Mutagenetix > Incidental Mutation

Incidental Mutation 'R9513:Adh1'

718273

Institutional Source

Beutler Lab

Gene Symbol

Adh1

Ensembl Gene

ENSMUSG00000074207

Gene Name

alcohol dehydrogenase 1 (class I)

Synonyms

Adh-1-t, Adh-1t, Adh-1, Adh1tl, Adh1-t, Adh1-e, class I alcohol dehydrogenase, Adh-1e, ADH-AA

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137983346-137996459 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 137988571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 181 (Y181*)

Ref Sequence

ENSEMBL: ENSMUSP00000004232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004232] [ENSMUST00000159159]

AlphaFold

P00329

Predicted Effect

probably null
Transcript: ENSMUST00000004232
AA Change: Y181*

SMART Domains

Protein: ENSMUSP00000004232
Gene: ENSMUSG00000074207
AA Change: Y181*

Domain	Start	End	E-Value	Type
Pfam:ADH_N	34	161	1.3e-25	PFAM
Pfam:ADH_zinc_N	203	337	3.6e-27	PFAM
Pfam:ADH_zinc_N_2	236	369	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159159

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class I alcohol dehydrogenase, gamma 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 I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired metabolism of (and sensitivity to) ethanol and retinol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Accsl	T	C	2: 93,699,498 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,530,472 (GRCm39)	K5867N	possibly damaging	Het
Agbl2	T	C	2: 90,631,458 (GRCm39)	V272A	possibly damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Amotl1	A	T	9: 14,526,063 (GRCm39)	S6T	probably benign	Het
Bicd1	T	A	6: 149,414,391 (GRCm39)	V368E	probably damaging	Het
Brinp2	G	A	1: 158,074,273 (GRCm39)	T616I	probably damaging	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Cacna1e	T	A	1: 154,318,033 (GRCm39)	I1450F	probably damaging	Het
Camk2a	A	G	18: 61,088,607 (GRCm39)		probably null	Het
Ccdc125	A	G	13: 100,826,875 (GRCm39)	E244G	probably benign	Het
Cdh23	C	T	10: 60,166,995 (GRCm39)	A1884T	probably damaging	Het
Clcn1	T	C	6: 42,282,462 (GRCm39)	I510T	probably damaging	Het
Copb1	A	T	7: 113,831,432 (GRCm39)	V572D	probably benign	Het
Ctf1	AGCAAC	A	7: 127,316,180 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,354,179 (GRCm39)	L3053Q	probably damaging	Het
Ephb4	T	A	5: 137,361,564 (GRCm39)	H531Q	possibly damaging	Het
Fgl2	T	A	5: 21,580,790 (GRCm39)	C377*	probably null	Het
Frmd4a	T	C	2: 4,608,711 (GRCm39)	F860L	probably damaging	Het
Gbp9	T	C	5: 105,229,091 (GRCm39)	N519D	probably benign	Het
Gm1110	A	G	9: 26,795,083 (GRCm39)	S468P	possibly damaging	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gnas	T	C	2: 174,185,089 (GRCm39)	Y916H	probably damaging	Het
Hectd1	T	C	12: 51,816,079 (GRCm39)	D1336G	possibly damaging	Het
Herc2	G	T	7: 55,762,848 (GRCm39)	G859V	probably damaging	Het
Hydin	G	A	8: 111,322,114 (GRCm39)	D4589N	probably damaging	Het
Itfg1	A	T	8: 86,490,875 (GRCm39)	N351K	possibly damaging	Het
Kcnd3	G	A	3: 105,572,863 (GRCm39)		probably null	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Lcn4	C	T	2: 26,560,613 (GRCm39)		probably null	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Lrrtm2	A	G	18: 35,346,687 (GRCm39)	I205T	probably damaging	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mfap1a	T	C	2: 121,330,084 (GRCm39)	K221E	probably benign	Het
Myo7a	A	G	7: 97,746,818 (GRCm39)		probably null	Het
Ncbp3	T	C	11: 72,938,727 (GRCm39)	M1T	probably null	Het
Nck1	A	T	9: 100,379,369 (GRCm39)	M294K	probably benign	Het
Nr2f2	A	T	7: 70,010,056 (GRCm39)	W8R	probably damaging	Het
Or12e10	T	A	2: 87,640,187 (GRCm39)	S8T	possibly damaging	Het
Or1e20-ps1	T	A	11: 73,324,818 (GRCm39)	Q78L	unknown	Het
Or4c12b	A	T	2: 89,647,553 (GRCm39)	R288S	probably damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Or8j3c	A	T	2: 86,253,707 (GRCm39)	F104L	probably damaging	Het
Pcdha1	A	G	18: 37,065,286 (GRCm39)	K650R	probably benign	Het
Pgm1	T	A	4: 99,841,242 (GRCm39)	I532N	probably damaging	Het
Pik3c2a	T	A	7: 115,939,321 (GRCm39)	K1672N	probably benign	Het
Pou3f1	G	A	4: 124,552,835 (GRCm39)	G446S	probably benign	Het
Ppm1j	T	C	3: 104,693,134 (GRCm39)	I497T	probably damaging	Het
Pprc1	C	T	19: 46,056,500 (GRCm39)	Q1202*	probably null	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Prdm15	T	C	16: 97,607,704 (GRCm39)	N713S	probably damaging	Het
Ptprb	A	G	10: 116,138,142 (GRCm39)	T62A	probably benign	Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Ranbp3l	A	T	15: 9,037,176 (GRCm39)	R149*	probably null	Het
Resf1	T	A	6: 149,229,793 (GRCm39)	Y946*	probably null	Het
Rfx4	T	A	10: 84,674,050 (GRCm39)	M1K	probably null	Het
Ripk4	G	T	16: 97,547,098 (GRCm39)	S388*	probably null	Het
Rnft1	T	G	11: 86,377,065 (GRCm39)	I43R	possibly damaging	Het
Setbp1	A	T	18: 78,899,781 (GRCm39)	F1295L	probably damaging	Het
Sez6	A	G	11: 77,865,409 (GRCm39)	D682G	probably damaging	Het
Slc1a1	T	C	19: 28,812,734 (GRCm39)		probably null	Het
Slc7a5	G	T	8: 122,613,616 (GRCm39)	T312K	probably benign	Het
Slco4c1	A	T	1: 96,799,643 (GRCm39)	N64K	probably benign	Het
Spata13	C	T	14: 60,929,849 (GRCm39)	T469I	probably benign	Het
Stxbp5	T	A	10: 9,687,754 (GRCm39)	N440I	probably benign	Het
Tas2r114	T	A	6: 131,666,746 (GRCm39)	Q94L	probably benign	Het
Tasor	T	A	14: 27,186,271 (GRCm39)	C823*	probably null	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Thap7	A	G	16: 17,348,152 (GRCm39)	Y60H	probably damaging	Het
Tjap1	G	T	17: 46,569,733 (GRCm39)	P409H	probably damaging	Het
Tmtc4	G	A	14: 123,209,204 (GRCm39)	A147V	probably benign	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trafd1	T	C	5: 121,516,837 (GRCm39)	N122S	possibly damaging	Het
Vmn1r151	T	A	7: 22,199,096 (GRCm39)	D3V	probably benign	Het
Wdr20rt	A	G	12: 65,272,825 (GRCm39)	Y96C	probably damaging	Het
Zfp507	A	G	7: 35,475,573 (GRCm39)	V880A	probably benign	Het
Zfp598	A	G	17: 24,896,568 (GRCm39)	D215G	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp738	A	T	13: 67,817,635 (GRCm39)	C785*	probably null	Het
Zfp985	C	T	4: 147,667,999 (GRCm39)	T289I	probably damaging	Het
Zkscan6	T	A	11: 65,712,795 (GRCm39)	Y243N	probably damaging	Het

Other mutations in Adh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Adh1	APN	3	137,988,260 (GRCm39)	missense	probably benign	0.00
IGL00510:Adh1	APN	3	137,995,668 (GRCm39)	missense	probably damaging	1.00
IGL01326:Adh1	APN	3	137,992,672 (GRCm39)	missense	probably damaging	1.00
IGL01662:Adh1	APN	3	137,988,512 (GRCm39)	missense	possibly damaging	0.96
IGL02090:Adh1	APN	3	137,988,546 (GRCm39)	missense	possibly damaging	0.95
PIT4687001:Adh1	UTSW	3	137,995,596 (GRCm39)	missense	probably damaging	1.00
R0413:Adh1	UTSW	3	137,986,193 (GRCm39)	missense	probably benign	0.00
R0882:Adh1	UTSW	3	137,992,558 (GRCm39)	missense	possibly damaging	0.65
R1426:Adh1	UTSW	3	137,992,556 (GRCm39)	missense	probably damaging	1.00
R1464:Adh1	UTSW	3	137,994,508 (GRCm39)	critical splice acceptor site	probably null
R1464:Adh1	UTSW	3	137,994,508 (GRCm39)	critical splice acceptor site	probably null
R1901:Adh1	UTSW	3	137,994,558 (GRCm39)	missense	probably benign	0.00
R2056:Adh1	UTSW	3	137,992,676 (GRCm39)	missense	probably damaging	1.00
R2095:Adh1	UTSW	3	137,988,557 (GRCm39)	missense	probably damaging	1.00
R3155:Adh1	UTSW	3	137,986,250 (GRCm39)	missense	probably damaging	0.99
R3752:Adh1	UTSW	3	137,994,555 (GRCm39)	missense	probably benign
R3795:Adh1	UTSW	3	137,985,526 (GRCm39)	missense	possibly damaging	0.85
R4351:Adh1	UTSW	3	137,986,258 (GRCm39)	missense	probably benign	0.21
R4698:Adh1	UTSW	3	137,988,274 (GRCm39)	missense	probably benign	0.05
R4747:Adh1	UTSW	3	137,994,642 (GRCm39)	missense	probably damaging	1.00
R5626:Adh1	UTSW	3	137,986,171 (GRCm39)	missense	probably benign	0.04
R6014:Adh1	UTSW	3	137,992,559 (GRCm39)	missense	probably benign	0.00
R6060:Adh1	UTSW	3	137,992,544 (GRCm39)	missense	probably damaging	1.00
R6225:Adh1	UTSW	3	137,995,565 (GRCm39)	missense	probably benign	0.04
R6637:Adh1	UTSW	3	137,988,231 (GRCm39)	nonsense	probably null
R7129:Adh1	UTSW	3	137,986,235 (GRCm39)	missense	probably damaging	0.98
R7288:Adh1	UTSW	3	137,988,493 (GRCm39)	missense	probably benign
R7291:Adh1	UTSW	3	137,988,569 (GRCm39)	missense	probably damaging	1.00
R7367:Adh1	UTSW	3	137,996,312 (GRCm39)	missense	probably benign	0.04
R7378:Adh1	UTSW	3	137,994,648 (GRCm39)	splice site	probably null
R7453:Adh1	UTSW	3	137,995,702 (GRCm39)	critical splice donor site	probably null
R7613:Adh1	UTSW	3	137,992,592 (GRCm39)	nonsense	probably null
R8848:Adh1	UTSW	3	137,986,262 (GRCm39)	missense	probably benign	0.12
Z1187:Adh1	UTSW	3	137,992,544 (GRCm39)	missense	probably damaging	1.00
Z1190:Adh1	UTSW	3	137,992,544 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCACACTGCTTTGTTCTG -3'
(R):5'- CTCAAGTGTGTGGAGTGAATTC -3'

Sequencing Primer
(F):5'- AACCAGTCTGCTAATGCCTCGG -3'
(R):5'- AATTCTCACTGGGGCTGGAGAG -3'

Posted On

2022-07-18