105604	missense	probably benign	0.21
ANU74:Mat1a	UTSW	14	41111142	missense	probably benign	0.12
R0102:Mat1a	UTSW	14	41120230	splice site	probably benign
R1445:Mat1a	UTSW	14	41121840	missense	probably damaging	1.00
R1917:Mat1a	UTSW	14	41121437	missense	probably damaging	1.00
R1968:Mat1a	UTSW	14	41111034	missense	probably damaging	1.00
R2518:Mat1a	UTSW	14	41122512	missense	probably benign	0.00
R3692:Mat1a	UTSW	14	41121381	missense	probably damaging	0.99
R6546:Mat1a	UTSW	14	41121422	missense	probably damaging	1.00
R6601:Mat1a	UTSW	14	41105604	missense	probably benign	0.21
R7459:Mat1a	UTSW	14	41120184	missense	probably benign	0.11
R7657:Mat1a	UTSW	14	41122519	nonsense	probably null
R8497:Mat1a	UTSW	14	41121894	missense	probably damaging	1.00
R9240:Mat1a	UTSW	14	41105616	missense	probably benign
R9451:Mat1a	UTSW	14	41114846	missense	probably damaging	0.98
Z1176:Mat1a	UTSW	14	41105510	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCTGGCAAACTAGGGAAAG -3'
(R):5'- CATTTGGGACCCTCCTGTTGTAAG -3'

Sequencing Primer
(F):5'- GAGAGCACACCTGAAGACAG -3'
(R):5'- ACCCTCCTGTTGTAAGTGTCTGAAG -3'

Posted On

2021-07-15