Mutagenetix > Incidental Mutation

Incidental Mutation 'R0785:Adh6a'

76809

Institutional Source

Beutler Lab

Gene Symbol

Adh6a

Ensembl Gene

ENSMUSG00000053054

Gene Name

alcohol dehydrogenase 6A (class V)

Synonyms

1810009C16Rik, Adh5a

MMRRC Submission

038965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0785 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

138019047-138036895 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 138034829 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

1x: 99.1%
3x: 98.2%
10x: 95.1%
20x: 87.1%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,893,380 (GRCm39)	G1277R	probably damaging	Het
Adam10	A	G	9: 70,675,170 (GRCm39)	E593G	possibly damaging	Het
Akap6	T	A	12: 52,933,405 (GRCm39)	I299N	probably benign	Het
Bltp1	T	C	3: 37,013,483 (GRCm39)		probably benign	Het
Bod1l	A	T	5: 41,977,359 (GRCm39)	N1318K	probably benign	Het
Ccdc121rt2	A	G	5: 112,598,434 (GRCm39)	D327G	probably benign	Het
Eif2b2	C	A	12: 85,268,335 (GRCm39)	T170K	probably damaging	Het
Ermard	T	A	17: 15,242,239 (GRCm39)	H138Q	probably damaging	Het
Ern2	A	T	7: 121,770,884 (GRCm39)		probably null	Het
Fkbp11	T	C	15: 98,624,430 (GRCm39)	K108R	probably damaging	Het
Golgb1	A	G	16: 36,719,152 (GRCm39)	K353E	possibly damaging	Het
Hipk1	G	T	3: 103,661,641 (GRCm39)		probably null	Het
Itga4	A	G	2: 79,119,649 (GRCm39)	D485G	possibly damaging	Het
Krt1c	C	A	15: 101,726,356 (GRCm39)	G61C	unknown	Het
Med12l	T	A	3: 59,168,253 (GRCm39)	L1561Q	probably damaging	Het
Mtmr14	T	C	6: 113,254,908 (GRCm39)		probably null	Het
Myorg	A	G	4: 41,497,539 (GRCm39)	V697A	probably benign	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Nav2	T	A	7: 49,070,081 (GRCm39)	H251Q	probably benign	Het
Nphp4	A	G	4: 152,646,566 (GRCm39)	D1366G	possibly damaging	Het
Or2b7	A	G	13: 21,739,958 (GRCm39)	V78A	probably benign	Het
Or6c75	A	G	10: 129,336,750 (GRCm39)		probably null	Het
Pde6c	A	C	19: 38,121,628 (GRCm39)	M79L	probably benign	Het
Pld5	C	T	1: 175,803,018 (GRCm39)		probably benign	Het
Polr1g	G	C	7: 19,091,210 (GRCm39)	S299C	probably benign	Het
Rps6kc1	A	G	1: 190,541,142 (GRCm39)	V387A	probably damaging	Het
Tas2r136	T	C	6: 132,754,890 (GRCm39)	D79G	probably benign	Het
Tmem243	A	T	5: 9,168,488 (GRCm39)	K90I	probably damaging	Het
Topbp1	A	G	9: 103,192,289 (GRCm39)	H260R	probably damaging	Het
Trappc1	A	G	11: 69,215,636 (GRCm39)		probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Zfp300	T	C	X: 20,949,164 (GRCm39)	Y200C	possibly damaging	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
IGL02942:Adh6a	APN	3	138,030,642 (GRCm39)	missense	probably damaging	1.00
IGL03162:Adh6a	APN	3	138,034,880 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACATTTGTCACCCAATGGCTTCTCG -3'
(R):5'- CGCTTTTCCTGAATGAAACAGCTCC -3'

Sequencing Primer
(F):5'- ggacacacacaaggaaatcag -3'
(R):5'- TGAAACAGCTCCAAGGCTTC -3'

Posted On

2013-10-16