Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Aldh1a1'

34893

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a1

Ensembl Gene

ENSMUSG00000053279

Gene Name

aldehyde dehydrogenase family 1, subfamily A1

Synonyms

Ahd-2, Ahd2, ALDH1, E1, Raldh1

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R0265 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20470079-20620829 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 20617440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 457 (Y457*)

Ref Sequence

ENSEMBL: ENSMUSP00000084918 (fasta)

Gene Model

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

AlphaFold

P24549

Predicted Effect

probably null
Transcript: ENSMUST00000087638
AA Change: Y457*

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: Y457*

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,822,850 (GRCm39)	I321V	probably benign	Het
Adcy7	A	G	8: 89,051,391 (GRCm39)	D837G	probably damaging	Het
Alox5	T	C	6: 116,397,323 (GRCm39)	Y287C	probably benign	Het
Ano8	T	C	8: 71,933,168 (GRCm39)		probably benign	Het
Ap3b1	A	G	13: 94,630,189 (GRCm39)	K815E	unknown	Het
Atp11a	A	T	8: 12,906,930 (GRCm39)		probably benign	Het
Atp6v0a1	A	T	11: 100,939,341 (GRCm39)	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,651,856 (GRCm39)	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,812,637 (GRCm39)	A39G	probably benign	Het
Cdhr1	A	T	14: 36,803,333 (GRCm39)	V581D	probably benign	Het
Cfap20dc	T	G	14: 8,431,667 (GRCm38)	Y655S	probably damaging	Het
Cyp2b23	A	G	7: 26,372,304 (GRCm39)		probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,330,048 (GRCm39)		probably benign	Het
Dnah8	A	T	17: 30,909,245 (GRCm39)	I1024F	probably benign	Het
Dync2i1	T	C	12: 116,221,026 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,634,621 (GRCm39)	F213I	probably damaging	Het
Edrf1	G	A	7: 133,258,774 (GRCm39)	D717N	probably damaging	Het
Efna5	G	A	17: 62,958,068 (GRCm39)	P63S	probably damaging	Het
Elapor2	T	C	5: 9,484,681 (GRCm39)	L486P	probably damaging	Het
Entpd3	A	G	9: 120,387,547 (GRCm39)	Y248C	probably damaging	Het
Flcn	G	A	11: 59,686,635 (GRCm39)	Q373*	probably null	Het
Fry	T	C	5: 150,358,241 (GRCm39)	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,031,365 (GRCm39)	Y58*	probably null	Het
Gabrp	A	T	11: 33,502,614 (GRCm39)	Y417N	probably damaging	Het
Golga2	C	A	2: 32,194,964 (GRCm39)		probably null	Het
Grip2	C	A	6: 91,750,773 (GRCm39)		probably null	Het
Gsx2	A	G	5: 75,237,729 (GRCm39)	Y227C	probably damaging	Het
H2ac1	T	C	13: 24,118,632 (GRCm39)	V63A	probably benign	Het
Hif3a	T	C	7: 16,769,793 (GRCm39)	*665W	probably null	Het
Hsd3b1	C	A	3: 98,760,089 (GRCm39)	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,529,921 (GRCm39)		probably benign	Het
Inpp4a	A	T	1: 37,418,067 (GRCm39)	D498V	probably damaging	Het
Itga1	A	T	13: 115,128,995 (GRCm39)	D554E	probably benign	Het
Itk	G	A	11: 46,280,285 (GRCm39)		probably benign	Het
Kdm3b	T	A	18: 34,928,716 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,766,984 (GRCm39)	V470A	probably benign	Het
Lamb3	T	A	1: 193,002,839 (GRCm39)	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,376,676 (GRCm39)	I41N	probably damaging	Het
Lrp4	A	T	2: 91,321,015 (GRCm39)	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,832,743 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,749,919 (GRCm39)	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,792,507 (GRCm39)		probably benign	Het
Mocos	A	G	18: 24,799,333 (GRCm39)	D189G	probably benign	Het
Mvb12a	T	A	8: 71,999,654 (GRCm39)	F224L	probably damaging	Het
Myo15a	A	T	11: 60,405,723 (GRCm39)		probably null	Het
Nos2	A	T	11: 78,828,428 (GRCm39)	H249L	probably damaging	Het
Notum	A	G	11: 120,549,160 (GRCm39)	M184T	probably benign	Het
Nvl	C	A	1: 180,962,395 (GRCm39)	D192Y	probably damaging	Het
Or10j3	A	G	1: 173,031,484 (GRCm39)	K187R	probably benign	Het
Or4f57	T	C	2: 111,790,839 (GRCm39)	Y193C	probably damaging	Het
Or5ac22	A	T	16: 59,135,434 (GRCm39)	F112Y	probably damaging	Het
Or5m12	T	A	2: 85,734,591 (GRCm39)	N269I	probably benign	Het
Or8k27	C	A	2: 86,276,303 (GRCm39)	V8L	probably benign	Het
Osgin1	A	G	8: 120,172,396 (GRCm39)	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,510 (GRCm39)	V123A	probably damaging	Het
P4ha1	A	G	10: 59,184,081 (GRCm39)	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,954,403 (GRCm39)	D559V	probably damaging	Het
Phf2	T	C	13: 48,982,270 (GRCm39)	N151S	unknown	Het
Plxnc1	C	A	10: 94,648,991 (GRCm39)	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,901,160 (GRCm39)	*338Q	probably null	Het
Raver1	A	G	9: 20,986,955 (GRCm39)	S676P	probably benign	Het
Rfx8	T	C	1: 39,727,737 (GRCm39)	E196G	possibly damaging	Het
Rreb1	A	T	13: 38,100,131 (GRCm39)	K187*	probably null	Het
Rxfp1	T	C	3: 79,574,961 (GRCm39)	T217A	probably benign	Het
Rxra	T	C	2: 27,642,442 (GRCm39)	L305P	probably damaging	Het
Sardh	T	C	2: 27,117,078 (GRCm39)		probably benign	Het
Skor2	A	T	18: 76,964,293 (GRCm39)	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,147,334 (GRCm39)	S343T	probably benign	Het
Sorbs2	T	C	8: 46,238,374 (GRCm39)		probably benign	Het
Supt7l	C	T	5: 31,673,262 (GRCm39)	V329I	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165 (GRCm39)		probably benign	Het
Tcn2	A	T	11: 3,872,044 (GRCm39)	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,347,582 (GRCm39)	A170T	possibly damaging	Het
Tnks	G	A	8: 35,307,124 (GRCm39)	R1142*	probably null	Het
Ttll7	C	A	3: 146,649,915 (GRCm39)	Y648*	probably null	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Upf2	G	A	2: 6,032,015 (GRCm39)		probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Washc5	A	G	15: 59,210,809 (GRCm39)	I1013T	probably benign	Het
Zfp704	C	A	3: 9,630,217 (GRCm39)	R48L	probably damaging	Het

Other mutations in Aldh1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Aldh1a1	APN	19	20,597,361 (GRCm39)	missense	probably benign	0.13
IGL01769:Aldh1a1	APN	19	20,620,283 (GRCm39)	missense	probably benign	0.29
IGL02745:Aldh1a1	APN	19	20,614,028 (GRCm39)	splice site	probably benign
IGL02989:Aldh1a1	APN	19	20,617,422 (GRCm39)	splice site	probably benign
IGL03154:Aldh1a1	APN	19	20,608,132 (GRCm39)	missense	probably benign	0.21
LCD18:Aldh1a1	UTSW	19	20,604,010 (GRCm39)	intron	probably benign
R0282:Aldh1a1	UTSW	19	20,606,413 (GRCm39)	splice site	probably benign
R0418:Aldh1a1	UTSW	19	20,606,413 (GRCm39)	splice site	probably benign
R0471:Aldh1a1	UTSW	19	20,579,377 (GRCm39)	start codon destroyed	probably null	0.99
R0556:Aldh1a1	UTSW	19	20,611,842 (GRCm39)	missense	probably damaging	1.00
R0755:Aldh1a1	UTSW	19	20,595,358 (GRCm39)	missense	probably benign
R1164:Aldh1a1	UTSW	19	20,595,310 (GRCm39)	missense	probably benign	0.11
R1692:Aldh1a1	UTSW	19	20,608,182 (GRCm39)	missense	probably damaging	1.00
R1905:Aldh1a1	UTSW	19	20,595,362 (GRCm39)	missense	probably damaging	1.00
R2127:Aldh1a1	UTSW	19	20,620,279 (GRCm39)	missense	probably benign	0.00
R2281:Aldh1a1	UTSW	19	20,597,455 (GRCm39)	missense	possibly damaging	0.88
R2475:Aldh1a1	UTSW	19	20,617,442 (GRCm39)	missense	probably benign
R3871:Aldh1a1	UTSW	19	20,602,117 (GRCm39)	nonsense	probably null
R4607:Aldh1a1	UTSW	19	20,599,051 (GRCm39)	missense	probably benign	0.35
R4725:Aldh1a1	UTSW	19	20,617,445 (GRCm39)	missense	probably benign
R4791:Aldh1a1	UTSW	19	20,597,349 (GRCm39)	missense	probably damaging	0.99
R4792:Aldh1a1	UTSW	19	20,597,349 (GRCm39)	missense	probably damaging	0.99
R4844:Aldh1a1	UTSW	19	20,611,764 (GRCm39)	missense	probably benign	0.00
R5639:Aldh1a1	UTSW	19	20,600,786 (GRCm39)	missense	probably damaging	1.00
R5669:Aldh1a1	UTSW	19	20,588,284 (GRCm39)	missense	probably damaging	1.00
R5815:Aldh1a1	UTSW	19	20,608,034 (GRCm39)	missense	probably benign	0.00
R6387:Aldh1a1	UTSW	19	20,595,323 (GRCm39)	missense	probably damaging	0.99
R7078:Aldh1a1	UTSW	19	20,579,434 (GRCm39)	missense	probably benign
R7282:Aldh1a1	UTSW	19	20,606,434 (GRCm39)	missense	possibly damaging	0.68
R7334:Aldh1a1	UTSW	19	20,599,075 (GRCm39)	missense	probably damaging	1.00
R7578:Aldh1a1	UTSW	19	20,595,366 (GRCm39)	missense	probably damaging	0.98
R7920:Aldh1a1	UTSW	19	20,595,301 (GRCm39)	missense	probably damaging	1.00
R8745:Aldh1a1	UTSW	19	20,611,807 (GRCm39)	missense	probably benign
R8854:Aldh1a1	UTSW	19	20,588,297 (GRCm39)	nonsense	probably null
R9344:Aldh1a1	UTSW	19	20,608,150 (GRCm39)	missense	probably damaging	0.99
R9556:Aldh1a1	UTSW	19	20,600,756 (GRCm39)	missense	possibly damaging	0.69
R9581:Aldh1a1	UTSW	19	20,597,417 (GRCm39)	missense	probably benign	0.43
R9638:Aldh1a1	UTSW	19	20,614,100 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGCACTGTAAGCCACAGCACTG -3'
(R):5'- AGCAGGCAACAATTAGCTACCAAGG -3'

Sequencing Primer
(F):5'- GCCACAGCACTGTCCCTC -3'
(R):5'- GCATGGTCCTTTATGGACAGTAAC -3'

Posted On

2013-05-09