Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Mmut'

507553

Institutional Source

Beutler Lab

Gene Symbol

Mmut

Ensembl Gene

ENSMUSG00000023921

Gene Name

methylmalonyl-Coenzyme A mutase

Synonyms

D230010K02Rik, Mut

MMRRC Submission

044444-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41245576-41272879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41267136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 570 (V570A)

Ref Sequence

ENSEMBL: ENSMUSP00000130941 (fasta)

Gene Model

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

AlphaFold

P16332

Predicted Effect

probably benign
Transcript: ENSMUST00000169611
AA Change: V570A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: V570A

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

0.2023

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,172,600 (GRCm39)	S528T	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,258,354 (GRCm39)	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,771,243 (GRCm39)	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,343,832 (GRCm39)	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,016,783 (GRCm39)	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,210,161 (GRCm39)	V138A	probably damaging	Het
Cep290	A	G	10: 100,366,069 (GRCm39)	E1099G	probably damaging	Het
Cers1	T	A	8: 70,783,727 (GRCm39)	L225Q	probably damaging	Het
Cfb	T	C	17: 35,081,069 (GRCm39)	Q7R	probably benign	Het
Clk4	A	G	11: 51,162,748 (GRCm39)	S98G	possibly damaging	Het
Clock	A	G	5: 76,385,000 (GRCm39)	S406P	probably benign	Het
Csmd3	T	C	15: 47,484,833 (GRCm39)	I3178V	probably benign	Het
Dock10	A	G	1: 80,516,540 (GRCm39)	S1397P	probably damaging	Het
Fer1l4	A	G	2: 155,871,188 (GRCm39)	L1421P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Greb1	G	T	12: 16,785,152 (GRCm39)	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,653,388 (GRCm39)	C336S	probably damaging	Het
Hdac1	A	G	4: 129,412,902 (GRCm39)	C261R	probably damaging	Het
Htt	T	C	5: 35,009,431 (GRCm39)	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,742,958 (GRCm39)	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,718,961 (GRCm39)	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180 (GRCm38)	V112I	probably benign	Het
Kif21b	A	G	1: 136,077,156 (GRCm39)	I393V	possibly damaging	Het
Krt74	T	C	15: 101,671,872 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,809 (GRCm39)	N24S	probably null	Het
Myh7	T	C	14: 55,216,943 (GRCm39)	D1138G	probably damaging	Het
Nktr	T	C	9: 121,560,631 (GRCm39)	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,320,554 (GRCm39)	L861Q	probably damaging	Het
Notch3	C	A	17: 32,366,264 (GRCm39)	R990L	probably benign	Het
Nrap	T	C	19: 56,350,153 (GRCm39)	D655G	probably benign	Het
Or10ak8	A	T	4: 118,774,427 (GRCm39)	V79E	probably benign	Het
Or5b99	G	A	19: 12,977,234 (GRCm39)	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,047,426 (GRCm39)	I463N	probably damaging	Het
Pcsk6	A	T	7: 65,683,592 (GRCm39)	R749W	probably damaging	Het
Plaat5	C	T	19: 7,614,831 (GRCm39)	T231I	probably damaging	Het
Plxnb1	T	C	9: 108,941,209 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,931,874 (GRCm39)		probably null	Het
Ppm1g	T	C	5: 31,363,750 (GRCm39)	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,096,751 (GRCm39)	S191P	probably benign	Het
Prodh	T	C	16: 17,898,922 (GRCm39)	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,607,911 (GRCm39)	V103A	possibly damaging	Het
Sap18b	C	T	8: 96,552,169 (GRCm39)	H60Y	probably benign	Het
Sclt1	A	G	3: 41,583,951 (GRCm39)		probably null	Het
Serpinb1a	G	T	13: 33,026,849 (GRCm39)	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,623,231 (GRCm39)	Q107*	probably null	Het
Sipa1l2	C	T	8: 126,196,611 (GRCm39)	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Uaca	T	A	9: 60,757,573 (GRCm39)		probably null	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,156,257 (GRCm39)	R42W	probably damaging	Het
Zfp326	T	A	5: 106,053,846 (GRCm39)	L242Q	probably damaging	Het

Other mutations in Mmut

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Mmut	APN	17	41,267,162 (GRCm39)	missense	probably damaging	0.99
IGL01666:Mmut	APN	17	41,269,702 (GRCm39)	missense	probably damaging	1.00
IGL02141:Mmut	APN	17	41,249,708 (GRCm39)	missense	possibly damaging	0.68
IGL02257:Mmut	APN	17	41,249,625 (GRCm39)	missense	possibly damaging	0.78
IGL02538:Mmut	APN	17	41,249,510 (GRCm39)	missense	probably damaging	1.00
mix	UTSW	17	41,252,274 (GRCm39)	missense	possibly damaging	0.66
mongrel	UTSW	17	41,249,622 (GRCm39)	missense	possibly damaging	0.77
R0115:Mmut	UTSW	17	41,267,118 (GRCm39)	missense	probably damaging	1.00
R0381:Mmut	UTSW	17	41,248,149 (GRCm39)	missense	probably benign	0.04
R0603:Mmut	UTSW	17	41,258,057 (GRCm39)	missense	probably damaging	0.99
R0928:Mmut	UTSW	17	41,248,174 (GRCm39)	missense	probably benign	0.24
R1292:Mmut	UTSW	17	41,252,298 (GRCm39)	missense	probably damaging	1.00
R1452:Mmut	UTSW	17	41,248,359 (GRCm39)	splice site	probably benign
R1460:Mmut	UTSW	17	41,248,266 (GRCm39)	missense	probably damaging	1.00
R2044:Mmut	UTSW	17	41,252,342 (GRCm39)	missense	probably benign	0.00
R2256:Mmut	UTSW	17	41,267,210 (GRCm39)	missense	probably benign	0.02
R2448:Mmut	UTSW	17	41,269,732 (GRCm39)	missense	probably damaging	0.96
R3113:Mmut	UTSW	17	41,269,247 (GRCm39)	missense	probably damaging	1.00
R3176:Mmut	UTSW	17	41,269,763 (GRCm39)	splice site	probably null
R3276:Mmut	UTSW	17	41,269,763 (GRCm39)	splice site	probably null
R3894:Mmut	UTSW	17	41,266,030 (GRCm39)	missense	probably damaging	0.97
R4624:Mmut	UTSW	17	41,257,946 (GRCm39)	missense	probably damaging	1.00
R4801:Mmut	UTSW	17	41,248,242 (GRCm39)	missense	probably benign	0.08
R4802:Mmut	UTSW	17	41,248,242 (GRCm39)	missense	probably benign	0.08
R5031:Mmut	UTSW	17	41,249,718 (GRCm39)	missense	possibly damaging	0.96
R5394:Mmut	UTSW	17	41,258,075 (GRCm39)	missense	probably benign	0.02
R5651:Mmut	UTSW	17	41,258,002 (GRCm39)	missense	probably damaging	1.00
R6225:Mmut	UTSW	17	41,249,622 (GRCm39)	missense	possibly damaging	0.77
R7002:Mmut	UTSW	17	41,252,274 (GRCm39)	missense	possibly damaging	0.66
R7141:Mmut	UTSW	17	41,263,730 (GRCm39)	missense	possibly damaging	0.68
R7203:Mmut	UTSW	17	41,249,564 (GRCm39)	missense	probably benign	0.06
R7868:Mmut	UTSW	17	41,257,934 (GRCm39)	missense	probably damaging	1.00
R8050:Mmut	UTSW	17	41,254,784 (GRCm39)	missense	probably benign	0.06
R8228:Mmut	UTSW	17	41,248,219 (GRCm39)	missense	possibly damaging	0.92
R8904:Mmut	UTSW	17	41,248,284 (GRCm39)	missense	probably damaging	1.00
R8977:Mmut	UTSW	17	41,249,481 (GRCm39)	missense	probably benign
R9182:Mmut	UTSW	17	41,252,310 (GRCm39)	missense	probably damaging	1.00
RF021:Mmut	UTSW	17	41,262,649 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCACTTTCATATACGTATTCTCAGG -3'
(R):5'- TCAAAGTTTCACATACTGGCAC -3'

Sequencing Primer
(F):5'- AACATTCTTGAGGTTTATACAGCC -3'
(R):5'- GTGTATTTCACAAGTAACAGGAACAC -3'

Posted On

2018-03-15