Mutagenetix > Incidental Mutations

Incidental Mutation 'R4447:Aldh6a1'

328810

Institutional Source

Beutler Lab

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

MMRRC Submission

041708-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84430717-84451004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84439709 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000152269 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085192
AA Change: V145A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: V145A

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

possibly damaging
Transcript: ENSMUST00000220491
AA Change: V120A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000221969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222656

Meta Mutation Damage Score

0.1341

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,198	T603A	probably benign	Het
3930402G23Rik	T	A	8: 10,926,129		noncoding transcript	Het
Acsf2	G	T	11: 94,569,359	P389Q	possibly damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Ankar	A	G	1: 72,687,789	S415P	possibly damaging	Het
Ano3	A	T	2: 110,761,578		probably null	Het
Asic4	A	T	1: 75,470,370		probably benign	Het
Atp1a4	A	C	1: 172,234,431	I709S	probably damaging	Het
Cyp11b2	T	C	15: 74,855,563	I90V	probably benign	Het
Fam129a	A	T	1: 151,636,402		probably null	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Iqcm	T	C	8: 75,629,766	S176P	probably damaging	Het
Irf5	T	A	6: 29,535,942	D318E	probably damaging	Het
Map2k3	A	T	11: 60,947,171	S253C	probably damaging	Het
Mgst1	G	T	6: 138,141,664		probably benign	Het
Mipol1	G	T	12: 57,352,748		probably benign	Het
Olfr371	T	A	8: 85,231,366	Y290*	probably null	Het
Pomgnt1	G	T	4: 116,152,923	V161L	possibly damaging	Het
Rnpc3	T	C	3: 113,611,137		probably benign	Het
Rxfp1	C	T	3: 79,652,127		probably benign	Het
Scn5a	T	C	9: 119,550,627	D197G	probably damaging	Het
Thsd7a	G	A	6: 12,324,635	T1479I	probably damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Ubqln3	C	T	7: 104,142,814	R23Q	probably benign	Het
Vmn1r228	T	C	17: 20,777,107	I50V	probably damaging	Het
Wnk4	T	A	11: 101,268,451	S565T	possibly damaging	Het
Wwc2	A	G	8: 47,868,667	Y471H	unknown	Het
Zfp407	A	T	18: 84,562,694	V98D	possibly damaging	Het
Zfp598	T	A	17: 24,676,555	V73E	probably damaging	Het
Zscan29	T	A	2: 121,169,886		probably null	Het

Other mutations in Aldh6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Aldh6a1	APN	12	84439538	missense	probably damaging	1.00
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
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
R8511:Aldh6a1	UTSW	12	84433971	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCGCTCTGATGGTTTCATTAGGAAAG -3'
(R):5'- GCAATATTGGTCAGGTACTTTTGAGAC -3'

Sequencing Primer
(F):5'- GTATTTCCACAAACCATAGCCATG -3'
(R):5'- AGGACAAATCGCTGTCAG -3'

Posted On

2015-07-21