Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Aldh3a1'

43661

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

041980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61099336-61109244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61107927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 324 (V324M)

Ref Sequence

ENSEMBL: ENSMUSP00000104356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716] [ENSMUST00000147792]

AlphaFold

P47739

Predicted Effect

probably damaging
Transcript: ENSMUST00000019246
AA Change: V324M

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

SMART Domains

Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: V324M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108716
AA Change: V324M

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

SMART Domains

Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: V324M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147792

Meta Mutation Damage Score

0.3456

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,813,935 (GRCm39)		probably benign	Het
Als2cl	T	A	9: 110,723,686 (GRCm39)	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,438,762 (GRCm39)	F556L	probably damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Boc	C	T	16: 44,316,812 (GRCm39)	V444I	probably benign	Het
Cfap61	G	A	2: 145,919,232 (GRCm39)	V655I	probably benign	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Cyp3a41a	T	A	5: 145,641,606 (GRCm39)	H288L	probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dock2	A	G	11: 34,262,453 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,419,695 (GRCm39)	N316S	possibly damaging	Het
Farsa	G	T	8: 85,587,934 (GRCm39)		probably benign	Het
Fibcd1	T	G	2: 31,728,599 (GRCm39)	D86A	probably damaging	Het
Gab1	A	T	8: 81,496,359 (GRCm39)	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155 (GRCm39)	T150K	possibly damaging	Het
Gnb3	G	A	6: 124,812,767 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Hmcn1	G	A	1: 150,684,427 (GRCm39)	P381L	probably damaging	Het
Hspa8	T	G	9: 40,715,925 (GRCm39)	N544K	probably benign	Het
Hspg2	C	T	4: 137,247,242 (GRCm39)	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,042,382 (GRCm39)		probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Lcor	A	G	19: 41,573,338 (GRCm39)	T698A	probably benign	Het
Lyrm7	T	A	11: 54,739,423 (GRCm39)	T76S	probably benign	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Mcub	A	C	3: 129,727,414 (GRCm39)		probably benign	Het
Muc13	T	C	16: 33,623,518 (GRCm39)	S271P	probably damaging	Het
Myo16	A	G	8: 10,525,988 (GRCm39)	K843E	probably damaging	Het
Nav2	A	G	7: 49,102,978 (GRCm39)	E531G	possibly damaging	Het
Niban3	A	G	8: 72,057,688 (GRCm39)		probably benign	Het
Nup188	T	C	2: 30,212,035 (GRCm39)	V553A	probably benign	Het
Or1e16	A	G	11: 73,286,314 (GRCm39)	F178S	probably damaging	Het
Or1e1c	A	G	11: 73,266,414 (GRCm39)	M283V	possibly damaging	Het
Or52d1	A	G	7: 103,755,527 (GRCm39)	I14V	probably benign	Het
Or6z1	A	G	7: 6,504,610 (GRCm39)	I205T	possibly damaging	Het
Or8b9	T	A	9: 37,766,516 (GRCm39)	V134D	possibly damaging	Het
P4ha3	C	T	7: 99,968,155 (GRCm39)	R378*	probably null	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rbfox1	T	A	16: 7,148,284 (GRCm39)	S244R	probably benign	Het
Rpp40	G	A	13: 36,080,718 (GRCm39)	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Skint5	T	C	4: 113,751,059 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tle4	A	G	19: 14,444,078 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,901,266 (GRCm39)	S1027P	probably benign	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Uggt2	A	T	14: 119,287,075 (GRCm39)	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,409,290 (GRCm39)	H205Q	probably damaging	Het
Wbp2	T	C	11: 115,970,614 (GRCm39)		probably null	Het
Xirp1	T	C	9: 119,846,520 (GRCm39)	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,296,637 (GRCm39)		probably null	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	Het
Zfpm1	A	G	8: 123,061,227 (GRCm39)	Y264C	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
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
R9793:Aldh3a1	UTSW	11	61,108,927 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCAGTTAACAAGGAGACAGGAG -3'
(R):5'- TGTAAGTGCTGTGCCTGATGAGCC -3'

Sequencing Primer
(F):5'- ATCTGCCAGGATGTAGTCTAAGC -3'
(R):5'- TGCCTGATGAGCCAGGAATC -3'

Posted On

2013-05-29