Mutagenetix > Incidental Mutation

Incidental Mutation 'R0556:Aldh1a1'

45594

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

038748-MU

Accession Numbers

Essential gene?

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

Stock #

R0556 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20470079-20620829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20611842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 389 (N389Y)

Ref Sequence

ENSEMBL: ENSMUSP00000084918 (fasta)

Gene Model

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

AlphaFold

P24549

Predicted Effect

probably damaging
Transcript: ENSMUST00000087638
AA Change: N389Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: N389Y

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

0.8066

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,213 (GRCm39)	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,280,482 (GRCm39)		probably benign	Het
Acad11	A	G	9: 103,992,501 (GRCm39)	E481G	probably damaging	Het
Bmpr2	C	T	1: 59,854,487 (GRCm39)	T112M	probably damaging	Het
Bms1	A	G	6: 118,390,140 (GRCm39)	Y227H	probably damaging	Het
Cab39	A	G	1: 85,763,212 (GRCm39)		probably benign	Het
Ccn3	A	T	15: 54,612,563 (GRCm39)	T191S	probably damaging	Het
Ccno	T	C	13: 113,124,820 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,610,270 (GRCm39)		probably benign	Het
Cd101	A	C	3: 100,927,970 (GRCm39)	I37S	probably damaging	Het
Ces1a	T	C	8: 93,771,740 (GRCm39)	H19R	probably benign	Het
Clec16a	A	G	16: 10,456,649 (GRCm39)		probably null	Het
Cntnap1	T	C	11: 101,074,822 (GRCm39)	F831S	probably benign	Het
Col24a1	A	G	3: 145,020,489 (GRCm39)	T287A	possibly damaging	Het
Colgalt2	C	T	1: 152,347,564 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,693,171 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,392,790 (GRCm39)	M145I	probably benign	Het
Ddx54	T	A	5: 120,757,719 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,833,426 (GRCm39)	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,494,544 (GRCm39)	Y127F	probably damaging	Het
Erap1	T	A	13: 74,808,444 (GRCm39)	V52E	probably damaging	Het
Fbxo6	G	T	4: 148,230,632 (GRCm39)	T210N	probably damaging	Het
Fcgbpl1	C	T	7: 27,858,803 (GRCm39)	H2308Y	probably benign	Het
Garre1	T	C	7: 33,939,222 (GRCm39)	T222A	probably damaging	Het
Gnat3	T	G	5: 18,224,596 (GRCm39)	V332G	probably damaging	Het
Ift22	T	A	5: 136,940,145 (GRCm39)		probably null	Het
Igkv4-71	A	G	6: 69,220,171 (GRCm39)	C109R	probably damaging	Het
Igsf10	A	G	3: 59,236,296 (GRCm39)	L1295P	probably benign	Het
Itga4	T	C	2: 79,155,983 (GRCm39)	I983T	probably benign	Het
Lhcgr	A	T	17: 89,079,491 (GRCm39)	V65D	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Morc2a	T	C	11: 3,631,809 (GRCm39)		probably null	Het
Morc2b	A	T	17: 33,356,812 (GRCm39)	M320K	probably benign	Het
Ms4a18	C	A	19: 10,991,065 (GRCm39)	V10F	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Mtor	A	G	4: 148,553,837 (GRCm39)	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,457,852 (GRCm39)	Y121C	probably damaging	Het
Or11g27	T	C	14: 50,771,381 (GRCm39)	S171P	probably benign	Het
Or4a66	A	C	2: 88,531,115 (GRCm39)	V186G	possibly damaging	Het
Or8b53	A	T	9: 38,667,041 (GRCm39)	D19V	possibly damaging	Het
Plcd3	G	A	11: 102,968,632 (GRCm39)	T353M	probably damaging	Het
Pnpla7	T	A	2: 24,942,313 (GRCm39)		probably null	Het
Ppp1r12b	T	A	1: 134,705,060 (GRCm39)	Y876F	probably damaging	Het
Prelid2	T	A	18: 42,084,245 (GRCm39)		probably benign	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Prr12	A	G	7: 44,680,093 (GRCm39)	L1887P	unknown	Het
Ptk2b	A	G	14: 66,409,593 (GRCm39)	L481P	probably damaging	Het
Rgl3	T	A	9: 21,887,140 (GRCm39)	K531*	probably null	Het
Sacs	A	G	14: 61,421,407 (GRCm39)	I115V	probably damaging	Het
Septin3	G	T	15: 82,167,966 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,673,160 (GRCm39)	S503P	probably benign	Het
Stard9	T	C	2: 120,529,404 (GRCm39)	V1887A	probably benign	Het
Synj2	T	A	17: 6,088,230 (GRCm39)	L1427*	probably null	Het
Taar2	A	G	10: 23,816,793 (GRCm39)	D111G	probably damaging	Het
Tlr5	A	G	1: 182,801,716 (GRCm39)	N340S	probably damaging	Het
Tmco2	A	G	4: 120,966,314 (GRCm39)	L14P	probably damaging	Het
Tnik	A	T	3: 28,679,367 (GRCm39)	D746V	possibly damaging	Het
Trip11	C	A	12: 101,850,777 (GRCm39)	E811*	probably null	Het
Ttll9	T	C	2: 152,815,526 (GRCm39)		probably null	Het
Uchl1	A	G	5: 66,839,824 (GRCm39)	E122G	probably benign	Het
Vwa3b	C	A	1: 37,203,566 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,452,482 (GRCm39)	N1533S	unknown	Het
Zfp687	G	T	3: 94,917,719 (GRCm39)	D684E	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
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
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'- GGTCAAAAGCATATCCACGGGTCATAC -3'
(R):5'- AGACCTTGTCATCAAGTGTTTCCTGG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GTCATCAAGTGTTTCCTGGTAATG -3'

Posted On

2013-06-11