Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02535:Adh6a'

297477

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: 0.095) question?

Stock #

IGL02535

Quality Score

Status

Chromosome

Chromosomal Location

138019047-138036895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138033151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 281 (N281D)

Ref Sequence

ENSEMBL: ENSMUSP00000101854 (fasta)

Gene Model

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

AlphaFold

E9Q5Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000013455
AA Change: N281D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013455
Gene: ENSMUSG00000053054
AA Change: N281D

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
AA Change: N281D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101854
Gene: ENSMUSG00000053054
AA Change: N281D

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	T	6: 142,574,152 (GRCm39)	D993E	probably benign	Het
Acap1	T	C	11: 69,773,520 (GRCm39)	N430D	probably benign	Het
Actl11	T	A	9: 107,807,136 (GRCm39)	D486E	possibly damaging	Het
Apon	A	T	10: 128,090,823 (GRCm39)	E167V	probably damaging	Het
Bahcc1	T	A	11: 120,178,362 (GRCm39)	M2307K	possibly damaging	Het
Cdca3	A	G	6: 124,807,521 (GRCm39)	T10A	probably damaging	Het
Cplane1	T	G	15: 8,204,322 (GRCm39)	V65G	probably damaging	Het
Dusp16	T	C	6: 134,695,790 (GRCm39)	E347G	probably benign	Het
Dysf	A	T	6: 84,126,679 (GRCm39)	Y1298F	possibly damaging	Het
F12	T	C	13: 55,574,157 (GRCm39)	D25G	possibly damaging	Het
F5	T	A	1: 164,026,302 (GRCm39)	S1625T	probably damaging	Het
Fbxl2	T	C	9: 113,808,575 (GRCm39)	E372G	probably benign	Het
Flrt1	T	C	19: 7,074,098 (GRCm39)	I150V	probably benign	Het
Grin2b	T	A	6: 135,756,367 (GRCm39)	I453F	possibly damaging	Het
Hivep2	C	T	10: 14,015,241 (GRCm39)	R1803C	probably damaging	Het
Il33	A	G	19: 29,930,147 (GRCm39)	N81D	probably benign	Het
Ipo7	T	C	7: 109,653,233 (GRCm39)	Y977H	probably damaging	Het
Lyst	T	C	13: 13,824,927 (GRCm39)	V1514A	probably benign	Het
Map1a	C	A	2: 121,132,658 (GRCm39)	S920*	probably null	Het
Nlrp9c	T	C	7: 26,071,522 (GRCm39)	N862S	probably damaging	Het
Or1e29	A	G	11: 73,667,442 (GRCm39)	V237A	probably benign	Het
Or8k22	A	G	2: 86,163,019 (GRCm39)	M227T	probably damaging	Het
Or9s23	C	A	1: 92,500,943 (GRCm39)	Q17K	probably benign	Het
P2rx2	T	A	5: 110,490,219 (GRCm39)	T134S	probably benign	Het
Papolg	T	C	11: 23,840,245 (GRCm39)	D77G	probably benign	Het
Pkd1l3	A	T	8: 110,367,522 (GRCm39)	R1240*	probably null	Het
Radx	A	T	X: 138,393,396 (GRCm39)	K217I	probably damaging	Het
Slc22a8	A	T	19: 8,587,567 (GRCm39)	T514S	probably benign	Het
Slc39a5	T	C	10: 128,235,199 (GRCm39)	D136G	probably benign	Het
Tnn	T	C	1: 159,950,222 (GRCm39)		probably null	Het
Trav8d-2	A	T	14: 53,280,141 (GRCm39)	S44C	probably damaging	Het
Tubb1	A	G	2: 174,299,359 (GRCm39)	N347S	probably benign	Het
Ubap1	C	T	4: 41,379,667 (GRCm39)	R294*	probably null	Het
Ube2o	C	T	11: 116,432,591 (GRCm39)	V792M	probably benign	Het
Usp13	A	G	3: 32,892,075 (GRCm39)	S85G	probably benign	Het
Vmac	C	T	17: 57,022,550 (GRCm39)	M61I	probably benign	Het
Vmn1r54	T	A	6: 90,246,260 (GRCm39)	I58N	possibly damaging	Het
Zmym5	A	G	14: 57,035,123 (GRCm39)		probably null	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
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

2015-04-16