Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Aldh3a2'

158662

Institutional Source

Beutler Lab

Gene Symbol

Aldh3a2

Ensembl Gene

ENSMUSG00000010025

Gene Name

aldehyde dehydrogenase family 3, subfamily A2

Synonyms

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

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61114240-61158267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61155133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 137 (S137L)

Ref Sequence

ENSEMBL: ENSMUSP00000104355 (fasta)

Gene Model

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

AlphaFold

P47740

Predicted Effect

probably damaging
Transcript: ENSMUST00000066277
AA Change: S137L

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

SMART Domains

Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: S137L

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: S137L

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

SMART Domains

Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: S137L

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: S137L

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

SMART Domains

Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: S137L

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

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	Het

Other mutations in Aldh3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Aldh3a2	APN	11	61,153,082 (GRCm39)	missense	probably damaging	1.00
IGL01374:Aldh3a2	APN	11	61,139,828 (GRCm39)	missense	probably benign	0.01
IGL01514:Aldh3a2	APN	11	61,144,624 (GRCm39)	unclassified	probably benign
IGL01633:Aldh3a2	APN	11	61,139,731 (GRCm39)	missense	probably benign	0.38
IGL03153:Aldh3a2	APN	11	61,149,665 (GRCm39)	missense	probably damaging	0.99
R0095:Aldh3a2	UTSW	11	61,141,774 (GRCm39)	missense	probably damaging	1.00
R0126:Aldh3a2	UTSW	11	61,115,384 (GRCm39)	missense	probably benign	0.04
R0164:Aldh3a2	UTSW	11	61,139,714 (GRCm39)	missense	probably benign	0.23
R0164:Aldh3a2	UTSW	11	61,139,714 (GRCm39)	missense	probably benign	0.23
R0646:Aldh3a2	UTSW	11	61,144,541 (GRCm39)	missense	probably damaging	0.97
R0699:Aldh3a2	UTSW	11	61,153,148 (GRCm39)	missense	probably benign	0.01
R1398:Aldh3a2	UTSW	11	61,147,562 (GRCm39)	splice site	probably null
R1454:Aldh3a2	UTSW	11	61,155,928 (GRCm39)	missense	probably benign	0.00
R1551:Aldh3a2	UTSW	11	61,144,470 (GRCm39)	missense	probably benign	0.01
R1557:Aldh3a2	UTSW	11	61,139,885 (GRCm39)	missense	probably damaging	1.00
R1701:Aldh3a2	UTSW	11	61,147,598 (GRCm39)	missense	probably damaging	1.00
R3808:Aldh3a2	UTSW	11	61,149,623 (GRCm39)	missense	probably damaging	1.00
R4871:Aldh3a2	UTSW	11	61,153,065 (GRCm39)	nonsense	probably null
R5304:Aldh3a2	UTSW	11	61,144,538 (GRCm39)	missense	probably damaging	0.99
R6318:Aldh3a2	UTSW	11	61,153,245 (GRCm39)	nonsense	probably null
R6759:Aldh3a2	UTSW	11	61,156,088 (GRCm39)	missense	probably benign	0.00
R6768:Aldh3a2	UTSW	11	61,144,536 (GRCm39)	missense	probably benign	0.01
R7939:Aldh3a2	UTSW	11	61,115,424 (GRCm39)	missense	probably benign	0.00
R8803:Aldh3a2	UTSW	11	61,139,756 (GRCm39)	missense	probably benign
R9130:Aldh3a2	UTSW	11	61,139,758 (GRCm39)	missense	probably benign
R9223:Aldh3a2	UTSW	11	61,156,037 (GRCm39)	missense	probably benign	0.00
R9265:Aldh3a2	UTSW	11	61,153,094 (GRCm39)	missense	probably damaging	1.00
Z1176:Aldh3a2	UTSW	11	61,155,109 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACAGTTGCTGGGTCATTCTACAGG -3'
(R):5'- GTCAGTGAGATGCTGAGAGCTAACG -3'

Sequencing Primer
(F):5'- GGAACCTGGCTTCCTTTATTAAG -3'
(R):5'- CTAACGGGTTAGCACTTGAGAAG -3'

Posted On

2014-03-14