Mutagenetix > Incidental Mutation

Incidental Mutation 'R9182:Mmut'

697152

Institutional Source

Beutler Lab

Gene Symbol

Mmut

Ensembl Gene

ENSMUSG00000023921

Gene Name

methylmalonyl-Coenzyme A mutase

Synonyms

D230010K02Rik, Mut

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41245576-41272879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41252310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 284 (E284G)

Ref Sequence

ENSEMBL: ENSMUSP00000130941 (fasta)

Gene Model

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

AlphaFold

P16332

Predicted Effect

probably damaging
Transcript: ENSMUST00000169611
AA Change: E284G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: E284G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (99/99)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,243,473 (GRCm39)	M190K	probably damaging	Het
4931406B18Rik	A	G	7: 43,153,640 (GRCm39)	W3R	probably damaging	Het
Acap3	T	C	4: 155,989,892 (GRCm39)	L720P	probably damaging	Het
Actc1	T	C	2: 113,882,494 (GRCm39)	T7A	probably benign	Het
Angpt2	T	A	8: 18,760,658 (GRCm39)		probably null	Het
Babam2	T	A	5: 32,058,401 (GRCm39)	D228E	possibly damaging	Het
Ccar1	G	A	10: 62,621,347 (GRCm39)	L34F	probably damaging	Het
Ccdc83	T	C	7: 89,886,102 (GRCm39)	D219G	probably damaging	Het
Cct2	A	G	10: 116,892,025 (GRCm39)	V341A	probably benign	Het
Cdc20b	G	A	13: 113,208,503 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,838,737 (GRCm39)	L1312Q	probably damaging	Het
Cltc	G	A	11: 86,595,982 (GRCm39)	T1252I	probably damaging	Het
Cnpy1	G	T	5: 28,450,799 (GRCm39)	D2E	possibly damaging	Het
Crat	C	T	2: 30,298,085 (GRCm39)	V205M	probably damaging	Het
Cspg4b	A	G	13: 113,457,358 (GRCm39)	N1135D		Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dglucy	T	C	12: 100,811,028 (GRCm39)	V254A	possibly damaging	Het
Disp3	A	G	4: 148,354,841 (GRCm39)	S392P	probably damaging	Het
Dlx6	A	T	6: 6,863,456 (GRCm39)	Q26L	probably benign	Het
Dnah3	T	C	7: 119,684,351 (GRCm39)	D258G	probably damaging	Het
Dnah6	A	T	6: 73,121,688 (GRCm39)	Y1431*	probably null	Het
Dnah7b	T	C	1: 46,330,038 (GRCm39)	I3294T	probably benign	Het
Dnai2	A	G	11: 114,623,839 (GRCm39)	N34S	probably benign	Het
Dock2	T	C	11: 34,260,398 (GRCm39)	K981R	possibly damaging	Het
Entpd8	T	C	2: 24,971,931 (GRCm39)	I33T	probably benign	Het
Eppk1	A	G	15: 75,995,453 (GRCm39)	L476P	probably benign	Het
Etv1	T	A	12: 38,830,716 (GRCm39)		probably null	Het
Fads2b	T	C	2: 85,330,581 (GRCm39)	H242R	probably benign	Het
Fam193a	T	A	5: 34,623,361 (GRCm39)	N1316K	possibly damaging	Het
Fkbp4	T	C	6: 128,415,382 (GRCm39)	E31G	probably benign	Het
Fnbp1l	C	T	3: 122,363,345 (GRCm39)	D81N	probably damaging	Het
Fstl4	T	C	11: 53,024,905 (GRCm39)	V259A	probably damaging	Het
Glipr1l1	T	C	10: 111,912,056 (GRCm39)	S197P	probably damaging	Het
Gprin3	A	T	6: 59,331,197 (GRCm39)	M370K	probably benign	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gys2	T	G	6: 142,391,735 (GRCm39)	Y509S	probably damaging	Het
Gys2	T	C	6: 142,406,978 (GRCm39)	N126S	possibly damaging	Het
Hmcn1	A	T	1: 150,488,405 (GRCm39)	W4292R	probably damaging	Het
Hmcn1	C	A	1: 150,500,337 (GRCm39)	E3952*	probably null	Het
Hsd3b9	C	T	3: 98,354,005 (GRCm39)	A165T	possibly damaging	Het
Htr1f	T	C	16: 64,746,825 (GRCm39)	M156V	probably benign	Het
Il21r	G	A	7: 125,228,213 (GRCm39)	G228E	probably benign	Het
Kat6b	C	T	14: 21,567,187 (GRCm39)	S82L	probably benign	Het
Kntc1	T	A	5: 123,940,355 (GRCm39)	L1651Q	probably damaging	Het
Lipi	G	T	16: 75,357,673 (GRCm39)	Y297*	probably null	Het
Mapre3	T	C	5: 31,022,016 (GRCm39)	S190P	possibly damaging	Het
Mmp8	T	A	9: 7,567,467 (GRCm39)	Y442*	probably null	Het
Mt3	G	A	8: 94,880,615 (GRCm39)	E62K	unknown	Het
Myh13	A	G	11: 67,228,579 (GRCm39)	E373G	probably damaging	Het
Myh7	T	C	14: 55,226,374 (GRCm39)	Y422C	probably damaging	Het
Nalcn	A	G	14: 123,834,016 (GRCm39)	V53A	probably damaging	Het
Nucb2	A	G	7: 116,121,070 (GRCm39)		probably null	Het
Opn5	A	T	17: 42,903,890 (GRCm39)	H148Q	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,782 (GRCm39)	L117F	probably benign	Het
Or51h1	A	T	7: 102,308,927 (GRCm39)	I300L	probably damaging	Het
Or51v14	T	C	7: 103,261,063 (GRCm39)	K166E	possibly damaging	Het
Or6b1	A	T	6: 42,815,010 (GRCm39)	N65I	probably benign	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or8b56	C	A	9: 38,739,172 (GRCm39)	H56N	probably damaging	Het
Osmr	T	A	15: 6,850,569 (GRCm39)	D679V	probably damaging	Het
Pde4dip	T	C	3: 97,602,314 (GRCm39)	D2305G	probably benign	Het
Pdgfrl	A	T	8: 41,429,996 (GRCm39)	Q121L	probably damaging	Het
Pls1	C	A	9: 95,658,811 (GRCm39)	V226F	probably damaging	Het
Plxnd1	T	A	6: 115,970,746 (GRCm39)	I341F	probably damaging	Het
Ppfia2	T	A	10: 106,763,640 (GRCm39)	M1211K	probably benign	Het
Ppfibp2	T	A	7: 107,308,053 (GRCm39)	Y229N	possibly damaging	Het
Prss53	A	G	7: 127,487,554 (GRCm39)	S266P	probably benign	Het
Pycr2	C	T	1: 180,734,397 (GRCm39)	Q226*	probably null	Het
Rad50	T	C	11: 53,583,590 (GRCm39)	H397R	probably benign	Het
Raf1	T	C	6: 115,600,440 (GRCm39)	E393G	probably damaging	Het
Reln	T	C	5: 22,106,617 (GRCm39)	D3251G	probably benign	Het
Robo4	A	T	9: 37,313,206 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,173,806 (GRCm39)		probably null	Het
Serpinb6a	T	C	13: 34,109,360 (GRCm39)	D145G	probably damaging	Het
Setx	T	A	2: 29,061,299 (GRCm39)	M2236K	probably damaging	Het
Sgms1	A	G	19: 32,101,758 (GRCm39)	V416A	probably benign	Het
Six5	T	G	7: 18,830,932 (GRCm39)	S520A	probably benign	Het
Sox5	T	A	6: 143,779,118 (GRCm39)	I722F	possibly damaging	Het
Spag17	T	G	3: 99,966,158 (GRCm39)	I1147S	possibly damaging	Het
Spice1	C	T	16: 44,206,065 (GRCm39)	T842I	possibly damaging	Het
Ssbp2	A	G	13: 91,848,800 (GRCm39)	T358A	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tbc1d2b	C	A	9: 90,152,652 (GRCm39)	C38F	probably damaging	Het
Tecrl	C	A	5: 83,457,049 (GRCm39)		probably null	Het
Tgm7	T	C	2: 120,926,980 (GRCm39)	N390D	probably benign	Het
Thsd4	T	G	9: 59,894,649 (GRCm39)	M770L	probably benign	Het
Tmod2	C	A	9: 75,504,624 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,308,905 (GRCm39)		probably null	Het
Tox3	T	C	8: 90,984,507 (GRCm39)	N224S	probably benign	Het
Trappc10	C	T	10: 78,050,464 (GRCm39)	E326K	probably damaging	Het
Usp16	T	A	16: 87,276,542 (GRCm39)	F627I	probably benign	Het
Vcam1	T	C	3: 115,911,004 (GRCm39)	I465V	probably benign	Het
Vmn1r128	T	C	7: 21,083,683 (GRCm39)	I129T	possibly damaging	Het
Vmn1r217	T	A	13: 23,298,495 (GRCm39)	I136L	probably benign	Het
Vmn2r2	A	T	3: 64,044,802 (GRCm39)	C115S	probably damaging	Het
Vmn2r85	A	C	10: 130,265,350 (GRCm39)	S44R	probably benign	Het
Wasf3	T	A	5: 146,403,635 (GRCm39)	Y248*	probably null	Het
Yipf5	A	T	18: 40,343,851 (GRCm39)	L127M	probably damaging	Het
Zbp1	G	T	2: 173,050,933 (GRCm39)	C312*	probably null	Het
Zfp423	A	T	8: 88,508,742 (GRCm39)	F534Y	probably damaging	Het
Zfp69	T	G	4: 120,792,308 (GRCm39)	Y156S	probably damaging	Het
Zmat4	A	G	8: 24,419,226 (GRCm39)	N155S	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
R6274:Mmut	UTSW	17	41,267,136 (GRCm39)	missense	probably benign	0.00
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
RF021:Mmut	UTSW	17	41,262,649 (GRCm39)	missense	probably benign	0.01

Predicted Primers

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

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

Posted On

2022-02-07