Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00941:Aldh3a2'

28550

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh3a2

Ensembl Gene

ENSMUSG00000010025

Gene Name

aldehyde dehydrogenase family 3, subfamily A2

Synonyms

Ahd3-r, FALDH, Ahd-3r, Aldh4, Aldh4-r, Ahd-3, Ahd3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

61223417-61267464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61262256 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 215 (Y215H)

Ref Sequence

ENSEMBL: ENSMUSP00000104355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066277
AA Change: Y215H

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

SMART Domains

Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: Y215H

Domain	Start	End	E-Value	Type
Pfam:Aldedh	1	424	3.8e-91	PFAM
Pfam:LuxC	82	385	3.3e-8	PFAM
transmembrane domain	463	480	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000074127
AA Change: Y215H

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

SMART Domains

Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: Y215H

Domain	Start	End	E-Value	Type
Pfam:Aldedh	2	424	5.9e-93	PFAM
Pfam:LuxC	78	385	5.9e-9	PFAM
transmembrane domain	463	480	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108715
AA Change: Y215H

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

SMART Domains

Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: Y215H

Domain	Start	End	E-Value	Type
Pfam:Aldedh	2	424	4e-93	PFAM
Pfam:LuxC	78	385	8.5e-9	PFAM
transmembrane domain	462	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149298

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired long-chain base metabolism, hyperproliferation of keratinocytes, widened intercellular spaces in the basal layer of the epidermis, and delayed barrier recovery after stratum corneum perturbation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,317,130	I521S	probably damaging	Het
Ace	A	T	11: 105,979,550	K265I	probably benign	Het
Acss3	A	G	10: 107,053,326		probably null	Het
Clk2	A	G	3: 89,175,422	M393V	probably damaging	Het
Cyc1	A	G	15: 76,345,165	I242V	probably benign	Het
Evpl	G	A	11: 116,227,901	L657F	probably benign	Het
Fbxw10	G	A	11: 62,873,501	V675M	probably damaging	Het
Fgf21	A	G	7: 45,615,173	V45A	probably damaging	Het
Gm5134	T	C	10: 76,000,421	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,003,751		probably benign	Het
Hk3	C	T	13: 55,014,426		probably null	Het
Ifna12	A	T	4: 88,603,314		probably benign	Het
Ipp	A	G	4: 116,532,659	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,396,498	V73I	probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Mical2	T	C	7: 112,321,445		probably benign	Het
Mllt1	A	T	17: 56,895,086	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,524,755	H141L	probably benign	Het
Sept4	G	T	11: 87,589,773	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,379,901	F550L	probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Stk36	T	A	1: 74,623,934	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,564,501	A415T	probably benign	Het
Zfp839	C	A	12: 110,860,948	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,814,747	G95W	probably damaging	Het

Other mutations in Aldh3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Aldh3a2	APN	11	61249002	missense	probably benign	0.01
IGL01514:Aldh3a2	APN	11	61253798	unclassified	probably benign
IGL01633:Aldh3a2	APN	11	61248905	missense	probably benign	0.38
IGL03153:Aldh3a2	APN	11	61258839	missense	probably damaging	0.99
R0095:Aldh3a2	UTSW	11	61250948	missense	probably damaging	1.00
R0126:Aldh3a2	UTSW	11	61224558	missense	probably benign	0.04
R0164:Aldh3a2	UTSW	11	61248888	missense	probably benign	0.23
R0164:Aldh3a2	UTSW	11	61248888	missense	probably benign	0.23
R0646:Aldh3a2	UTSW	11	61253715	missense	probably damaging	0.97
R0699:Aldh3a2	UTSW	11	61262322	missense	probably benign	0.01
R1398:Aldh3a2	UTSW	11	61256736	splice site	probably null
R1443:Aldh3a2	UTSW	11	61264307	missense	probably damaging	1.00
R1454:Aldh3a2	UTSW	11	61265102	missense	probably benign	0.00
R1551:Aldh3a2	UTSW	11	61253644	missense	probably benign	0.01
R1557:Aldh3a2	UTSW	11	61249059	missense	probably damaging	1.00
R1701:Aldh3a2	UTSW	11	61256772	missense	probably damaging	1.00
R3808:Aldh3a2	UTSW	11	61258797	missense	probably damaging	1.00
R4871:Aldh3a2	UTSW	11	61262239	nonsense	probably null
R5304:Aldh3a2	UTSW	11	61253712	missense	probably damaging	0.99
R6318:Aldh3a2	UTSW	11	61262419	nonsense	probably null
R6759:Aldh3a2	UTSW	11	61265262	missense	probably benign	0.00
R6768:Aldh3a2	UTSW	11	61253710	missense	probably benign	0.01
R7939:Aldh3a2	UTSW	11	61224598	missense	probably benign	0.00
Z1176:Aldh3a2	UTSW	11	61264283	missense	probably benign	0.00

Posted On

2013-04-17