Mutagenetix > Incidental Mutation

Incidental Mutation 'R6383:Adh7'

515423

Institutional Source

Beutler Lab

Gene Symbol

Adh7

Ensembl Gene

ENSMUSG00000055301

Gene Name

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

Synonyms

Adh-3e, IV ADH, Adt-1, Adh-3t, Adh-3, Adh4, Adh3-t, Adh3-e, Adh3

MMRRC Submission

044532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137923521-137939143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137933778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 312 (R312C)

Ref Sequence

ENSEMBL: ENSMUSP00000087633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090171]

AlphaFold

Q64437

Predicted Effect

probably benign
Transcript: ENSMUST00000090171
AA Change: R312C

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: R312C

Domain	Start	End	E-Value	Type
Pfam:ADH_N	34	160	6.6e-27	PFAM
Pfam:ADH_zinc_N	202	337	2e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199865

Meta Mutation Damage Score

0.2254

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in defective ethanol clearance and reduced metabolism of retinal to retinoic acid. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cldn15	A	G	5: 136,996,979 (GRCm39)	T7A	probably benign	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,666,452 (GRCm39)	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nat1	T	C	8: 67,944,134 (GRCm39)	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or4k47	T	A	2: 111,451,531 (GRCm39)	N296I	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Srpk1	A	G	17: 28,809,036 (GRCm39)	S648P	probably damaging	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Vwce	T	A	19: 10,636,956 (GRCm39)	C679*	probably null	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	probably damaging	Het

Other mutations in Adh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00695:Adh7	APN	3	137,927,495 (GRCm39)	missense	probably benign	0.31
IGL01596:Adh7	APN	3	137,932,003 (GRCm39)	missense	probably damaging	1.00
IGL01960:Adh7	APN	3	137,932,043 (GRCm39)	missense	probably damaging	1.00
IGL02792:Adh7	APN	3	137,929,498 (GRCm39)	missense	probably damaging	1.00
IGL03192:Adh7	APN	3	137,933,721 (GRCm39)	missense	probably damaging	1.00
R1127:Adh7	UTSW	3	137,927,490 (GRCm39)	missense	probably benign	0.01
R1539:Adh7	UTSW	3	137,929,716 (GRCm39)	missense	possibly damaging	0.51
R1612:Adh7	UTSW	3	137,934,642 (GRCm39)	missense	possibly damaging	0.81
R1779:Adh7	UTSW	3	137,929,752 (GRCm39)	missense	probably damaging	0.99
R3912:Adh7	UTSW	3	137,927,541 (GRCm39)	missense	probably damaging	1.00
R3913:Adh7	UTSW	3	137,927,541 (GRCm39)	missense	probably damaging	1.00
R5699:Adh7	UTSW	3	137,932,087 (GRCm39)	missense	probably benign	0.00
R5765:Adh7	UTSW	3	137,932,090 (GRCm39)	missense	probably benign	0.37
R6520:Adh7	UTSW	3	137,929,771 (GRCm39)	missense	probably damaging	1.00
R6883:Adh7	UTSW	3	137,929,825 (GRCm39)	missense	probably damaging	1.00
R7081:Adh7	UTSW	3	137,934,606 (GRCm39)	missense	probably benign
R7821:Adh7	UTSW	3	137,932,136 (GRCm39)	missense	probably damaging	1.00
R7921:Adh7	UTSW	3	137,929,771 (GRCm39)	missense	probably damaging	1.00
R8300:Adh7	UTSW	3	137,929,825 (GRCm39)	missense	probably damaging	1.00
R9200:Adh7	UTSW	3	137,927,567 (GRCm39)	missense	probably benign	0.03
R9395:Adh7	UTSW	3	137,927,477 (GRCm39)	missense	probably damaging	1.00
R9558:Adh7	UTSW	3	137,932,043 (GRCm39)	missense	probably damaging	1.00
R9774:Adh7	UTSW	3	137,929,847 (GRCm39)	nonsense	probably null
Z1176:Adh7	UTSW	3	137,929,492 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TACTGGAACCTTGGCCATCC -3'
(R):5'- TCTCAGACATAAGGAACAGATAGC -3'

Sequencing Primer
(F):5'- CTTTGGTCATTTCCGAGTCCACAATC -3'
(R):5'- AGGAACAGATAGCTATCTTTTGTGTG -3'

Posted On

2018-05-04