Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Aldh6a1'

104446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

84430717-84451004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84439538 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 202 (C202Y)

Ref Sequence

ENSEMBL: ENSMUSP00000082288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085192] [ENSMUST00000220491]

Predicted Effect

probably damaging
Transcript: ENSMUST00000085192
AA Change: C202Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: C202Y

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	30	36	N/A	INTRINSIC
Pfam:Aldedh	48	512	1.9e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220491

Predicted Effect

probably benign
Transcript: ENSMUST00000221969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222656

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Aldh6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02213:Aldh6a1	APN	12	84432552	intron	probably benign
IGL02489:Aldh6a1	APN	12	84433972	missense	possibly damaging	0.66
IGL02806:Aldh6a1	APN	12	84439640	missense	probably damaging	1.00
IGL02930:Aldh6a1	APN	12	84433982	missense	possibly damaging	0.78
IGL03183:Aldh6a1	APN	12	84436440	splice site	probably null
PIT4378001:Aldh6a1	UTSW	12	84441872	missense	probably benign	0.01
R0015:Aldh6a1	UTSW	12	84441780	missense	probably damaging	1.00
R0506:Aldh6a1	UTSW	12	84433526	missense	probably damaging	1.00
R1458:Aldh6a1	UTSW	12	84439663	missense	probably null	0.01
R1468:Aldh6a1	UTSW	12	84441770	missense	possibly damaging	0.82
R1468:Aldh6a1	UTSW	12	84441770	missense	possibly damaging	0.82
R1579:Aldh6a1	UTSW	12	84441848	missense	possibly damaging	0.83
R2300:Aldh6a1	UTSW	12	84439529	missense	probably damaging	1.00
R4351:Aldh6a1	UTSW	12	84443761	missense	probably benign	0.00
R4447:Aldh6a1	UTSW	12	84439709	missense	possibly damaging	0.73
R5205:Aldh6a1	UTSW	12	84439644	missense	probably damaging	1.00
R5242:Aldh6a1	UTSW	12	84436383	missense	probably damaging	1.00
R5443:Aldh6a1	UTSW	12	84437971	splice site	probably null
R6849:Aldh6a1	UTSW	12	84443787	missense	probably benign	0.00
R7001:Aldh6a1	UTSW	12	84441888	missense	probably damaging	1.00
R7182:Aldh6a1	UTSW	12	84441831	missense	probably benign	0.19
R7417:Aldh6a1	UTSW	12	84441782	missense	probably benign	0.01
R7492:Aldh6a1	UTSW	12	84436866	missense	probably damaging	1.00
R7749:Aldh6a1	UTSW	12	84442081	missense	probably benign	0.00

Posted On

2014-01-21