Mutagenetix > Incidental Mutation

Incidental Mutation 'R9623:Mmadhc'

724923

Institutional Source

Beutler Lab

Gene Symbol

Mmadhc

Ensembl Gene

ENSMUSG00000026766

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Synonyms

2010311D03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R9623 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50169893-50186813 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 50186341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000133768] [ENSMUST00000144143]

AlphaFold

Q99LS1

Predicted Effect

probably benign
Transcript: ENSMUST00000102769

SMART Domains

Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766

Domain	Start	End	E-Value	Type
Pfam:DUF2246	24	294	8.5e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133768

SMART Domains

Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766

Domain	Start	End	E-Value	Type
Pfam:DUF2246	20	179	1.8e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144143

SMART Domains

Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766

Domain	Start	End	E-Value	Type
Pfam:DUF2246	20	219	1.5e-84	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,181,975 (GRCm39)	Y408F	probably benign	Het
Adamts9	G	T	6: 92,857,661 (GRCm39)	P876T	probably benign	Het
Afap1l2	T	A	19: 56,906,462 (GRCm39)	D479V	probably damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ampd3	A	G	7: 110,402,307 (GRCm39)	E428G	probably damaging	Het
Apaf1	A	T	10: 90,913,463 (GRCm39)	Y153*	probably null	Het
Arhgap10	T	C	8: 77,985,786 (GRCm39)	T694A	probably benign	Het
Arhgef39	A	G	4: 43,496,819 (GRCm39)		probably null	Het
Arhgef5	T	C	6: 43,251,736 (GRCm39)	V829A	possibly damaging	Het
Arrdc4	A	G	7: 68,390,741 (GRCm39)	M333T		Het
Boc	G	T	16: 44,322,018 (GRCm39)	R215S		Het
Capn2	G	A	1: 182,344,795 (GRCm39)	A42V	probably benign	Het
Ccdc136	T	A	6: 29,405,939 (GRCm39)	M95K	probably benign	Het
Ccdc183	A	T	2: 25,499,520 (GRCm39)	Y438N	probably benign	Het
Ccnf	C	A	17: 24,468,367 (GRCm39)	R10M	probably damaging	Het
Cd19	A	G	7: 126,011,284 (GRCm39)	F300S	probably damaging	Het
Cdkl3	G	T	11: 51,895,816 (GRCm39)	C21F	probably damaging	Het
Celf2	C	T	2: 6,620,522 (GRCm39)	R183Q	probably damaging	Het
Clca3a1	T	G	3: 144,719,698 (GRCm39)	D424A	probably benign	Het
Clec3a	A	G	8: 115,144,887 (GRCm39)	D21G	probably benign	Het
Clec4e	T	C	6: 123,263,306 (GRCm39)	N78S	probably benign	Het
Clpb	A	T	7: 101,313,399 (GRCm39)	S128C	possibly damaging	Het
Cntnap5a	T	A	1: 116,369,985 (GRCm39)	Y867*	probably null	Het
Dgkg	G	C	16: 22,385,194 (GRCm39)	N437K		Het
Dnhd1	A	G	7: 105,335,773 (GRCm39)	E1139G	probably damaging	Het
Dnhd1	G	A	7: 105,344,134 (GRCm39)	R1826H	probably damaging	Het
Etl4	A	G	2: 20,811,052 (GRCm39)	H1413R		Het
Fibp	T	A	19: 5,513,850 (GRCm39)	V271D	possibly damaging	Het
Gabra4	G	T	5: 71,791,023 (GRCm39)	T273K	probably damaging	Het
Gan	G	A	8: 117,914,219 (GRCm39)	D206N	probably damaging	Het
Gstz1	A	T	12: 87,206,923 (GRCm39)	I106F	probably damaging	Het
Hivep2	T	G	10: 14,006,546 (GRCm39)	L1048R	probably damaging	Het
Htr6	A	T	4: 138,801,750 (GRCm39)	M108K	probably damaging	Het
Hycc1	A	C	5: 24,170,255 (GRCm39)	S365A	probably benign	Het
Itgad	A	G	7: 127,803,723 (GRCm39)	E1134G	probably damaging	Het
Lrp1b	C	T	2: 41,366,648 (GRCm39)	G657S		Het
Lrp2	T	C	2: 69,307,423 (GRCm39)	I2879V	probably benign	Het
Lyst	G	T	13: 13,852,587 (GRCm39)	V2196L	probably benign	Het
Mettl5	T	A	2: 69,711,717 (GRCm39)	I50F	possibly damaging	Het
Msantd1	G	A	5: 35,075,076 (GRCm39)	W46*	probably null	Het
Mto1	T	C	9: 78,364,712 (GRCm39)	I317T	probably damaging	Het
Myef2	T	G	2: 124,957,377 (GRCm39)	D126A	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nnmt	A	T	9: 48,503,660 (GRCm39)	M122K	probably benign	Het
Nos1	A	G	5: 118,087,849 (GRCm39)	K1371E	probably benign	Het
Nrcam	G	C	12: 44,636,931 (GRCm39)	W1121C	probably damaging	Het
Nt5c2	A	G	19: 46,877,409 (GRCm39)	S511P		Het
Or10w1	C	A	19: 13,632,414 (GRCm39)	A207E	probably damaging	Het
Or1j17	G	T	2: 36,578,778 (GRCm39)	V255F	probably benign	Het
Or2k2	T	C	4: 58,785,585 (GRCm39)	I46V	possibly damaging	Het
Or4a73	A	G	2: 89,421,261 (GRCm39)	F66S	probably benign	Het
P2rx7	A	G	5: 122,790,860 (GRCm39)	K66E	probably damaging	Het
Paqr4	A	G	17: 23,956,656 (GRCm39)	W236R	probably damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Pcbp2	T	C	15: 102,392,628 (GRCm39)	Y178H	probably damaging	Het
Pidd1	G	A	7: 141,021,678 (GRCm39)	P261S	probably damaging	Het
Pik3r6	T	C	11: 68,442,159 (GRCm39)	V705A	possibly damaging	Het
Pla2g15	G	T	8: 106,887,275 (GRCm39)	V156F	possibly damaging	Het
Prpf6	G	A	2: 181,289,137 (GRCm39)	V609M	possibly damaging	Het
Resf1	A	G	6: 149,226,965 (GRCm39)	N4D	possibly damaging	Het
Rprd2	A	G	3: 95,679,505 (GRCm39)	V491A	probably benign	Het
Rtp3	T	A	9: 110,818,600 (GRCm39)	H27L	probably damaging	Het
Sema5b	G	A	16: 35,443,121 (GRCm39)	R42Q	possibly damaging	Het
Serpina3f	A	G	12: 104,183,743 (GRCm39)	K202E	probably damaging	Het
Slc25a33	T	G	4: 149,833,767 (GRCm39)	M168L	probably benign	Het
Slc7a8	A	G	14: 54,964,341 (GRCm39)	C371R	probably damaging	Het
Smyd1	T	C	6: 71,192,808 (GRCm39)	N467S	probably benign	Het
Sptbn4	A	G	7: 27,107,807 (GRCm39)	W872R	probably damaging	Het
Syne1	A	T	10: 5,152,009 (GRCm39)	I5766N	probably damaging	Het
Syne2	A	G	12: 75,986,760 (GRCm39)	S1699G	probably benign	Het
Synpo2	T	C	3: 122,908,047 (GRCm39)	D423G	possibly damaging	Het
Tcf19	A	T	17: 35,825,792 (GRCm39)	F122I	probably damaging	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Trappc8	T	A	18: 20,983,975 (GRCm39)	H681L	possibly damaging	Het
Trim36	A	G	18: 46,308,623 (GRCm39)	F413S	probably benign	Het
Tsks	A	G	7: 44,605,931 (GRCm39)	T466A	possibly damaging	Het
Ubr1	T	C	2: 120,764,820 (GRCm39)	I545V	probably benign	Het
Ubr4	A	G	4: 139,159,024 (GRCm39)	E1170G	probably benign	Het
Usp29	A	G	7: 6,964,396 (GRCm39)	R80G	possibly damaging	Het
Utrn	C	T	10: 12,282,225 (GRCm39)	R3258H	probably damaging	Het
Vmn1r13	T	G	6: 57,187,549 (GRCm39)	V236G	probably benign	Het
Vmn1r33	T	A	6: 66,589,002 (GRCm39)	D184V	probably damaging	Het
Vmn2r87	T	C	10: 130,315,794 (GRCm39)	N91D	probably damaging	Het
Wrn	A	G	8: 33,774,644 (GRCm39)		probably null	Het
Zan	G	A	5: 137,461,636 (GRCm39)	P1181L	unknown	Het
Zbtb47	C	A	9: 121,591,990 (GRCm39)	Y103*	probably null	Het
Zfc3h1	C	A	10: 115,259,362 (GRCm39)	L1645I	possibly damaging	Het
Zfhx2	G	T	14: 55,302,191 (GRCm39)	P1931Q	probably damaging	Het
Zfp352	A	G	4: 90,113,128 (GRCm39)	K423E	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp7	G	A	15: 76,774,531 (GRCm39)	R191H	probably benign	Het
Zfp771	A	T	7: 126,844,301 (GRCm39)	K46*	probably null	Het
Zkscan8	T	C	13: 21,704,763 (GRCm39)	E392G	probably damaging	Het

Other mutations in Mmadhc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Mmadhc	APN	2	50,179,043 (GRCm39)	missense	probably benign
IGL01732:Mmadhc	APN	2	50,171,197 (GRCm39)	missense	probably damaging	1.00
IGL02397:Mmadhc	APN	2	50,178,992 (GRCm39)	missense	possibly damaging	0.82
R0091:Mmadhc	UTSW	2	50,182,869 (GRCm39)	missense	probably damaging	1.00
R0458:Mmadhc	UTSW	2	50,171,173 (GRCm39)	missense	probably benign	0.01
R0573:Mmadhc	UTSW	2	50,182,847 (GRCm39)	missense	possibly damaging	0.79
R1613:Mmadhc	UTSW	2	50,170,338 (GRCm39)	missense	probably damaging	1.00
R2189:Mmadhc	UTSW	2	50,178,958 (GRCm39)	missense	probably damaging	1.00
R4092:Mmadhc	UTSW	2	50,177,895 (GRCm39)	missense	probably benign
R4214:Mmadhc	UTSW	2	50,181,344 (GRCm39)	missense	probably benign
R4498:Mmadhc	UTSW	2	50,170,236 (GRCm39)	missense	probably benign	0.25
R5355:Mmadhc	UTSW	2	50,181,436 (GRCm39)	missense	probably benign	0.18
R5961:Mmadhc	UTSW	2	50,181,421 (GRCm39)	missense	probably damaging	1.00
R7343:Mmadhc	UTSW	2	50,181,457 (GRCm39)	missense	probably damaging	1.00
R9402:Mmadhc	UTSW	2	50,171,119 (GRCm39)	missense	probably benign
R9633:Mmadhc	UTSW	2	50,178,988 (GRCm39)	missense	probably benign	0.31
R9647:Mmadhc	UTSW	2	50,186,482 (GRCm39)	start gained	probably benign
X0018:Mmadhc	UTSW	2	50,177,929 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CGCACCCGAATTTAATAGAATGTG -3'
(R):5'- TGACTGGTACGGATGGTTCC -3'

Sequencing Primer
(F):5'- CCCGAATTTAATAGAATGTGCTCAAC -3'
(R):5'- TTCTGCACACTCACGGGTGAC -3'

Posted On

2022-09-12