Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Aldh1a1'

569403

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

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20492715-20643462 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20621711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 162 (V162E)

Ref Sequence

ENSEMBL: ENSMUSP00000084918 (fasta)

Gene Model

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

AlphaFold

P24549

Predicted Effect

probably damaging
Transcript: ENSMUST00000087638
AA Change: V162E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: V162E

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

Meta Mutation Damage Score

0.9725

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	T	3: 153,939,061 (GRCm38)	S9*	probably null	Het
Acot10	C	T	15: 20,665,543 (GRCm38)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990 (GRCm38)	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252 (GRCm38)	W762R	probably damaging	Het
Alms1	A	G	6: 85,641,450 (GRCm38)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460 (GRCm38)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177 (GRCm38)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734 (GRCm38)	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546 (GRCm38)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600 (GRCm38)	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656 (GRCm38)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875 (GRCm38)	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246 (GRCm38)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006 (GRCm38)	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943 (GRCm38)	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224 (GRCm38)		probably null	Het
Epb41l5	T	G	1: 119,623,949 (GRCm38)	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850 (GRCm38)	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038 (GRCm38)	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718 (GRCm38)	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496 (GRCm38)		probably null	Het
Gm12394	G	A	4: 42,793,856 (GRCm38)	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907 (GRCm38)	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959 (GRCm38)	C184S	probably damaging	Het
Hmcn2	A	G	2: 31,453,135 (GRCm38)	S4558G	possibly damaging	Het
Hmcn2	G	A	2: 31,435,794 (GRCm38)	G4278R	probably damaging	Het
Igkv1-132	A	G	6: 67,760,124 (GRCm38)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512 (GRCm38)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442 (GRCm38)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718 (GRCm38)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370 (GRCm38)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638 (GRCm38)	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798 (GRCm38)	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366 (GRCm38)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280 (GRCm38)	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268 (GRCm38)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037 (GRCm38)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971 (GRCm38)	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579 (GRCm38)	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997 (GRCm38)	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906 (GRCm38)	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755 (GRCm38)	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917 (GRCm38)	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225 (GRCm38)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503 (GRCm38)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681 (GRCm38)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262 (GRCm38)	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131 (GRCm38)	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705 (GRCm38)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982 (GRCm38)	T364A	probably benign	Het
Shcbp1	A	C	8: 4,754,310 (GRCm38)	F200C	probably damaging	Het
Shcbp1	A	T	8: 4,741,876 (GRCm38)	M479K	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767 (GRCm38)	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527 (GRCm38)	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825 (GRCm38)		probably null	Het
St18	G	A	1: 6,802,559 (GRCm38)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648 (GRCm38)	I46T	probably damaging	Het
Syne1	C	T	10: 5,057,886 (GRCm38)	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272 (GRCm38)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275 (GRCm38)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008 (GRCm38)	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649 (GRCm38)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089 (GRCm38)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817 (GRCm38)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129 (GRCm38)	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561 (GRCm38)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681 (GRCm38)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009 (GRCm38)		probably null	Het
Vmn1r58	T	A	7: 5,411,067 (GRCm38)	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760 (GRCm38)	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794 (GRCm38)	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080 (GRCm38)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754 (GRCm38)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019 (GRCm38)	C371S	probably damaging	Het

Other mutations in Aldh1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Aldh1a1	APN	19	20,619,997 (GRCm38)	missense	probably benign	0.13
IGL01769:Aldh1a1	APN	19	20,642,919 (GRCm38)	missense	probably benign	0.29
IGL02745:Aldh1a1	APN	19	20,636,664 (GRCm38)	splice site	probably benign
IGL02989:Aldh1a1	APN	19	20,640,058 (GRCm38)	splice site	probably benign
IGL03154:Aldh1a1	APN	19	20,630,768 (GRCm38)	missense	probably benign	0.21
LCD18:Aldh1a1	UTSW	19	20,626,646 (GRCm38)	intron	probably benign
R0265:Aldh1a1	UTSW	19	20,640,076 (GRCm38)	nonsense	probably null
R0282:Aldh1a1	UTSW	19	20,629,049 (GRCm38)	splice site	probably benign
R0418:Aldh1a1	UTSW	19	20,629,049 (GRCm38)	splice site	probably benign
R0471:Aldh1a1	UTSW	19	20,602,013 (GRCm38)	start codon destroyed	probably null	0.99
R0556:Aldh1a1	UTSW	19	20,634,478 (GRCm38)	missense	probably damaging	1.00
R0755:Aldh1a1	UTSW	19	20,617,994 (GRCm38)	missense	probably benign
R1164:Aldh1a1	UTSW	19	20,617,946 (GRCm38)	missense	probably benign	0.11
R1692:Aldh1a1	UTSW	19	20,630,818 (GRCm38)	missense	probably damaging	1.00
R1905:Aldh1a1	UTSW	19	20,617,998 (GRCm38)	missense	probably damaging	1.00
R2127:Aldh1a1	UTSW	19	20,642,915 (GRCm38)	missense	probably benign	0.00
R2281:Aldh1a1	UTSW	19	20,620,091 (GRCm38)	missense	possibly damaging	0.88
R2475:Aldh1a1	UTSW	19	20,640,078 (GRCm38)	missense	probably benign
R3871:Aldh1a1	UTSW	19	20,624,753 (GRCm38)	nonsense	probably null
R4607:Aldh1a1	UTSW	19	20,621,687 (GRCm38)	missense	probably benign	0.35
R4725:Aldh1a1	UTSW	19	20,640,081 (GRCm38)	missense	probably benign
R4791:Aldh1a1	UTSW	19	20,619,985 (GRCm38)	missense	probably damaging	0.99
R4792:Aldh1a1	UTSW	19	20,619,985 (GRCm38)	missense	probably damaging	0.99
R4844:Aldh1a1	UTSW	19	20,634,400 (GRCm38)	missense	probably benign	0.00
R5639:Aldh1a1	UTSW	19	20,623,422 (GRCm38)	missense	probably damaging	1.00
R5669:Aldh1a1	UTSW	19	20,610,920 (GRCm38)	missense	probably damaging	1.00
R5815:Aldh1a1	UTSW	19	20,630,670 (GRCm38)	missense	probably benign	0.00
R6387:Aldh1a1	UTSW	19	20,617,959 (GRCm38)	missense	probably damaging	0.99
R7078:Aldh1a1	UTSW	19	20,602,070 (GRCm38)	missense	probably benign
R7282:Aldh1a1	UTSW	19	20,629,070 (GRCm38)	missense	possibly damaging	0.68
R7578:Aldh1a1	UTSW	19	20,618,002 (GRCm38)	missense	probably damaging	0.98
R7920:Aldh1a1	UTSW	19	20,617,937 (GRCm38)	missense	probably damaging	1.00
R8745:Aldh1a1	UTSW	19	20,634,443 (GRCm38)	missense	probably benign
R8854:Aldh1a1	UTSW	19	20,610,933 (GRCm38)	nonsense	probably null
R9344:Aldh1a1	UTSW	19	20,630,786 (GRCm38)	missense	probably damaging	0.99
R9556:Aldh1a1	UTSW	19	20,623,392 (GRCm38)	missense	possibly damaging	0.69
R9581:Aldh1a1	UTSW	19	20,620,053 (GRCm38)	missense	probably benign	0.43
R9638:Aldh1a1	UTSW	19	20,636,736 (GRCm38)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GAGGGCTCCATTGTTTACATTC -3'
(R):5'- TACATCCCGGAGTTTCAGGAC -3'

Sequencing Primer
(F):5'- AGGGCTCCATTGTTTACATTCTTAGC -3'
(R):5'- GCTCGCTCATATCTAAGAAGCTCAG -3'

Posted On

2019-09-13