Mutagenetix > Incidental Mutation

Incidental Mutation 'R8745:Aldh1a1'

663526

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

068589-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R8745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20470079-20620829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20611807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 377 (N377S)

Ref Sequence

ENSEMBL: ENSMUSP00000084918 (fasta)

Gene Model

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

AlphaFold

P24549

Predicted Effect

probably benign
Transcript: ENSMUST00000087638
AA Change: N377S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: N377S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3b3	A	T	19: 4,014,890 (GRCm39)	Y129F	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd61	G	A	5: 143,828,237 (GRCm39)	S246L	possibly damaging	Het
Ccdc187	T	A	2: 26,170,526 (GRCm39)	I651F	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfap58	A	T	19: 47,929,553 (GRCm39)	K5*	probably null	Het
Col27a1	T	C	4: 63,144,153 (GRCm39)	S614P	probably benign	Het
Crlf3	T	A	11: 79,955,100 (GRCm39)	E85D	probably damaging	Het
Dennd2b	T	A	7: 109,156,279 (GRCm39)	H157L	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnah7b	A	G	1: 46,221,624 (GRCm39)	I1243V	possibly damaging	Het
Dnajc22	A	G	15: 98,999,345 (GRCm39)	T177A	probably benign	Het
Dytn	A	T	1: 63,686,606 (GRCm39)	C355S	probably benign	Het
Efcab3	C	T	11: 104,749,304 (GRCm39)	T2340M	possibly damaging	Het
Ehbp1	T	C	11: 22,119,064 (GRCm39)	N202S	possibly damaging	Het
Exoc3l2	T	C	7: 19,215,212 (GRCm39)	I491T	unknown	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fam53a	A	T	5: 33,767,781 (GRCm39)	I43N	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,676,528 (GRCm39)	T568A	probably benign	Het
Gba1	A	T	3: 89,115,180 (GRCm39)	N404I	probably damaging	Het
Gsap	A	G	5: 21,474,949 (GRCm39)	Y536C	probably benign	Het
Hecw2	T	A	1: 53,972,330 (GRCm39)	E230V	probably damaging	Het
Heg1	A	G	16: 33,555,986 (GRCm39)	Q1046R	probably benign	Het
Kctd14	G	A	7: 97,107,445 (GRCm39)	W233*	probably null	Het
Krt88	T	C	15: 101,351,460 (GRCm39)	S156P	possibly damaging	Het
L3mbtl1	C	A	2: 162,812,137 (GRCm39)	H727Q	probably benign	Het
Man1c1	T	C	4: 134,303,295 (GRCm39)	K400E	probably damaging	Het
Map2	A	T	1: 66,452,556 (GRCm39)	Q482L	probably benign	Het
Map3k1	A	G	13: 111,893,306 (GRCm39)	V733A	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Map4k3	G	A	17: 80,944,164 (GRCm39)	R328C	possibly damaging	Het
Marchf7	C	T	2: 60,067,153 (GRCm39)	Q558*	probably null	Het
Mepe	T	C	5: 104,485,525 (GRCm39)	S222P	possibly damaging	Het
Mfap3l	A	T	8: 61,124,958 (GRCm39)	N400I	possibly damaging	Het
Myom3	T	C	4: 135,522,509 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,659,311 (GRCm39)	T769A	probably benign	Het
Ndufb7	T	A	8: 84,297,518 (GRCm39)	Y58N	probably damaging	Het
Nup160	T	C	2: 90,530,463 (GRCm39)	F445L	probably benign	Het
Or1e20-ps1	C	A	11: 73,324,848 (GRCm39)	*68L	probably null	Het
Or4c126	T	A	2: 89,824,076 (GRCm39)	M113K	probably damaging	Het
Or4p23	T	C	2: 88,576,408 (GRCm39)	I275V	possibly damaging	Het
Ovch2	G	A	7: 107,389,584 (GRCm39)	S321F	possibly damaging	Het
Pamr1	T	C	2: 102,441,924 (GRCm39)	L171P	probably damaging	Het
Pcdhga5	T	C	18: 37,828,974 (GRCm39)	V474A	possibly damaging	Het
Pcgf6	A	G	19: 47,039,159 (GRCm39)	S34P	probably benign	Het
Pitrm1	C	T	13: 6,603,238 (GRCm39)	P96L	probably damaging	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ranbp1	A	G	16: 18,065,244 (GRCm39)	S21P	possibly damaging	Het
Rasgrp2	G	T	19: 6,463,949 (GRCm39)	R549L	probably damaging	Het
Rassf10	T	A	7: 112,554,083 (GRCm39)	L228Q	probably damaging	Het
Rho	A	T	6: 115,912,483 (GRCm39)	I275F	probably damaging	Het
Rrp9	T	C	9: 106,361,657 (GRCm39)	V400A	possibly damaging	Het
Satb2	A	G	1: 57,008,796 (GRCm39)	L62P	unknown	Het
Scmh1	T	A	4: 120,362,559 (GRCm39)	L265*	probably null	Het
Scn7a	A	G	2: 66,510,526 (GRCm39)	M1292T	probably benign	Het
Serpinb10	A	T	1: 107,474,542 (GRCm39)	T235S	probably benign	Het
Serpinb6c	A	G	13: 34,064,702 (GRCm39)	V214A	probably benign	Het
Sf3b3	A	G	8: 111,550,816 (GRCm39)	I616T	possibly damaging	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Snx5	A	T	2: 144,103,932 (GRCm39)	S22T	probably benign	Het
Spata6	T	C	4: 111,636,476 (GRCm39)	F256L	probably benign	Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Tex9	T	C	9: 72,389,778 (GRCm39)	I111V	probably benign	Het
Tigd4	A	G	3: 84,501,874 (GRCm39)	I264V	probably benign	Het
Tmem182	C	T	1: 40,877,536 (GRCm39)	A137V	probably damaging	Het
Tnfrsf1a	A	G	6: 125,338,745 (GRCm39)	I385V	probably damaging	Het
Tnrc18	A	T	5: 142,773,202 (GRCm39)	F542L		Het
Tpbpa	G	A	13: 61,087,778 (GRCm39)	T86I	possibly damaging	Het
Trappc14	A	G	5: 138,261,327 (GRCm39)		probably null	Het
Ubr5	G	A	15: 38,025,039 (GRCm39)	P573L		Het
Usp54	A	G	14: 20,612,176 (GRCm39)	I880T	probably benign	Het
Vmn1r9	A	G	6: 57,048,767 (GRCm39)	I281V	probably benign	Het
Zfp456	C	A	13: 67,515,373 (GRCm39)	C111F	possibly 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
R0265:Aldh1a1	UTSW	19	20,617,440 (GRCm39)	nonsense	probably null
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
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'- CGGAAGCCTCATCTTCGTTAC -3'
(R):5'- ACACGTGGATTCCTTACTGTTTAGC -3'

Sequencing Primer
(F):5'- AGCCTCATCTTCGTTACGTGTTTATG -3'
(R):5'- AAGACCTTGTCATCAAGTGTTTCCTG -3'

Posted On

2021-03-08