Mutagenetix > Incidental Mutations

Incidental Mutation 'R3871:Aldh1a1'

276585

Institutional Source

Beutler Lab

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: 0.831) question?

Stock #

R3871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20492715-20643462 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 20624753 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 225 (Y225*)

Ref Sequence

ENSEMBL: ENSMUSP00000084918 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000087638
AA Change: Y225*

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: Y225*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225337

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bard1	T	C	1: 71,074,940	K294R	probably benign	Het
Bcap29	A	T	12: 31,617,081	S194T	probably benign	Het
Ccdc40	G	A	11: 119,264,281	V1116M	probably damaging	Het
Cntnap5a	A	G	1: 116,060,249	E170G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cyp2c54	T	C	19: 40,072,423	D92G	probably benign	Het
Dpp6	T	C	5: 27,469,465	F197L	probably benign	Het
Filip1l	G	T	16: 57,513,286	K147N	probably damaging	Het
Hrnr	T	A	3: 93,331,874	S3140T	unknown	Het
Igfn1	G	T	1: 135,968,836	H1331N	probably benign	Het
Kalrn	C	T	16: 34,203,856		probably null	Het
Kmt2d	TTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGC	15: 98,851,021		probably benign	Het
Mfng	A	G	15: 78,756,621	L308P	probably damaging	Het
Nt5e	C	A	9: 88,364,693	N327K	probably benign	Het
Olfr1025-ps1	T	G	2: 85,918,582		probably null	Het
Pgbd1	C	T	13: 21,434,370	R39H	possibly damaging	Het
Phactr4	T	C	4: 132,377,249	T256A	probably benign	Het
Rab24	T	C	13: 55,321,179	D63G	probably damaging	Het
Rubcnl	C	T	14: 75,040,916	P380L	probably benign	Het
Satb2	A	G	1: 56,891,220	S215P	probably damaging	Het
Serpina3b	A	T	12: 104,138,788	I408F	probably damaging	Het
Setx	A	G	2: 29,145,741	D746G	probably damaging	Het
Sf3a2	A	C	10: 80,804,693		probably benign	Het
Snx33	T	C	9: 56,926,740	N15S	probably benign	Het
Snx9	C	T	17: 5,891,781	P61L	probably benign	Het
Sult2a6	T	C	7: 14,254,776	K20E	probably benign	Het
Tas2r122	A	G	6: 132,711,580	S117P	probably benign	Het
Tmem26	G	A	10: 68,778,732	E326K	probably benign	Het
Tnpo2	T	A	8: 85,054,751	C789S	probably null	Het
Togaram1	A	C	12: 65,002,645	E1285D	probably benign	Het
Ubxn7	T	A	16: 32,381,430	S335T	possibly damaging	Het
Unc119b	G	A	5: 115,130,508	T106M	probably damaging	Het
Usp14	A	G	18: 10,002,370	S314P	possibly damaging	Het
Usp32	T	C	11: 85,081,156	D129G	probably null	Het

Other mutations in Aldh1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Aldh1a1	APN	19	20619997	missense	probably benign	0.13
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
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

Predicted Primers

PCR Primer
(F):5'- CCCCTTTGAGTACGTCTTCATATAAAC -3'
(R):5'- GCAACAGGTATCTTCTTTGATCC -3'

Sequencing Primer
(F):5'- GTTTCAGTAACGTACCCAA -3'
(R):5'- GATCCTAAATTCATCCAGCTGTG -3'

Posted On

2015-04-06