Mutagenetix > Incidental Mutation

Incidental Mutation 'R7002:Mmut'

544634

Institutional Source

Beutler Lab

Gene Symbol

Mmut

Ensembl Gene

ENSMUSG00000023921

Gene Name

methylmalonyl-Coenzyme A mutase

Synonyms

D230010K02Rik, Mut

MMRRC Submission

045107-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41245576-41272879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41252274 bp (GRCm39)

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]

AlphaFold

P16332

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: 109,832,390 (GRCm39)	S1308P	probably damaging	Het
Abl2	A	T	1: 156,386,703 (GRCm39)	R29W	probably damaging	Het
Adam6b	C	A	12: 113,453,327 (GRCm39)	S48*	probably null	Het
Adamts18	T	A	8: 114,501,922 (GRCm39)	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,882,810 (GRCm39)	S229G	probably benign	Het
Apol10a	G	A	15: 77,369,046 (GRCm39)	R15H	possibly damaging	Het
Bend4	T	A	5: 67,555,602 (GRCm39)	T535S	probably benign	Het
Blm	T	C	7: 80,119,501 (GRCm39)	K1024R	probably benign	Het
Brca2	T	C	5: 150,463,383 (GRCm39)	V1049A	probably benign	Het
Cerk	T	C	15: 86,040,795 (GRCm39)	Y188C	possibly damaging	Het
Cic	C	T	7: 24,971,621 (GRCm39)	R451C	probably damaging	Het
Col18a1	A	T	10: 77,002,177 (GRCm39)	V10E	unknown	Het
Cplx1	T	A	5: 108,668,182 (GRCm39)	K58M	probably damaging	Het
Crybg1	T	A	10: 43,874,831 (GRCm39)	D759V	probably damaging	Het
Cwc25	A	T	11: 97,638,897 (GRCm39)	N342K	probably damaging	Het
Dab2	A	T	15: 6,464,846 (GRCm39)	T566S	probably benign	Het
Depdc5	G	A	5: 33,034,502 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,058,346 (GRCm39)	N408K	probably benign	Het
Dnah12	T	C	14: 26,598,955 (GRCm39)	I3631T	probably damaging	Het
Dnase1	A	G	16: 3,857,410 (GRCm39)	I236V	possibly damaging	Het
Duox1	C	T	2: 122,150,358 (GRCm39)	Q196*	probably null	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,508 (GRCm39)	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200 (GRCm39)	A1007V	probably benign	Het
Fsip2	T	A	2: 82,819,687 (GRCm39)	I5140N	possibly damaging	Het
Gan	T	C	8: 117,922,586 (GRCm39)	C440R	possibly damaging	Het
Garnl3	T	A	2: 32,944,205 (GRCm39)	H73L	possibly damaging	Het
Gid8	T	G	2: 180,355,096 (GRCm39)	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960 (GRCm39)	L39F	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427 (GRCm39)	S306P	probably damaging	Het
H2bc21	A	G	3: 96,128,689 (GRCm39)	I70V	probably benign	Het
Hdac4	T	G	1: 91,896,083 (GRCm39)	K729T	possibly damaging	Het
Igfbp2	C	T	1: 72,888,804 (GRCm39)	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,394,373 (GRCm39)	I13L	probably benign	Het
Il18r1	G	A	1: 40,514,013 (GRCm39)	S73N	probably benign	Het
Immt	T	C	6: 71,838,024 (GRCm39)	V244A	probably damaging	Het
Irs1	T	C	1: 82,265,981 (GRCm39)	Y745C	probably benign	Het
Itpr3	T	C	17: 27,329,554 (GRCm39)	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,526 (GRCm39)	I45K	probably damaging	Het
Lamp3	G	T	16: 19,474,172 (GRCm39)	Q401K	possibly damaging	Het
Lrrfip1	T	A	1: 91,043,180 (GRCm39)	H528Q	probably benign	Het
Ltn1	A	T	16: 87,220,361 (GRCm39)	D245E	probably benign	Het
Mnat1	T	C	12: 73,277,479 (GRCm39)		probably benign	Het
Mprip	A	C	11: 59,652,016 (GRCm39)	M1907L	probably benign	Het
Nfu1	C	A	6: 86,993,254 (GRCm39)	H131Q	probably benign	Het
Nup188	T	A	2: 30,213,580 (GRCm39)	S670R	probably damaging	Het
Or5b120	A	G	19: 13,480,039 (GRCm39)	N111D	probably benign	Het
Or8k40	T	C	2: 86,585,025 (GRCm39)	D19G	probably benign	Het
Pals2	C	T	6: 50,139,642 (GRCm39)	P116L	probably benign	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pbrm1	T	A	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Prss40	A	T	1: 34,591,481 (GRCm39)		probably null	Het
Rnf13	A	G	3: 57,741,033 (GRCm39)	N274S	probably damaging	Het
Rtl1	T	A	12: 109,560,381 (GRCm39)	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,025,263 (GRCm39)	H291L	possibly damaging	Het
Senp5	A	G	16: 31,802,593 (GRCm39)	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,804,550 (GRCm39)		probably null	Het
Serpina1e	T	C	12: 103,914,338 (GRCm39)	I329V	probably benign	Het
Slc10a4-ps	T	A	5: 72,743,763 (GRCm39)		probably null	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,773 (GRCm39)		unknown	Het
Smc5	A	G	19: 23,209,247 (GRCm39)	V639A	probably benign	Het
Speg	T	A	1: 75,399,912 (GRCm39)	V2453E	probably damaging	Het
Syt2	T	A	1: 134,671,842 (GRCm39)	F207I	probably damaging	Het
Tchp	C	T	5: 114,846,857 (GRCm39)	S48L	probably benign	Het
Trim12a	A	G	7: 103,953,383 (GRCm39)	S243P	possibly damaging	Het
Ttn	T	C	2: 76,628,561 (GRCm39)	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,084,819 (GRCm39)	M188K	probably benign	Het
Vps11	G	A	9: 44,266,376 (GRCm39)	T437I	probably damaging	Het
Xrn1	C	T	9: 95,929,843 (GRCm39)	T1498I	probably benign	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	Het
Zfp316	T	C	5: 143,249,110 (GRCm39)	D175G	unknown	Het
Zmynd11	A	G	13: 9,744,366 (GRCm39)	L256P	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
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'- GGGAATCCAATGTAACAAACGC -3'
(R):5'- TCACTAGAAAGATGGCATTACTCC -3'

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

Posted On

2019-05-13