Mutagenetix > Incidental Mutation

Incidental Mutation 'R5355:Mmadhc'

424018

Institutional Source

Beutler Lab

Gene Symbol

Mmadhc

Ensembl Gene

ENSMUSG00000026766

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Synonyms

2010311D03Rik

MMRRC Submission

042934-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R5355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50169893-50186813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50181436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 78 (I78T)

Ref Sequence

ENSEMBL: ENSMUSP00000099830 (fasta)

Gene Model

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

AlphaFold

Q99LS1

Predicted Effect

probably benign
Transcript: ENSMUST00000102769
AA Change: I78T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: I78T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133768
AA Change: I78T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: I78T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140563

Predicted Effect

probably benign
Transcript: ENSMUST00000144143
AA Change: I78T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: I78T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154254

Meta Mutation Damage Score

0.3432

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

94% (50/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,776,873 (GRCm39)	L857P	probably damaging	Het
Adam12	T	C	7: 133,489,671 (GRCm39)	*582W	probably null	Het
Adra1d	A	G	2: 131,403,007 (GRCm39)	V361A	probably damaging	Het
Ank2	A	G	3: 126,737,698 (GRCm39)		probably benign	Het
Atxn10	T	A	15: 85,346,515 (GRCm39)	N424K	probably damaging	Het
C8b	A	G	4: 104,637,860 (GRCm39)	T111A	probably benign	Het
Ccdc168	A	C	1: 44,097,139 (GRCm39)	C1320G	possibly damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdr2l	T	C	11: 115,284,396 (GRCm39)	V244A	possibly damaging	Het
Col11a2	A	G	17: 34,270,775 (GRCm39)	M468V	probably benign	Het
Col4a2	G	A	8: 11,495,984 (GRCm39)	R1535H	probably damaging	Het
Cryab	A	T	9: 50,664,751 (GRCm39)	S59C	probably damaging	Het
Cuzd1	G	A	7: 130,917,853 (GRCm39)	T249I	probably damaging	Het
Disp2	G	A	2: 118,617,392 (GRCm39)	V129M	probably benign	Het
Dlg2	G	T	7: 91,099,011 (GRCm39)	R31L	probably benign	Het
Dthd1	A	C	5: 62,996,730 (GRCm39)	L488F	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Fat2	T	G	11: 55,172,992 (GRCm39)	I2574L	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,231,247 (GRCm39)	D1610G	probably damaging	Het
Gm10330	T	A	12: 23,830,131 (GRCm39)	N17Y	probably damaging	Het
Gm4787	T	A	12: 81,424,239 (GRCm39)	R640*	probably null	Het
H2bc13	A	T	13: 21,900,030 (GRCm39)	I95N	probably damaging	Het
Ift88	T	A	14: 57,675,699 (GRCm39)	S71T	probably benign	Het
Isoc2b	A	G	7: 4,852,357 (GRCm39)		probably benign	Het
Itgb2	G	T	10: 77,393,886 (GRCm39)	R442L	probably benign	Het
Lama5	A	T	2: 179,823,444 (GRCm39)	N2658K	possibly damaging	Het
Lemd3	A	T	10: 120,769,538 (GRCm39)	I598K	probably damaging	Het
Lrp2	A	T	2: 69,285,182 (GRCm39)	C3825*	probably null	Het
Mep1a	T	C	17: 43,788,037 (GRCm39)	D673G	probably damaging	Het
Met	A	G	6: 17,491,361 (GRCm39)	Y41C	probably damaging	Het
Mfn2	A	G	4: 147,979,035 (GRCm39)	V99A	probably damaging	Het
Mmp9	C	A	2: 164,792,912 (GRCm39)	P389T	possibly damaging	Het
Mvk	T	G	5: 114,590,499 (GRCm39)	S7A	probably damaging	Het
Nlrp1a	T	A	11: 71,015,077 (GRCm39)	T58S	probably benign	Het
Nlrp1c-ps	C	A	11: 71,148,839 (GRCm39)		noncoding transcript	Het
Nr1h3	A	G	2: 91,022,253 (GRCm39)	I125T	possibly damaging	Het
Or2a55-ps1	C	T	6: 43,071,598 (GRCm39)		noncoding transcript	Het
Or8k39	A	T	2: 86,563,680 (GRCm39)	I92K	probably damaging	Het
Parn	A	G	16: 13,485,886 (GRCm39)	I3T	possibly damaging	Het
Parp8	A	G	13: 116,998,740 (GRCm39)		probably null	Het
Parva	T	C	7: 112,143,475 (GRCm39)		probably null	Het
Pwp2	A	C	10: 78,011,378 (GRCm39)	I672M	possibly damaging	Het
Sfswap	C	T	5: 129,616,810 (GRCm39)	T418I	probably benign	Het
Slc6a3	A	G	13: 73,709,078 (GRCm39)	Y334C	probably damaging	Het
Slc7a13	C	A	4: 19,839,267 (GRCm39)	T290K	probably benign	Het
Spry2	A	G	14: 106,130,712 (GRCm39)	L158P	probably damaging	Het
Usp25	A	G	16: 76,847,342 (GRCm39)	E150G	probably damaging	Het
Zfp747	A	G	7: 126,973,769 (GRCm39)	F134L	possibly damaging	Het
Zp3r	A	G	1: 130,524,518 (GRCm39)	F175S	probably benign	Het
Zscan22	C	A	7: 12,640,435 (GRCm39)	N67K	probably benign	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
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
R9623:Mmadhc	UTSW	2	50,186,341 (GRCm39)	start gained	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'- TGGAAAAGGCTGGTTATGCTGC -3'
(R):5'- ACTACAGCTCCCTGGTTTTG -3'

Sequencing Primer
(F):5'- AAAGGCTGGTTATGCTGCTTTTATAC -3'
(R):5'- ACAGCTCCCTGGTTTTGATTTTTG -3'

Posted On

2016-08-04