Mutagenetix > Incidental Mutations

Incidental Mutation 'R7002:Mut'

544634

Institutional Source

Beutler Lab

Gene Symbol

Mut

Ensembl Gene

ENSMUSG00000023921

Gene Name

methylmalonyl-Coenzyme A mutase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40934685-40961989 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40941383 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 272 (I272N)

Ref Sequence

ENSEMBL: ENSMUSP00000130941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169611]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169611
AA Change: I272N

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: I272N

Domain	Start	End	E-Value	Type
Pfam:MM_CoA_mutase	60	572	3.7e-240	PFAM
Pfam:B12-binding	613	731	4.7e-17	PFAM

Meta Mutation Damage Score

0.1967

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,941,564	S1308P	probably damaging	Het
Abl2	A	T	1: 156,559,133	R29W	probably damaging	Het
Adam6b	C	A	12: 113,489,707	S48*	probably null	Het
Adamts18	T	A	8: 113,775,290	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,905,876	S229G	probably benign	Het
Apol10a	G	A	15: 77,484,846	R15H	possibly damaging	Het
Bend4	T	A	5: 67,398,259	T535S	probably benign	Het
Blm	T	C	7: 80,469,753	K1024R	probably benign	Het
Brca2	T	C	5: 150,539,918	V1049A	probably benign	Het
Cerk	T	C	15: 86,156,594	Y188C	possibly damaging	Het
Cic	C	T	7: 25,272,196	R451C	probably damaging	Het
Col18a1	A	T	10: 77,166,343	V10E	unknown	Het
Cplx1	T	A	5: 108,520,316	K58M	probably damaging	Het
Crybg1	T	A	10: 43,998,835	D759V	probably damaging	Het
Cwc25	A	T	11: 97,748,071	N342K	probably damaging	Het
Dab2	A	T	15: 6,435,365	T566S	probably benign	Het
Depdc5	G	A	5: 32,877,158		probably null	Het
Dip2b	T	A	15: 100,160,465	N408K	probably benign	Het
Dnah12	T	C	14: 26,876,998	I3631T	probably damaging	Het
Dnase1	A	G	16: 4,039,546	I236V	possibly damaging	Het
Duox1	C	T	2: 122,319,877	Q196*	probably null	Het
Eef2k	G	A	7: 120,891,932	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,362	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200	A1007V	probably benign	Het
Fsip2	T	A	2: 82,989,343	I5140N	possibly damaging	Het
Gan	T	C	8: 117,195,847	C440R	possibly damaging	Het
Garnl3	T	A	2: 33,054,193	H73L	possibly damaging	Het
Gid8	T	G	2: 180,713,303	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960	L39F	possibly damaging	Het
Gm5868	T	A	5: 72,586,420		probably null	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427	S306P	probably damaging	Het
Hdac4	T	G	1: 91,968,361	K729T	possibly damaging	Het
Hist2h2be	A	G	3: 96,221,373	I70V	probably benign	Het
Igfbp2	C	T	1: 72,849,645	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,417,389	I13L	probably benign	Het
Il18r1	G	A	1: 40,474,853	S73N	probably benign	Het
Immt	T	C	6: 71,861,040	V244A	probably damaging	Het
Irs1	T	C	1: 82,288,260	Y745C	probably benign	Het
Itpr3	T	C	17: 27,110,580	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,521	I45K	probably damaging	Het
Lamp3	G	T	16: 19,655,422	Q401K	possibly damaging	Het
Lrrfip1	T	A	1: 91,115,458	H528Q	probably benign	Het
Ltn1	A	T	16: 87,423,473	D245E	probably benign	Het
Mnat1	T	C	12: 73,230,705		probably benign	Het
Mpp6	C	T	6: 50,162,662	P116L	probably benign	Het
Mprip	A	C	11: 59,761,190	M1907L	probably benign	Het
Nfu1	C	A	6: 87,016,272	H131Q	probably benign	Het
Nup188	T	A	2: 30,323,568	S670R	probably damaging	Het
Olfr1090	T	C	2: 86,754,681	D19G	probably benign	Het
Olfr1477	A	G	19: 13,502,675	N111D	probably benign	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pbrm1	T	A	14: 31,064,820	D631E	probably benign	Het
Prss40	A	T	1: 34,552,400		probably null	Het
Rnf13	A	G	3: 57,833,612	N274S	probably damaging	Het
Rtl1	T	A	12: 109,593,947	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,075,263	H291L	possibly damaging	Het
Senp5	A	G	16: 31,983,775	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,647,208		probably null	Het
Serpina1e	T	C	12: 103,948,079	I329V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,034		unknown	Het
Smc5	A	G	19: 23,231,883	V639A	probably benign	Het
Speg	T	A	1: 75,423,268	V2453E	probably damaging	Het
Syt2	T	A	1: 134,744,104	F207I	probably damaging	Het
Tchp	C	T	5: 114,708,796	S48L	probably benign	Het
Trim12a	A	G	7: 104,304,176	S243P	possibly damaging	Het
Ttn	T	C	2: 76,798,217	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,107,837	M188K	probably benign	Het
Vps11	G	A	9: 44,355,079	T437I	probably damaging	Het
Xrn1	C	T	9: 96,047,790	T1498I	probably benign	Het
Zfp236	A	G	18: 82,691,576		probably null	Het
Zfp316	T	C	5: 143,263,355	D175G	unknown	Het
Zmynd11	A	G	13: 9,694,330	L256P	probably damaging	Het

Other mutations in Mut

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Mut	APN	17	40956271	missense	probably damaging	0.99
IGL01666:Mut	APN	17	40958811	missense	probably damaging	1.00
IGL02141:Mut	APN	17	40938817	missense	possibly damaging	0.68
IGL02257:Mut	APN	17	40938734	missense	possibly damaging	0.78
IGL02538:Mut	APN	17	40938619	missense	probably damaging	1.00
mix	UTSW	17	40941383	missense	possibly damaging	0.66
mongrel	UTSW	17	40938731	missense	possibly damaging	0.77
R0115:Mut	UTSW	17	40956227	missense	probably damaging	1.00
R0381:Mut	UTSW	17	40937258	missense	probably benign	0.04
R0603:Mut	UTSW	17	40947166	missense	probably damaging	0.99
R0928:Mut	UTSW	17	40937283	missense	probably benign	0.24
R1292:Mut	UTSW	17	40941407	missense	probably damaging	1.00
R1452:Mut	UTSW	17	40937468	splice site	probably benign
R1460:Mut	UTSW	17	40937375	missense	probably damaging	1.00
R2044:Mut	UTSW	17	40941451	missense	probably benign	0.00
R2256:Mut	UTSW	17	40956319	missense	probably benign	0.02
R2448:Mut	UTSW	17	40958841	missense	probably damaging	0.96
R3113:Mut	UTSW	17	40958356	missense	probably damaging	1.00
R3176:Mut	UTSW	17	40958872	splice site	probably null
R3276:Mut	UTSW	17	40958872	splice site	probably null
R3894:Mut	UTSW	17	40955139	missense	probably damaging	0.97
R4624:Mut	UTSW	17	40947055	missense	probably damaging	1.00
R4801:Mut	UTSW	17	40937351	missense	probably benign	0.08
R4802:Mut	UTSW	17	40937351	missense	probably benign	0.08
R5031:Mut	UTSW	17	40938827	missense	possibly damaging	0.96
R5394:Mut	UTSW	17	40947184	missense	probably benign	0.02
R5651:Mut	UTSW	17	40947111	missense	probably damaging	1.00
R6225:Mut	UTSW	17	40938731	missense	possibly damaging	0.77
R6274:Mut	UTSW	17	40956245	missense	probably benign	0.00
R7141:Mut	UTSW	17	40952839	missense	possibly damaging	0.68
R7203:Mut	UTSW	17	40938673	missense	probably benign	0.06
R7868:Mut	UTSW	17	40947043	missense	probably damaging	1.00
R8050:Mut	UTSW	17	40943893	missense	probably benign	0.06
R8228:Mut	UTSW	17	40937328	missense	possibly damaging	0.92
RF021:Mut	UTSW	17	40951758	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGAATCCAATGTAACAAACGC -3'
(R):5'- TCACTAGAAAGATGGCATTACTCC -3'

Sequencing Primer
(F):5'- CCAGCTAAGATTATAAACTACC -3'
(R):5'- GTGTGTGCTATAGATAAAACTGGC -3'

Posted On

2019-05-13