Mutagenetix > Incidental Mutation

Incidental Mutation 'R4801:Mut'

370428

Institutional Source

Beutler Lab

Gene Symbol

Mut

Ensembl Gene

ENSMUSG00000023921

Gene Name

methylmalonyl-Coenzyme A mutase

Synonyms

MMRRC Submission

042423-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40934685-40961989 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40937351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 90 (T90A)

Ref Sequence

ENSEMBL: ENSMUSP00000130941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087114] [ENSMUST00000169611]

AlphaFold

P16332

Predicted Effect

probably benign
Transcript: ENSMUST00000087114

SMART Domains

Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919

Domain	Start	End	E-Value	Type
Pfam:CENP-Q	118	268	7.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169611
AA Change: T90A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: T90A

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

0.1169

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 164 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,983,926 (GRCm38)		probably null	Het
Aadacl3	A	G	4: 144,456,232 (GRCm38)	I222T	probably damaging	Het
Abca13	G	T	11: 9,522,341 (GRCm38)	G4249V	possibly damaging	Het
Abcb10	A	G	8: 123,966,527 (GRCm38)	V346A	probably benign	Het
Abcc2	A	T	19: 43,819,361 (GRCm38)	I814F	probably damaging	Het
AF366264	T	A	8: 13,836,970 (GRCm38)	I374F	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Ankrd28	A	C	14: 31,736,830 (GRCm38)	D335E	probably damaging	Het
Ankrd44	T	C	1: 54,762,316 (GRCm38)	H284R	probably damaging	Het
Arfgef3	G	T	10: 18,591,906 (GRCm38)	Q1849K	probably benign	Het
Atp2c2	T	C	8: 119,747,687 (GRCm38)	M490T	probably damaging	Het
Bach1	T	A	16: 87,722,452 (GRCm38)	D543E	probably damaging	Het
Bahcc1	G	A	11: 120,282,225 (GRCm38)	V1558I	probably benign	Het
Bbs5	T	A	2: 69,655,614 (GRCm38)	W168R	probably damaging	Het
Bcar3	A	T	3: 122,529,594 (GRCm38)	D766V	probably benign	Het
C1ra	A	G	6: 124,513,768 (GRCm38)	D40G	probably benign	Het
Ccdc138	G	A	10: 58,573,643 (GRCm38)	C598Y	probably damaging	Het
Cd200r3	T	A	16: 44,957,825 (GRCm38)	N197K	possibly damaging	Het
Cenpf	T	A	1: 189,651,220 (GRCm38)	E2634D	probably damaging	Het
Cisd2	T	C	3: 135,411,141 (GRCm38)	K63R	probably damaging	Het
Clca3a2	A	T	3: 144,807,351 (GRCm38)	S478T	possibly damaging	Het
Clptm1l	T	C	13: 73,607,862 (GRCm38)	M199T	possibly damaging	Het
Cntnap4	T	A	8: 112,773,590 (GRCm38)	S505T	possibly damaging	Het
Cr2	C	T	1: 195,163,311 (GRCm38)	G112D	probably damaging	Het
Crb2	T	A	2: 37,793,756 (GRCm38)	I1090N	probably benign	Het
Csmd3	G	T	15: 47,621,292 (GRCm38)	P3057Q	probably damaging	Het
Ctso	G	A	3: 81,954,240 (GRCm38)	V307I	probably damaging	Het
Cyp3a41b	T	A	5: 145,573,651 (GRCm38)	T138S	probably benign	Het
Dctn3	G	T	4: 41,719,904 (GRCm38)	Y67*	probably null	Het
Dennd4c	C	A	4: 86,819,884 (GRCm38)	Y918*	probably null	Het
Dlg5	C	T	14: 24,154,689 (GRCm38)	G1262D	probably damaging	Het
Dnaaf1	G	A	8: 119,577,361 (GRCm38)	G46D	probably benign	Het
Dnah6	A	G	6: 73,089,698 (GRCm38)	V2563A	probably damaging	Het
Dnajc13	A	G	9: 104,175,727 (GRCm38)	Y1679H	probably benign	Het
Eif2ak3	T	C	6: 70,887,893 (GRCm38)	Y578H	probably benign	Het
Endod1	C	T	9: 14,357,023 (GRCm38)	V389M	probably benign	Het
Ephb4	T	C	5: 137,365,506 (GRCm38)	L582P	probably damaging	Het
Eps15	T	C	4: 109,324,217 (GRCm38)	L316S	possibly damaging	Het
Erbb4	G	T	1: 68,330,246 (GRCm38)	T412K	probably damaging	Het
Fam117a	T	A	11: 95,364,070 (GRCm38)	F90I	probably damaging	Het
Fam187b	T	G	7: 30,977,090 (GRCm38)	V8G	possibly damaging	Het
Fam84b	C	A	15: 60,823,944 (GRCm38)		probably benign	Het
Far1	T	A	7: 113,539,453 (GRCm38)	I59N	possibly damaging	Het
Fbxo34	T	A	14: 47,530,869 (GRCm38)	L562Q	probably damaging	Het
Frem1	T	A	4: 82,916,628 (GRCm38)		probably benign	Het
Gfra3	G	T	18: 34,720,192 (GRCm38)	P10Q	probably damaging	Het
Gm10698	A	G	9: 33,728,772 (GRCm38)		noncoding transcript	Het
Gm11487	C	T	4: 73,401,267 (GRCm38)	W80*	probably null	Het
Gm19965	T	A	1: 116,821,896 (GRCm38)	Y436N	probably benign	Het
Gm21818	T	A	13: 120,173,222 (GRCm38)	S13R	probably benign	Het
Gm5767	A	G	16: 8,683,345 (GRCm38)	T22A	unknown	Het
Gm5799	A	T	14: 43,544,548 (GRCm38)	H59L	probably damaging	Het
Gmppb	T	A	9: 108,050,217 (GRCm38)	V121E	probably benign	Het
Ighv7-4	G	C	12: 114,223,279 (GRCm38)		probably benign	Het
Ipo4	A	G	14: 55,631,214 (GRCm38)	S446P	probably damaging	Het
Itpr2	T	C	6: 146,371,331 (GRCm38)	T855A	probably damaging	Het
Jaml	T	C	9: 45,101,064 (GRCm38)	I283T	possibly damaging	Het
Kcnn2	T	C	18: 45,685,267 (GRCm38)		probably benign	Het
Klhl32	T	C	4: 24,649,698 (GRCm38)	Y399C	possibly damaging	Het
Lrriq1	G	A	10: 103,221,318 (GRCm38)	T207I	probably benign	Het
Lrriq3	A	T	3: 155,187,970 (GRCm38)	H436L	probably benign	Het
Mad2l1bp	T	C	17: 46,148,263 (GRCm38)	K114E	possibly damaging	Het
Mamstr	T	C	7: 45,642,418 (GRCm38)	V64A	possibly damaging	Het
Map4	T	A	9: 110,035,257 (GRCm38)	S517T	probably benign	Het
Matn1	A	T	4: 130,950,025 (GRCm38)	I182F	possibly damaging	Het
Mcm3	A	G	1: 20,810,156 (GRCm38)	I484T	probably damaging	Het
Med13	T	A	11: 86,278,773 (GRCm38)	I1922F	probably damaging	Het
Metap2	A	G	10: 93,868,895 (GRCm38)	V137A	probably damaging	Het
Mex3d	A	G	10: 80,386,954 (GRCm38)	V156A	possibly damaging	Het
Mfsd6	G	A	1: 52,709,596 (GRCm38)	P37S	probably benign	Het
Mkl1	T	C	15: 81,104,799 (GRCm38)	E7G	probably benign	Het
Mrgprx1	A	C	7: 48,021,211 (GRCm38)	S263A	possibly damaging	Het
Msl1	C	T	11: 98,803,969 (GRCm38)	R505*	probably null	Het
Mta2	T	C	19: 8,945,851 (GRCm38)	S96P	probably damaging	Het
Mtr	A	T	13: 12,195,251 (GRCm38)	N986K	probably benign	Het
Mutyh	C	T	4: 116,817,029 (GRCm38)	T259I	probably benign	Het
Myof	T	C	19: 37,945,738 (GRCm38)	T908A	probably benign	Het
Nav2	A	T	7: 49,545,852 (GRCm38)	D992V	possibly damaging	Het
Neb	T	C	2: 52,200,703 (GRCm38)	T1352A	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247 (GRCm38)		probably null	Het
Nudt6	G	A	3: 37,405,354 (GRCm38)	R161C	probably benign	Het
Olfr1122	T	A	2: 87,388,209 (GRCm38)	V168E	probably benign	Het
Olfr1173	T	A	2: 88,274,879 (GRCm38)	M57L	probably damaging	Het
Olfr125	T	C	17: 37,835,349 (GRCm38)	Y117H	probably damaging	Het
Olfr1276	T	A	2: 111,257,152 (GRCm38)	F12L	probably damaging	Het
Olfr1411	T	A	1: 92,596,998 (GRCm38)	C160S	probably benign	Het
Olfr154	T	A	2: 85,664,278 (GRCm38)	D52V	probably damaging	Het
Olfr23	T	A	11: 73,940,870 (GRCm38)	I208K	possibly damaging	Het
Olfr319	T	C	11: 58,701,791 (GRCm38)	V30A	probably benign	Het
Olfr456	A	T	6: 42,486,679 (GRCm38)	N171K	probably benign	Het
Olfr744	A	G	14: 50,619,022 (GRCm38)	T267A	probably benign	Het
Olfr959	T	G	9: 39,572,858 (GRCm38)	M134L	probably benign	Het
Olr1	A	G	6: 129,488,090 (GRCm38)	F141S	possibly damaging	Het
Oprl1	G	T	2: 181,719,253 (GRCm38)	M340I	probably benign	Het
Otogl	A	C	10: 107,901,336 (GRCm38)	C72W	probably damaging	Het
Pcdha11	T	A	18: 37,005,465 (GRCm38)	I49N	probably damaging	Het
Pcdha4	T	A	18: 36,953,955 (GRCm38)	L397*	probably null	Het
Pcdhb14	A	G	18: 37,448,278 (GRCm38)	S146G	probably benign	Het
Pclo	T	A	5: 14,675,815 (GRCm38)	H1562Q	unknown	Het
Pcsk9	T	C	4: 106,447,569 (GRCm38)	E434G	probably benign	Het
Phc2	A	G	4: 128,751,598 (GRCm38)	K833E	probably damaging	Het
Pja2	A	T	17: 64,292,862 (GRCm38)	S480R	probably damaging	Het
Pkd1	G	A	17: 24,578,096 (GRCm38)	G2493D	probably damaging	Het
Plk5	G	A	10: 80,359,304 (GRCm38)	V179M	possibly damaging	Het
Polr1a	G	A	6: 71,976,070 (GRCm38)	V1541I	probably benign	Het
Ppard	C	G	17: 28,286,374 (GRCm38)	R12G	unknown	Het
Ppp1r14a	A	G	7: 29,291,526 (GRCm38)	D73G	probably damaging	Het
Psd3	C	T	8: 68,121,148 (GRCm38)	R127H	probably benign	Het
Pten	G	T	19: 32,758,503 (GRCm38)	G20V	possibly damaging	Het
Ptprg	T	C	14: 11,554,233 (GRCm38)		probably benign	Het
Rad54l	T	C	4: 116,122,924 (GRCm38)	D21G	probably null	Het
Rgs14	T	C	13: 55,380,957 (GRCm38)	Y304H	probably damaging	Het
Rgs9	T	C	11: 109,240,868 (GRCm38)	K346R	probably damaging	Het
Rnf169	C	G	7: 99,926,446 (GRCm38)	G314A	probably damaging	Het
Rpgrip1l	T	A	8: 91,270,177 (GRCm38)	T692S	probably damaging	Het
Rtf1	T	C	2: 119,675,228 (GRCm38)	V54A	possibly damaging	Het
Rtn4	T	C	11: 29,708,660 (GRCm38)	V938A	probably benign	Het
Ryr2	T	A	13: 11,687,932 (GRCm38)	D2890V	probably damaging	Het
Ryr2	T	C	13: 11,708,227 (GRCm38)	T2509A	probably damaging	Het
Scel	A	C	14: 103,583,100 (GRCm38)	T348P	probably benign	Het
Scgb1b2	G	T	7: 31,291,573 (GRCm38)	L37I	possibly damaging	Het
Sdf4	A	G	4: 156,000,721 (GRCm38)	H171R	possibly damaging	Het
Sec31a	A	G	5: 100,393,363 (GRCm38)	V295A	probably damaging	Het
Setx	T	A	2: 29,146,373 (GRCm38)	S957T	probably benign	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Six5	A	G	7: 19,096,969 (GRCm38)	N507S	probably benign	Het
Slc12a7	T	C	13: 73,763,892 (GRCm38)		probably null	Het
Slc1a7	T	A	4: 107,993,040 (GRCm38)	V116E	probably damaging	Het
Slc22a1	A	G	17: 12,675,535 (GRCm38)	L42P	probably damaging	Het
Slc25a31	A	T	3: 40,721,545 (GRCm38)	I174F	probably damaging	Het
Slc31a2	A	T	4: 62,292,632 (GRCm38)	M3L	probably damaging	Het
Slco1a4	T	A	6: 141,845,497 (GRCm38)		probably benign	Het
Smcr8	C	T	11: 60,778,610 (GRCm38)		probably null	Het
Smg5	G	T	3: 88,355,692 (GRCm38)	E801*	probably null	Het
Smgc	C	A	15: 91,854,616 (GRCm38)	H492Q	probably benign	Het
Smyd4	G	T	11: 75,403,184 (GRCm38)	G694V	probably damaging	Het
Sorcs3	A	G	19: 48,398,744 (GRCm38)	T223A	possibly damaging	Het
Stab1	G	T	14: 31,141,371 (GRCm38)	C2119*	probably null	Het
Taar9	A	G	10: 24,108,843 (GRCm38)	I231T	probably damaging	Het
Tacr2	A	G	10: 62,261,548 (GRCm38)	Y269C	probably damaging	Het
Taf3	T	G	2: 9,951,123 (GRCm38)	K744N	possibly damaging	Het
Tenm4	T	A	7: 96,906,245 (GRCm38)	V2682E	probably damaging	Het
Tet1	A	C	10: 62,822,663 (GRCm38)	L1468R	probably damaging	Het
Tgds	T	C	14: 118,117,033 (GRCm38)		probably benign	Het
Tgfb2	A	T	1: 186,628,913 (GRCm38)	Y380*	probably null	Het
Tgm5	T	G	2: 121,052,472 (GRCm38)	K435Q	probably damaging	Het
Themis	A	G	10: 28,761,511 (GRCm38)	T204A	probably benign	Het
Tm4sf1	T	C	3: 57,294,679 (GRCm38)	Y37C	probably damaging	Het
Tnn	T	C	1: 160,145,033 (GRCm38)	N333S	possibly damaging	Het
Tppp2	A	G	14: 51,919,348 (GRCm38)	N61D	probably benign	Het
Treml2	A	G	17: 48,309,159 (GRCm38)	T276A	probably benign	Het
Trit1	T	C	4: 123,016,638 (GRCm38)	V10A	probably benign	Het
Uba1y	T	G	Y: 825,890 (GRCm38)		probably null	Het
Uqcc1	T	C	2: 155,858,106 (GRCm38)		probably benign	Het
Vcam1	C	G	3: 116,115,935 (GRCm38)	G581A	probably damaging	Het
Vmn1r16	G	A	6: 57,323,190 (GRCm38)	T149I	probably benign	Het
Vmn1r209	T	C	13: 22,805,656 (GRCm38)	D288G	probably damaging	Het
Vmn1r78	T	A	7: 12,152,964 (GRCm38)	Y167*	probably null	Het
Vmn2r103	T	A	17: 19,795,076 (GRCm38)	S493T	probably benign	Het
Vmn2r105	T	A	17: 20,227,294 (GRCm38)	M423L	probably benign	Het
Vps13c	T	C	9: 67,964,282 (GRCm38)	F3244L	probably damaging	Het
Zfp119b	A	T	17: 55,939,642 (GRCm38)	D149E	probably damaging	Het
Zfp345	T	C	2: 150,473,308 (GRCm38)	Y103C	possibly damaging	Het
Zmym6	C	T	4: 127,123,216 (GRCm38)	T930I	probably benign	Het

Other mutations in Mut

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Mut	APN	17	40,956,271 (GRCm38)	missense	probably damaging	0.99
IGL01666:Mut	APN	17	40,958,811 (GRCm38)	missense	probably damaging	1.00
IGL02141:Mut	APN	17	40,938,817 (GRCm38)	missense	possibly damaging	0.68
IGL02257:Mut	APN	17	40,938,734 (GRCm38)	missense	possibly damaging	0.78
IGL02538:Mut	APN	17	40,938,619 (GRCm38)	missense	probably damaging	1.00
mix	UTSW	17	40,941,383 (GRCm38)	missense	possibly damaging	0.66
mongrel	UTSW	17	40,938,731 (GRCm38)	missense	possibly damaging	0.77
R0115:Mut	UTSW	17	40,956,227 (GRCm38)	missense	probably damaging	1.00
R0381:Mut	UTSW	17	40,937,258 (GRCm38)	missense	probably benign	0.04
R0603:Mut	UTSW	17	40,947,166 (GRCm38)	missense	probably damaging	0.99
R0928:Mut	UTSW	17	40,937,283 (GRCm38)	missense	probably benign	0.24
R1292:Mut	UTSW	17	40,941,407 (GRCm38)	missense	probably damaging	1.00
R1452:Mut	UTSW	17	40,937,468 (GRCm38)	splice site	probably benign
R1460:Mut	UTSW	17	40,937,375 (GRCm38)	missense	probably damaging	1.00
R2044:Mut	UTSW	17	40,941,451 (GRCm38)	missense	probably benign	0.00
R2256:Mut	UTSW	17	40,956,319 (GRCm38)	missense	probably benign	0.02
R2448:Mut	UTSW	17	40,958,841 (GRCm38)	missense	probably damaging	0.96
R3113:Mut	UTSW	17	40,958,356 (GRCm38)	missense	probably damaging	1.00
R3176:Mut	UTSW	17	40,958,872 (GRCm38)	splice site	probably null
R3276:Mut	UTSW	17	40,958,872 (GRCm38)	splice site	probably null
R3894:Mut	UTSW	17	40,955,139 (GRCm38)	missense	probably damaging	0.97
R4624:Mut	UTSW	17	40,947,055 (GRCm38)	missense	probably damaging	1.00
R4802:Mut	UTSW	17	40,937,351 (GRCm38)	missense	probably benign	0.08
R5031:Mut	UTSW	17	40,938,827 (GRCm38)	missense	possibly damaging	0.96
R5394:Mut	UTSW	17	40,947,184 (GRCm38)	missense	probably benign	0.02
R5651:Mut	UTSW	17	40,947,111 (GRCm38)	missense	probably damaging	1.00
R6225:Mut	UTSW	17	40,938,731 (GRCm38)	missense	possibly damaging	0.77
R6274:Mut	UTSW	17	40,956,245 (GRCm38)	missense	probably benign	0.00
R7002:Mut	UTSW	17	40,941,383 (GRCm38)	missense	possibly damaging	0.66
R7141:Mut	UTSW	17	40,952,839 (GRCm38)	missense	possibly damaging	0.68
R7203:Mut	UTSW	17	40,938,673 (GRCm38)	missense	probably benign	0.06
R7868:Mut	UTSW	17	40,947,043 (GRCm38)	missense	probably damaging	1.00
R8050:Mut	UTSW	17	40,943,893 (GRCm38)	missense	probably benign	0.06
R8228:Mut	UTSW	17	40,937,328 (GRCm38)	missense	possibly damaging	0.92
R8904:Mut	UTSW	17	40,937,393 (GRCm38)	missense	probably damaging	1.00
R8977:Mut	UTSW	17	40,938,590 (GRCm38)	missense	probably benign
R9182:Mut	UTSW	17	40,941,419 (GRCm38)	missense	probably damaging	1.00
RF021:Mut	UTSW	17	40,951,758 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAAACGCCTTCTACACCAG -3'
(R):5'- GTTTCACAGCAAATTCAAGCAC -3'

Sequencing Primer
(F):5'- GCCTTCTACACCAGCAGCAAC -3'
(R):5'- GCACAAGATGAATGCCATATTTACAG -3'

Posted On

2016-02-04