Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Mmadhc'

20188

Institutional Source

Beutler Lab

Gene Symbol

Mmadhc

Ensembl Gene

ENSMUSG00000026766

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Synonyms

2010311D03Rik

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

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

Stock #

R0091 (G1)

Quality Score

170

Status

Validated (trace)

Chromosome

Chromosomal Location

50169893-50186813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50182869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 36 (S36P)

Ref Sequence

ENSEMBL: ENSMUSP00000122804 (fasta)

Gene Model

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

AlphaFold

Q99LS1

Predicted Effect

probably benign
Transcript: ENSMUST00000102769
AA Change: S36P

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: S36P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123699

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133768
AA Change: S36P

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: S36P

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: ENSMUST00000138528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140563

Predicted Effect

probably damaging
Transcript: ENSMUST00000144143
AA Change: S36P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: S36P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228816

Meta Mutation Damage Score

0.1630

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		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
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
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'- CCTGGTTCAGAGACTGTATGTCAGATGA -3'
(R):5'- cccaagcacacacCTGTGCAA -3'

Sequencing Primer
(F):5'- acatttttcttcaggtagcaacag -3'
(R):5'- gcacacacCTGTGCAATCATC -3'

Posted On

2013-04-11