Mutagenetix > Incidental Mutation

Incidental Mutation 'R8050:Mmut'

619030

Institutional Source

Beutler Lab

Gene Symbol

Mmut

Ensembl Gene

ENSMUSG00000023921

Gene Name

methylmalonyl-Coenzyme A mutase

Synonyms

D230010K02Rik, Mut

MMRRC Submission

067487-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41245576-41272879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41254784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 331 (I331K)

Ref Sequence

ENSEMBL: ENSMUSP00000130941 (fasta)

Gene Model

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

AlphaFold

P16332

Predicted Effect

probably benign
Transcript: ENSMUST00000169611
AA Change: I331K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: I331K

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: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,677 (GRCm39)	V194E	possibly damaging	Het
Adgrv1	T	C	13: 81,561,296 (GRCm39)	N5406S	probably damaging	Het
Arhgef38	T	A	3: 132,843,323 (GRCm39)	R416*	probably null	Het
Asb7	T	A	7: 66,328,932 (GRCm39)	Q36L	probably benign	Het
Bbof1	G	A	12: 84,457,991 (GRCm39)	M85I	probably benign	Het
Bin1	T	G	18: 32,539,198 (GRCm39)	F44V	probably damaging	Het
Bnc2	C	A	4: 84,210,573 (GRCm39)	V599L	probably benign	Het
Bnip3l	A	G	14: 67,226,651 (GRCm39)	S181P	probably damaging	Het
Btnl9	A	G	11: 49,066,442 (GRCm39)	L374P	probably benign	Het
Cd109	T	C	9: 78,571,633 (GRCm39)	I424T	probably benign	Het
Cdhr2	G	A	13: 54,882,035 (GRCm39)	V1162M	probably damaging	Het
Dgkb	G	A	12: 38,174,216 (GRCm39)	E181K	probably benign	Het
Dnase1	A	T	16: 3,855,861 (GRCm39)	D64V	probably damaging	Het
E130308A19Rik	T	C	4: 59,719,767 (GRCm39)	I433T	probably damaging	Het
Ecsit	C	T	9: 21,987,592 (GRCm39)	R149H	probably benign	Het
Eif1ad8	G	A	12: 87,563,911 (GRCm39)	R82Q	possibly damaging	Het
Enpep	A	T	3: 129,099,165 (GRCm39)	V437E	probably damaging	Het
Esrp1	A	T	4: 11,338,767 (GRCm39)	V679D	probably damaging	Het
Fa2h	T	A	8: 112,074,817 (GRCm39)		probably null	Het
Fabp1	G	A	6: 71,176,956 (GRCm39)	E16K	probably damaging	Het
Fstl5	T	A	3: 76,614,810 (GRCm39)	S624T	probably benign	Het
Gemin5	G	A	11: 58,019,686 (GRCm39)	R1128W	probably benign	Het
H2bc8	T	C	13: 23,755,841 (GRCm39)	S79P	probably damaging	Het
Hps3	T	C	3: 20,057,492 (GRCm39)	H896R	probably benign	Het
Hsf1	T	A	15: 76,382,481 (GRCm39)	I284K	probably benign	Het
Igkv3-2	T	A	6: 70,675,988 (GRCm39)	I99N	probably damaging	Het
Iqub	T	A	6: 24,503,784 (GRCm39)	I163F	possibly damaging	Het
Jak2	T	C	19: 29,275,732 (GRCm39)	I724T	probably damaging	Het
Kbtbd3	A	T	9: 4,330,408 (GRCm39)	T261S	probably benign	Het
Kctd20	G	T	17: 29,171,732 (GRCm39)		probably null	Het
Kif28	C	T	1: 179,537,014 (GRCm39)	V490M	probably benign	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Klhl18	T	C	9: 110,257,829 (GRCm39)	Y537C	probably damaging	Het
Myo5a	T	A	9: 75,089,228 (GRCm39)	S1119R	probably damaging	Het
Napepld	C	A	5: 21,870,319 (GRCm39)	E366D	probably benign	Het
Nbea	A	G	3: 55,895,402 (GRCm39)	V1540A	probably damaging	Het
Neb	T	A	2: 52,111,738 (GRCm39)	I130L	probably benign	Het
Opcml	T	C	9: 28,724,640 (GRCm39)	V146A	probably damaging	Het
Or2g7	T	C	17: 38,378,370 (GRCm39)	S103P	probably damaging	Het
Or2r11	A	T	6: 42,437,764 (GRCm39)	L63H	probably damaging	Het
Or7e178	C	T	9: 20,225,941 (GRCm39)	D92N	probably damaging	Het
Pappa2	A	C	1: 158,675,970 (GRCm39)	C925W	probably damaging	Het
Parp12	T	A	6: 39,066,038 (GRCm39)	N562Y	probably damaging	Het
Patj	C	A	4: 98,427,201 (GRCm39)	H1198Q	probably benign	Het
Pcyox1	T	A	6: 86,366,128 (GRCm39)	K362M	possibly damaging	Het
Pcyt2	T	C	11: 120,501,765 (GRCm39)	Y350C	probably benign	Het
Pkd1	A	T	17: 24,784,617 (GRCm39)	T388S	probably benign	Het
Prl3d1	T	A	13: 27,284,011 (GRCm39)	Y193*	probably null	Het
Psme1	A	T	14: 55,817,056 (GRCm39)	D15V	possibly damaging	Het
Qrsl1	G	A	10: 43,750,631 (GRCm39)	R476C	probably damaging	Het
Ranbp2	A	G	10: 58,315,441 (GRCm39)	N2054D	probably damaging	Het
Serpinb1c	T	A	13: 33,066,052 (GRCm39)	K298*	probably null	Het
Slc22a27	A	T	19: 7,857,532 (GRCm39)	M355K	probably benign	Het
Spp1	T	A	5: 104,588,280 (GRCm39)	H227Q	probably benign	Het
Stam2	T	A	2: 52,609,785 (GRCm39)	N75I	probably damaging	Het
Tacc1	T	C	8: 25,659,230 (GRCm39)	T579A	probably benign	Het
Tbx3	A	G	5: 119,821,132 (GRCm39)	D734G	probably benign	Het
Tmem233	G	T	5: 116,221,141 (GRCm39)	S35*	probably null	Het
Trim43c	A	T	9: 88,722,390 (GRCm39)	E12V	probably damaging	Het
Trio	A	G	15: 27,891,540 (GRCm39)	S463P	unknown	Het
Uggt2	A	T	14: 119,263,834 (GRCm39)	D1065E	probably damaging	Het
Usp1	A	G	4: 98,817,150 (GRCm39)	N114S	probably benign	Het
Usp34	A	G	11: 23,396,787 (GRCm39)	E2377G		Het
Virma	T	A	4: 11,528,643 (GRCm39)	H1243Q	probably benign	Het
Vmn2r3	A	T	3: 64,178,714 (GRCm39)	V517D	probably damaging	Het
Zfp931	T	C	2: 177,709,889 (GRCm39)	K166E	probably damaging	Het
Zp3	T	A	5: 136,011,604 (GRCm39)	Y141N	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
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'- ATCCCTATGTTAGCCTACGGTTAC -3'
(R):5'- TGAAAACATTTCCTTGCAGTGC -3'

Sequencing Primer
(F):5'- TGCTTGATATGGAAATCCGGAC -3'
(R):5'- CAGTGCCTGTTGCCTAGAAG -3'

Posted On

2020-01-23