Mutagenetix > Incidental Mutation

Incidental Mutation 'R9793:Aldh3a1'

734765

Institutional Source

Beutler Lab

Gene Symbol

Aldh3a1

Ensembl Gene

ENSMUSG00000019102

Gene Name

aldehyde dehydrogenase family 3, subfamily A1

Synonyms

Ahd-4, Aldh, Aldh3, Ahd4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61099336-61109244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61108927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 443 (Y443H)

Ref Sequence

ENSEMBL: ENSMUSP00000019246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716]

AlphaFold

P47739

Predicted Effect

probably damaging
Transcript: ENSMUST00000019246
AA Change: Y443H

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

SMART Domains

Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: Y443H

Domain	Start	End	E-Value	Type
Pfam:Aldedh	1	428	3.6e-96	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108716
AA Change: Y443H

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

SMART Domains

Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: Y443H

Domain	Start	End	E-Value	Type
Pfam:Aldedh	1	428	4.1e-98	PFAM
Pfam:LuxC	4	389	9.8e-11	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cntln	C	T	4: 84,985,798 (GRCm39)	L951F	probably benign	Het
Cntnap4	T	C	8: 113,608,357 (GRCm39)	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dop1b	T	A	16: 93,598,503 (GRCm39)	D2006E	probably benign	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Glipr1l2	A	G	10: 111,942,905 (GRCm39)	I253M	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Kif26a	C	T	12: 112,142,887 (GRCm39)	A1047V	probably damaging	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Nwd2	A	G	5: 63,964,232 (GRCm39)	E1272G	probably damaging	Het
Or2y1	A	T	11: 49,385,882 (GRCm39)	N174I	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rbm20	C	A	19: 53,852,551 (GRCm39)	T1177K	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sel1l3	C	A	5: 53,329,924 (GRCm39)	R477L	probably benign	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Sirpb1b	G	A	3: 15,640,074 (GRCm39)		probably benign	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Srrt	G	C	5: 137,294,835 (GRCm39)	I739M	probably benign	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Wdr26	A	G	1: 181,036,812 (GRCm39)	F143S	probably damaging	Het

Other mutations in Aldh3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Aldh3a1	APN	11	61,104,422 (GRCm39)	missense	probably damaging	1.00
IGL00833:Aldh3a1	APN	11	61,108,006 (GRCm39)	missense	probably damaging	0.99
IGL02281:Aldh3a1	APN	11	61,107,949 (GRCm39)	splice site	probably null
IGL02608:Aldh3a1	APN	11	61,107,147 (GRCm39)	missense	probably damaging	1.00
IGL03294:Aldh3a1	APN	11	61,105,548 (GRCm39)	missense	probably damaging	1.00
R0006:Aldh3a1	UTSW	11	61,107,927 (GRCm39)	missense	probably damaging	1.00
R0453:Aldh3a1	UTSW	11	61,106,338 (GRCm39)	missense	probably benign	0.01
R0612:Aldh3a1	UTSW	11	61,105,445 (GRCm39)	missense	probably damaging	1.00
R0637:Aldh3a1	UTSW	11	61,106,304 (GRCm39)	unclassified	probably benign
R1613:Aldh3a1	UTSW	11	61,105,377 (GRCm39)	missense	probably damaging	0.98
R3423:Aldh3a1	UTSW	11	61,106,362 (GRCm39)	missense	probably damaging	1.00
R3772:Aldh3a1	UTSW	11	61,105,431 (GRCm39)	missense	possibly damaging	0.86
R4673:Aldh3a1	UTSW	11	61,104,320 (GRCm39)	missense	probably benign
R4997:Aldh3a1	UTSW	11	61,103,137 (GRCm39)	missense	probably benign	0.02
R5425:Aldh3a1	UTSW	11	61,104,407 (GRCm39)	missense	probably benign	0.01
R5514:Aldh3a1	UTSW	11	61,108,867 (GRCm39)	missense	probably damaging	1.00
R5679:Aldh3a1	UTSW	11	61,107,994 (GRCm39)	missense	probably benign	0.00
R6150:Aldh3a1	UTSW	11	61,104,334 (GRCm39)	missense	probably benign
R6662:Aldh3a1	UTSW	11	61,105,481 (GRCm39)	missense	probably benign	0.01
R6986:Aldh3a1	UTSW	11	61,105,077 (GRCm39)	missense	probably damaging	1.00
R8720:Aldh3a1	UTSW	11	61,104,305 (GRCm39)	missense	probably benign	0.32
R8821:Aldh3a1	UTSW	11	61,107,142 (GRCm39)	missense	probably damaging	1.00
R8831:Aldh3a1	UTSW	11	61,107,142 (GRCm39)	missense	probably damaging	1.00
R9034:Aldh3a1	UTSW	11	61,104,475 (GRCm39)	missense	probably benign	0.01
R9599:Aldh3a1	UTSW	11	61,107,912 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTGTGCCTGACAGAGC -3'
(R):5'- TCTTCAAGGACAGGACAGCC -3'

Sequencing Primer
(F):5'- CTAGGGGACACTCTAAGCTTTAGC -3'
(R):5'- CCAGCAAAACAAGTGTCAGGTG -3'

Posted On

2022-11-14