Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01836:Adh6a'

154968

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 #

IGL01836

Quality Score

Status

Chromosome

Chromosomal Location

138019047-138036895 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 138019097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101854 (fasta)

Gene Model

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

AlphaFold

E9Q5Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000013455

SMART Domains

Protein: ENSMUSP00000013455
Gene: ENSMUSG00000053054

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 benign
Transcript: ENSMUST00000106247

SMART Domains

Protein: ENSMUSP00000101854
Gene: ENSMUSG00000053054

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a1	C	T	3: 101,498,730 (GRCm39)	G188R	probably damaging	Het
Cadps	A	G	14: 12,522,311 (GRCm38)	Y618H	probably damaging	Het
Dot1l	T	C	10: 80,621,700 (GRCm39)	S451P	probably benign	Het
Dpysl4	G	A	7: 138,676,089 (GRCm39)	V294I	possibly damaging	Het
Ehmt1	T	A	2: 24,753,232 (GRCm39)		probably null	Het
Eps8	C	T	6: 137,460,539 (GRCm39)		probably null	Het
Gm7247	T	A	14: 51,602,853 (GRCm39)	I63K	probably damaging	Het
Gsdme	T	A	6: 50,199,769 (GRCm39)	D270V	probably damaging	Het
Kel	T	A	6: 41,674,372 (GRCm39)	T353S	possibly damaging	Het
Krt73	T	C	15: 101,704,331 (GRCm39)	H403R	probably benign	Het
Mrnip	A	G	11: 50,090,675 (GRCm39)	T280A	probably benign	Het
Or1j14	C	T	2: 36,417,837 (GRCm39)	Q138*	probably null	Het
Pkdrej	A	G	15: 85,705,159 (GRCm39)	L259P	probably damaging	Het
Plod2	T	C	9: 92,488,551 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,593,356 (GRCm39)	S415P	probably benign	Het
Rag1	A	T	2: 101,472,239 (GRCm39)	F968I	probably damaging	Het
Rreb1	T	C	13: 38,115,433 (GRCm39)	S931P	probably damaging	Het
Sec23a	T	C	12: 59,018,073 (GRCm39)	I618V	probably damaging	Het
Smtnl1	A	T	2: 84,645,714 (GRCm39)	F386I	probably damaging	Het
Sppl2b	C	T	10: 80,697,220 (GRCm39)	T30I	probably benign	Het
Srf	T	C	17: 46,860,108 (GRCm39)		probably benign	Het
Tbc1d22b	A	G	17: 29,818,932 (GRCm39)	T429A	probably damaging	Het
Tcf20	A	T	15: 82,739,356 (GRCm39)	D698E	probably damaging	Het
Tmem106c	C	A	15: 97,867,567 (GRCm39)	S250R	probably benign	Het
Tmprss3	A	G	17: 31,410,018 (GRCm39)	S199P	probably benign	Het
Ush2a	C	T	1: 188,492,060 (GRCm39)		probably benign	Het
Zfp595	A	G	13: 67,480,525 (GRCm39)		probably benign	Het

Other mutations in Adh6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02535:Adh6a	APN	3	138,033,151 (GRCm39)	missense	probably benign
IGL02942:Adh6a	APN	3	138,030,642 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04