Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Adh4'

278605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adh4

Ensembl Gene

ENSMUSG00000037797

Gene Name

alcohol dehydrogenase 4 (class II), pi polypeptide

Synonyms

Adh2, mouse class II type ADH

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

138121227-138136653 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 138134788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013458] [ENSMUST00000161312]

AlphaFold

Q9QYY9

Predicted Effect

probably benign
Transcript: ENSMUST00000013458

SMART Domains

Protein: ENSMUSP00000013458
Gene: ENSMUSG00000037797

Domain	Start	End	E-Value	Type
Pfam:ADH_N	34	165	3.1e-23	PFAM
Pfam:ADH_zinc_N	207	337	8.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161312

SMART Domains

Protein: ENSMUSP00000124163
Gene: ENSMUSG00000037797

Domain	Start	End	E-Value	Type
Pfam:ADH_N	46	177	2.8e-25	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,261,265 (GRCm39)	A74V	probably benign	Het
Aldh1a3	G	A	7: 66,058,978 (GRCm39)	T239I	probably damaging	Het
Anxa9	A	G	3: 95,207,847 (GRCm39)		probably null	Het
Atp5me	C	A	5: 108,581,899 (GRCm39)	K28N	probably damaging	Het
C9	T	G	15: 6,489,149 (GRCm39)	Y169D	probably benign	Het
Chat	T	A	14: 32,168,849 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,874,479 (GRCm39)	E706K	probably benign	Het
Ctbs	A	G	3: 146,160,867 (GRCm39)	K145E	probably benign	Het
Dennd5a	A	G	7: 109,533,302 (GRCm39)	M156T	probably damaging	Het
Dhx29	A	G	13: 113,101,756 (GRCm39)	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,295,596 (GRCm39)	F517Y	probably benign	Het
Dst	G	A	1: 34,227,990 (GRCm39)	W1536*	probably null	Het
Galc	T	C	12: 98,218,340 (GRCm39)	T171A	possibly damaging	Het
Gsap	T	C	5: 21,431,246 (GRCm39)	I190T	probably damaging	Het
Hars2	A	T	18: 36,922,630 (GRCm39)	R388*	probably null	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Itgbl1	T	A	14: 124,065,211 (GRCm39)	S122T	possibly damaging	Het
Jhy	G	T	9: 40,872,260 (GRCm39)	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,795,525 (GRCm39)	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,802,119 (GRCm39)	I509N	probably damaging	Het
Lpar6	T	C	14: 73,476,506 (GRCm39)	S156P	probably damaging	Het
Man2c1	T	C	9: 57,048,840 (GRCm39)		probably benign	Het
Marchf11	T	C	15: 26,409,285 (GRCm39)	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,091,290 (GRCm39)	C171S	probably benign	Het
Muc4	A	T	16: 32,577,001 (GRCm39)	Q2167L	unknown	Het
Myom1	T	C	17: 71,406,988 (GRCm39)	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,702,555 (GRCm39)	R101*	probably null	Het
Nxpe4	T	C	9: 48,305,440 (GRCm39)	S277P	possibly damaging	Het
Or1e35	T	C	11: 73,798,303 (GRCm39)	N5S	probably damaging	Het
Or2a52	T	A	6: 43,144,637 (GRCm39)	V215E	probably damaging	Het
Or52r1c	G	A	7: 102,735,582 (GRCm39)	V281I	probably benign	Het
Or5b106	T	A	19: 13,123,614 (GRCm39)	K136N	probably benign	Het
Or5w19	A	C	2: 87,698,488 (GRCm39)	D51A	probably damaging	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Prepl	A	G	17: 85,373,709 (GRCm39)	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,368,529 (GRCm39)	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,637,176 (GRCm39)	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,571,746 (GRCm39)	M100K	probably benign	Het
Sema3c	A	G	5: 17,877,504 (GRCm39)	N204D	probably damaging	Het
Susd4	A	G	1: 182,686,026 (GRCm39)		probably null	Het
Taar7f	G	T	10: 23,926,239 (GRCm39)	A278S	possibly damaging	Het
Tle4	T	A	19: 14,522,178 (GRCm39)	M122L	probably benign	Het
Trim9	C	T	12: 70,295,125 (GRCm39)	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,150,345 (GRCm39)	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,285,521 (GRCm39)	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,794,247 (GRCm39)		probably benign	Het
Zng1	T	C	19: 24,918,140 (GRCm39)	E210G	possibly damaging	Het

Other mutations in Adh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Adh4	APN	3	138,126,397 (GRCm39)	missense	probably damaging	0.99
IGL01450:Adh4	APN	3	138,129,794 (GRCm39)	missense	probably benign	0.05
IGL01608:Adh4	APN	3	138,134,788 (GRCm39)	unclassified	probably benign
IGL01621:Adh4	APN	3	138,134,788 (GRCm39)	unclassified	probably benign
IGL01640:Adh4	APN	3	138,134,788 (GRCm39)	unclassified	probably benign
IGL01979:Adh4	APN	3	138,134,788 (GRCm39)	unclassified	probably benign
IGL01982:Adh4	APN	3	138,134,788 (GRCm39)	unclassified	probably benign
IGL01993:Adh4	APN	3	138,134,788 (GRCm39)	unclassified	probably benign
IGL02720:Adh4	APN	3	138,124,981 (GRCm39)	missense	possibly damaging	0.87
IGL03030:Adh4	APN	3	138,134,906 (GRCm39)	missense	probably benign	0.13
PIT4403001:Adh4	UTSW	3	138,129,939 (GRCm39)	missense	probably damaging	0.97
R0295:Adh4	UTSW	3	138,134,837 (GRCm39)	missense	probably damaging	1.00
R0308:Adh4	UTSW	3	138,129,863 (GRCm39)	missense	probably damaging	1.00
R0636:Adh4	UTSW	3	138,133,835 (GRCm39)	missense	probably damaging	1.00
R1450:Adh4	UTSW	3	138,129,935 (GRCm39)	missense	probably damaging	1.00
R4824:Adh4	UTSW	3	138,134,807 (GRCm39)	missense	possibly damaging	0.81
R5137:Adh4	UTSW	3	138,127,996 (GRCm39)	missense	probably benign	0.00
R5263:Adh4	UTSW	3	138,133,816 (GRCm39)	missense	probably benign	0.00
R5566:Adh4	UTSW	3	138,129,950 (GRCm39)	missense	probably damaging	1.00
R6162:Adh4	UTSW	3	138,121,250 (GRCm39)	splice site	probably null
R7297:Adh4	UTSW	3	138,134,901 (GRCm39)	missense	possibly damaging	0.88
R8430:Adh4	UTSW	3	138,128,145 (GRCm39)	missense	probably damaging	1.00
R9053:Adh4	UTSW	3	138,128,045 (GRCm39)	missense	probably damaging	0.99
R9253:Adh4	UTSW	3	138,129,860 (GRCm39)	missense	probably damaging	1.00
Z1187:Adh4	UTSW	3	138,125,091 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16