Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Adh7'

446553

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

043327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137923521-137939143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137932087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 234 (A234T)

Ref Sequence

ENSEMBL: ENSMUSP00000087633 (fasta)

Gene Model

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

AlphaFold

Q64437

Predicted Effect

probably benign
Transcript: ENSMUST00000090171
AA Change: A234T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: A234T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	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
R5765:Adh7	UTSW	3	137,932,090 (GRCm39)	missense	probably benign	0.37
R6383:Adh7	UTSW	3	137,933,778 (GRCm39)	missense	probably benign	0.09
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'- TTCATCTGGCCCACGTCATG -3'
(R):5'- ACATCTTGTAGCTTGGGCACTTTG -3'

Sequencing Primer
(F):5'- ACACTGAGAATGCTTTGCCG -3'
(R):5'- GTGGCTTCCTGAATCTTGAGTCTTAC -3'

Posted On

2016-11-21