Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00916:Aldh1a1'

29498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh1a1

Ensembl Gene

ENSMUSG00000053279

Gene Name

aldehyde dehydrogenase family 1, subfamily A1

Synonyms

Ahd-2, Ahd2, ALDH1, Raldh1, E1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.818) question?

Stock #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

20492715-20643462 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20619997 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 114 (V114A)

Ref Sequence

ENSEMBL: ENSMUSP00000153011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087638] [ENSMUST00000225313] [ENSMUST00000225337]

Predicted Effect

probably benign
Transcript: ENSMUST00000087638
AA Change: V114A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: V114A

Domain	Start	End	E-Value	Type
Pfam:Aldedh	29	492	5.1e-185	PFAM
Pfam:LuxC	147	368	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225313
AA Change: V114A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000225337
AA Change: V114A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,852	Q762L	probably benign	Het
Ano4	T	C	10: 88,998,098	I459V	probably benign	Het
Atad5	C	T	11: 80,119,000	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,429,160	F43S	possibly damaging	Het
Cd96	T	C	16: 46,041,312	E505G	probably benign	Het
D17Wsu92e	A	G	17: 27,767,919	Y278H	probably damaging	Het
Eapp	T	C	12: 54,692,808	T75A	possibly damaging	Het
Emilin1	T	C	5: 30,913,902	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,562,655		probably benign	Het
Gucy2e	T	C	11: 69,223,097	I1089V	possibly damaging	Het
H6pd	C	A	4: 149,994,468		probably null	Het
Igsf10	A	T	3: 59,331,127	F544L	probably damaging	Het
Il23r	T	C	6: 67,473,931	Y188C	probably damaging	Het
Inpp5j	T	C	11: 3,502,389	E287G	probably damaging	Het
Lrp6	T	C	6: 134,484,289	D735G	probably damaging	Het
Mast2	A	T	4: 116,327,633	M240K	possibly damaging	Het
Mreg	T	A	1: 72,164,132	T96S	probably benign	Het
Mta2	A	T	19: 8,947,101	M220L	probably benign	Het
Mycbp2	A	G	14: 103,291,283		probably benign	Het
Naip2	T	A	13: 100,161,431	N699I	probably damaging	Het
Ncapg	T	G	5: 45,671,192	I95S	probably benign	Het
Ndufa13	A	G	8: 69,894,419		probably benign	Het
Nol10	T	A	12: 17,361,129		probably benign	Het
Parp8	T	A	13: 116,927,323	I85F	probably damaging	Het
Rgs2	T	A	1: 144,002,229	I78F	probably damaging	Het
Rpia	C	T	6: 70,775,102		probably benign	Het
Sec63	T	C	10: 42,812,457	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,520,678	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,453,549	I705R	probably damaging	Het
Ttf1	A	G	2: 29,070,042	N554S	probably benign	Het
Ulk1	A	G	5: 110,793,011	S351P	probably damaging	Het
Zp2	T	A	7: 120,138,174	N264Y	probably damaging	Het

Other mutations in Aldh1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Aldh1a1	APN	19	20642919	missense	probably benign	0.29
IGL02745:Aldh1a1	APN	19	20636664	splice site	probably benign
IGL02989:Aldh1a1	APN	19	20640058	splice site	probably benign
IGL03154:Aldh1a1	APN	19	20630768	missense	probably benign	0.21
LCD18:Aldh1a1	UTSW	19	20626646	intron	probably benign
R0265:Aldh1a1	UTSW	19	20640076	nonsense	probably null
R0282:Aldh1a1	UTSW	19	20629049	splice site	probably benign
R0418:Aldh1a1	UTSW	19	20629049	splice site	probably benign
R0471:Aldh1a1	UTSW	19	20602013	start codon destroyed	probably null	0.99
R0556:Aldh1a1	UTSW	19	20634478	missense	probably damaging	1.00
R0755:Aldh1a1	UTSW	19	20617994	missense	probably benign
R1164:Aldh1a1	UTSW	19	20617946	missense	probably benign	0.11
R1692:Aldh1a1	UTSW	19	20630818	missense	probably damaging	1.00
R1905:Aldh1a1	UTSW	19	20617998	missense	probably damaging	1.00
R2127:Aldh1a1	UTSW	19	20642915	missense	probably benign	0.00
R2281:Aldh1a1	UTSW	19	20620091	missense	possibly damaging	0.88
R2475:Aldh1a1	UTSW	19	20640078	missense	probably benign
R3871:Aldh1a1	UTSW	19	20624753	nonsense	probably null
R4607:Aldh1a1	UTSW	19	20621687	missense	probably benign	0.35
R4725:Aldh1a1	UTSW	19	20640081	missense	probably benign
R4791:Aldh1a1	UTSW	19	20619985	missense	probably damaging	0.99
R4792:Aldh1a1	UTSW	19	20619985	missense	probably damaging	0.99
R4844:Aldh1a1	UTSW	19	20634400	missense	probably benign	0.00
R5639:Aldh1a1	UTSW	19	20623422	missense	probably damaging	1.00
R5669:Aldh1a1	UTSW	19	20610920	missense	probably damaging	1.00
R5815:Aldh1a1	UTSW	19	20630670	missense	probably benign	0.00
R6387:Aldh1a1	UTSW	19	20617959	missense	probably damaging	0.99
R7078:Aldh1a1	UTSW	19	20602070	missense	probably benign
R7282:Aldh1a1	UTSW	19	20629070	missense	possibly damaging	0.68
R7334:Aldh1a1	UTSW	19	20621711	missense	probably damaging	1.00
R7578:Aldh1a1	UTSW	19	20618002	missense	probably damaging	0.98
R7920:Aldh1a1	UTSW	19	20617937	missense	probably damaging	1.00
R8745:Aldh1a1	UTSW	19	20634443	missense	probably benign
R8854:Aldh1a1	UTSW	19	20610933	nonsense	probably null

Posted On

2013-04-17