Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02942:Adh6a'

364548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adh6a

Ensembl Gene

ENSMUSG00000053054

Gene Name

alcohol dehydrogenase 6A (class V)

Synonyms

1810009C16Rik, Adh5a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02942

Quality Score

Status

Chromosome

Chromosomal Location

138019047-138036895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138030642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 88 (D88V)

Ref Sequence

ENSEMBL: ENSMUSP00000101854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013455] [ENSMUST00000106247]

AlphaFold

E9Q5Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000013455
AA Change: D88V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000013455
Gene: ENSMUSG00000053054
AA Change: D88V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	34	161	3.9e-27	PFAM
Pfam:ADH_zinc_N	203	334	1.2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106247
AA Change: D88V

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

SMART Domains

Protein: ENSMUSP00000101854
Gene: ENSMUSG00000053054
AA Change: D88V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	34	161	6.1e-25	PFAM
Pfam:ADH_zinc_N	203	334	2.4e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	C	15: 91,033,378 (GRCm39)	D679E	probably damaging	Het
Ank3	G	A	10: 69,809,707 (GRCm39)	V1123I	probably damaging	Het
Apba1	T	C	19: 23,922,335 (GRCm39)	V801A	possibly damaging	Het
Bcl2a1a	C	T	9: 88,839,095 (GRCm39)		probably benign	Het
Brd8	A	G	18: 34,743,680 (GRCm39)	V215A	possibly damaging	Het
Cdk17	G	A	10: 93,074,830 (GRCm39)	V454I	probably benign	Het
Chd5	G	A	4: 152,470,182 (GRCm39)	G1876D	probably damaging	Het
Clec4g	T	C	8: 3,768,356 (GRCm39)	E125G	probably damaging	Het
Col24a1	G	A	3: 145,247,420 (GRCm39)	G1602D	probably damaging	Het
Depdc7	A	C	2: 104,558,439 (GRCm39)	L194R	probably damaging	Het
Dgke	T	G	11: 88,946,195 (GRCm39)	N202H	probably benign	Het
Dkk2	T	A	3: 131,883,798 (GRCm39)	C233S	probably damaging	Het
Dmpk	A	C	7: 18,826,166 (GRCm39)	D542A	probably damaging	Het
Epb41l4a	G	A	18: 34,007,254 (GRCm39)	R246W	probably damaging	Het
Frmpd1	A	T	4: 45,285,493 (GRCm39)	Q1438L	probably damaging	Het
Gcgr	A	G	11: 120,427,643 (GRCm39)		probably null	Het
Gm10295	T	C	7: 71,000,250 (GRCm39)	K110R	unknown	Het
Ifrd1	A	G	12: 40,267,375 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,296,624 (GRCm39)	T365A	probably benign	Het
Kcnn3	A	G	3: 89,559,383 (GRCm39)	K551R	probably benign	Het
Lama2	A	T	10: 26,917,216 (GRCm39)	N2236K	probably damaging	Het
Larp7	A	T	3: 127,337,844 (GRCm39)	I405N	possibly damaging	Het
Meltf	C	A	16: 31,709,596 (GRCm39)	Y432*	probably null	Het
Mst1r	C	A	9: 107,790,352 (GRCm39)	T655K	possibly damaging	Het
Myh1	C	T	11: 67,093,308 (GRCm39)	P133L	probably damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or52r1c	A	T	7: 102,735,405 (GRCm39)	M222L	probably benign	Het
Or5b102	A	T	19: 13,041,552 (GRCm39)	Q259L	probably benign	Het
Or6a2	A	G	7: 106,600,561 (GRCm39)	S169P	possibly damaging	Het
Pfkl	A	T	10: 77,835,967 (GRCm39)		probably null	Het
Plekhb2	T	C	1: 34,916,073 (GRCm39)	M204T	probably damaging	Het
Ptp4a2	G	A	4: 129,738,986 (GRCm39)		probably null	Het
Rtp4	A	G	16: 23,431,704 (GRCm39)	T79A	probably benign	Het
Senp3	T	C	11: 69,568,815 (GRCm39)	D410G	probably benign	Het
Slc16a5	T	C	11: 115,360,176 (GRCm39)	F120L	possibly damaging	Het
Snrpe	T	C	1: 133,536,669 (GRCm39)	E37G	probably damaging	Het
Sorcs1	T	C	19: 50,463,875 (GRCm39)	T192A	probably damaging	Het
Spef2	T	A	15: 9,668,960 (GRCm39)	H742L	possibly damaging	Het
Syt12	T	C	19: 4,497,858 (GRCm39)	S375G	probably benign	Het
Tas2r117	T	C	6: 132,780,657 (GRCm39)	L265P	probably benign	Het
Tcp10a	T	A	17: 7,597,318 (GRCm39)	D158E	probably damaging	Het
Tesk2	A	T	4: 116,629,017 (GRCm39)	H122L	probably damaging	Het
Tut7	T	G	13: 59,959,335 (GRCm39)	N378H	probably damaging	Het
Unc93b1	T	A	19: 3,998,686 (GRCm39)	M535K	probably damaging	Het
Vangl1	C	A	3: 102,091,347 (GRCm39)	R246S	probably damaging	Het
Xpo5	C	T	17: 46,519,059 (GRCm39)	T166I	probably damaging	Het
Zmiz2	T	C	11: 6,349,500 (GRCm39)		probably benign	Het

Other mutations in Adh6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01836:Adh6a	APN	3	138,019,097 (GRCm39)	utr 5 prime	probably benign
IGL02535:Adh6a	APN	3	138,033,151 (GRCm39)	missense	probably benign
IGL03162:Adh6a	APN	3	138,034,880 (GRCm39)	nonsense	probably null
R0785:Adh6a	UTSW	3	138,034,829 (GRCm39)	splice site	probably benign
R1809:Adh6a	UTSW	3	138,036,722 (GRCm39)	missense	possibly damaging	0.68
R2065:Adh6a	UTSW	3	138,030,998 (GRCm39)	missense	probably benign	0.05
R2269:Adh6a	UTSW	3	138,034,857 (GRCm39)	missense	probably benign	0.03
R3834:Adh6a	UTSW	3	138,033,275 (GRCm39)	critical splice donor site	probably null
R3835:Adh6a	UTSW	3	138,033,275 (GRCm39)	critical splice donor site	probably null
R4616:Adh6a	UTSW	3	138,030,708 (GRCm39)	missense	probably damaging	1.00
R4652:Adh6a	UTSW	3	138,031,876 (GRCm39)	missense	probably benign	0.00
R4690:Adh6a	UTSW	3	138,031,932 (GRCm39)	missense	possibly damaging	0.50
R5481:Adh6a	UTSW	3	138,031,719 (GRCm39)	missense	probably damaging	1.00
R8152:Adh6a	UTSW	3	138,033,275 (GRCm39)	critical splice donor site	probably null
R8377:Adh6a	UTSW	3	138,031,884 (GRCm39)	missense	probably damaging	1.00
R8475:Adh6a	UTSW	3	138,030,979 (GRCm39)	missense	probably benign	0.05

Posted On

2015-12-18