Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Aldh3a2'

24356

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

038440-MU

Accession Numbers

Essential gene?

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

Stock #

R0164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61114240-61158267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61139714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 473 (V473I)

Ref Sequence

ENSEMBL: ENSMUSP00000104355 (fasta)

Gene Model

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

AlphaFold

P47740

Predicted Effect

probably benign
Transcript: ENSMUST00000066277
AA Change: V473I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: V473I

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 benign
Transcript: ENSMUST00000074127
AA Change: V473I

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: V473I

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 benign
Transcript: ENSMUST00000108715
AA Change: V473I

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: V473I

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

unknown
Transcript: ENSMUST00000208086
AA Change: V93I

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	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
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
R1443:Aldh3a2	UTSW	11	61,155,133 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-04-16