Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Adh4'

37665

Institutional Source

Beutler Lab

Gene Symbol

Adh4

Ensembl Gene

ENSMUSG00000037797

Gene Name

alcohol dehydrogenase 4 (class II), pi polypeptide

Synonyms

Adh2, mouse class II type ADH

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

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

Stock #

R0295 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

138121227-138136653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138134837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 337 (D337G)

Ref Sequence

ENSEMBL: ENSMUSP00000013458 (fasta)

Gene Model

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

AlphaFold

Q9QYY9

PDB Structure

Mouse class II alcohol dehydrogenase complex with NADH [X-RAY DIFFRACTION]
Mouse class II alcohol dehydrogenase complex with NADH and inhibitor [X-RAY DIFFRACTION]
P47H MUTANT OF MOUSE CLASS II ALCOHOL DEHYDROGENASE COMPLEX WITH NADH [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000013458
AA Change: D337G

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

SMART Domains

Protein: ENSMUSP00000013458
Gene: ENSMUSG00000037797
AA Change: D337G

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

Meta Mutation Damage Score

0.3446

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	probably 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
IGL01618: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
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

Predicted Primers

PCR Primer
(F):5'- AGTACATTAAGCACACGTATGAATGCCA -3'
(R):5'- CCAGGGAACCTACCCTTCATTACACTA -3'

Sequencing Primer
(F):5'- GTGGCCAAATTACAGGTTGG -3'
(R):5'- caaaaaaccaaaacaaacaaacaaac -3'

Posted On

2013-05-23