Mutagenetix > Incidental Mutations

Incidental Mutation 'R3808:Aldh3a2'

275051

Institutional Source

Beutler Lab

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

MMRRC Submission

040765-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3808 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

61223417-61267464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61258797 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 248 (L248M)

Ref Sequence

ENSEMBL: ENSMUSP00000104355 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000066277
AA Change: L248M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: L248M

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: L248M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: L248M

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: L248M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: L248M

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: ENSMUST00000141368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147291

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Als2	A	G	1: 59,170,450	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,612,454	M319L	probably benign	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643		probably null	Het
Dock4	T	G	12: 40,672,810	V305G	probably damaging	Het
Dtl	A	C	1: 191,548,354	L356R	probably damaging	Het
Eftud2	A	T	11: 102,841,463		probably null	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Fat4	T	G	3: 38,982,438	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Nbea	T	C	3: 55,717,848	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Plin3	C	A	17: 56,286,275	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rdh16f1	T	A	10: 127,788,699	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,788,700	V136M	probably damaging	Het
Rgs12	A	G	5: 35,032,354	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900	T116A	possibly damaging	Het
Zfp607a	G	A	7: 27,879,401	R632H	probably benign	Het

Other mutations in Aldh3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Aldh3a2	APN	11	61262256	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGAATGCAGTCACACGTGTG -3'
(R):5'- TCCATTGGAAGACATTAAAATGGAAA -3'

Sequencing Primer
(F):5'- ACACGTGTGACTGGGGTTGTC -3'
(R):5'- AGCACTCTTGGTTAAGAAGCTGC -3'

Posted On

2015-04-02