Mutagenetix > Incidental Mutation

Incidental Mutation 'R5087:Adhfe1'

387484

Institutional Source

Beutler Lab

Gene Symbol

Adhfe1

Ensembl Gene

ENSMUSG00000025911

Gene Name

alcohol dehydrogenase, iron containing, 1

Synonyms

6330565B14Rik

MMRRC Submission

042676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9618173-9648195 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 9631851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000144177]

AlphaFold

Q8R0N6

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115480

Predicted Effect

probably benign
Transcript: ENSMUST00000144177

SMART Domains

Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911

Domain	Start	End	E-Value	Type
Pfam:Fe-ADH	50	454	2.1e-105	PFAM
Pfam:Fe-ADH_2	53	155	6.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145176

Predicted Effect

probably benign
Transcript: ENSMUST00000190654

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	T	C	9: 22,286,340 (GRCm39)	T322A	possibly damaging	Het
Best3	A	T	10: 116,844,907 (GRCm39)	Y354F	probably benign	Het
Cd44	C	T	2: 102,661,699 (GRCm39)	V509I	possibly damaging	Het
Cdk5rap1	T	C	2: 154,184,315 (GRCm39)	N529S	probably damaging	Het
Cnst	A	G	1: 179,450,378 (GRCm39)	D614G	possibly damaging	Het
Cpq	T	C	15: 33,213,008 (GRCm39)	I9T	probably benign	Het
Cyp2j6	T	C	4: 96,419,936 (GRCm39)	H265R	probably damaging	Het
Dctn1	T	A	6: 83,168,621 (GRCm39)	M458K	probably damaging	Het
Disc1	A	C	8: 125,858,899 (GRCm39)	I454L	probably benign	Het
Dnaja4	A	G	9: 54,607,023 (GRCm39)	E4G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eipr1	C	A	12: 28,878,855 (GRCm39)	N136K	probably benign	Het
Fut11	A	G	14: 20,746,229 (GRCm39)	N357S	probably damaging	Het
Gbp2b	C	T	3: 142,304,015 (GRCm39)	P37S	probably damaging	Het
Ghr	T	G	15: 3,349,622 (GRCm39)	K519Q	probably damaging	Het
Gipr	C	A	7: 18,893,689 (GRCm39)	C328F	probably damaging	Het
Gm27013	A	T	6: 130,654,633 (GRCm39)	N276K	probably damaging	Het
Got2	C	A	8: 96,598,951 (GRCm39)	K150N	probably benign	Het
Gucy2c	A	G	6: 136,744,033 (GRCm39)	S189P	possibly damaging	Het
H2-T5	C	A	17: 36,476,308 (GRCm39)	G347*	probably null	Het
Hells	T	C	19: 38,932,189 (GRCm39)	V153A	probably benign	Het
Ighd	G	A	12: 113,378,047 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,143,420 (GRCm39)	V361M	probably damaging	Het
Itga4	A	C	2: 79,145,973 (GRCm39)	D725A	possibly damaging	Het
Itgbl1	T	A	14: 124,204,151 (GRCm39)	L414Q	possibly damaging	Het
Kat2b-ps	A	G	5: 93,539,585 (GRCm39)		noncoding transcript	Het
Lrrc1	A	T	9: 77,364,740 (GRCm39)	S192T	probably benign	Het
Mc2r	A	T	18: 68,541,274 (GRCm39)	N6K	probably benign	Het
Moxd2	A	C	6: 40,856,270 (GRCm39)	L534W	probably damaging	Het
Myh4	A	T	11: 67,146,235 (GRCm39)	D1431V	probably damaging	Het
Naa15	T	A	3: 51,364,706 (GRCm39)		probably null	Het
Naa16	G	A	14: 79,614,855 (GRCm39)	T215I	possibly damaging	Het
Ntng1	A	T	3: 110,042,645 (GRCm39)	Y60*	probably null	Het
Or1e29	T	C	11: 73,668,084 (GRCm39)	Y23C	possibly damaging	Het
Or2g25	A	T	17: 37,970,612 (GRCm39)	V204E	probably damaging	Het
Pccb	T	C	9: 100,867,296 (GRCm39)		probably benign	Het
Pcnx1	C	A	12: 82,041,713 (GRCm39)	P2115Q	probably damaging	Het
Pfkfb3	G	A	2: 11,488,825 (GRCm39)	T313I	probably damaging	Het
Pld1	A	G	3: 28,178,731 (GRCm39)	N875S	probably damaging	Het
Ptpn20	A	T	14: 33,336,398 (GRCm39)	D79V	possibly damaging	Het
Rabgap1l	C	A	1: 160,549,809 (GRCm39)	V266L	probably damaging	Het
Reep6	A	G	10: 80,171,009 (GRCm39)	D295G	probably damaging	Het
Sass6	T	C	3: 116,403,947 (GRCm39)	L195P	probably damaging	Het
Slc25a27	A	G	17: 43,977,821 (GRCm39)	S25P	probably damaging	Het
Smok2b	T	A	17: 13,454,011 (GRCm39)	M57K	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sspo	T	C	6: 48,465,405 (GRCm39)	V71A	possibly damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Stard9	T	A	2: 120,527,500 (GRCm39)	Y1252*	probably null	Het
Syde2	T	A	3: 145,712,881 (GRCm39)	D1006E	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tmc5	G	A	7: 118,244,609 (GRCm39)	A496T	possibly damaging	Het
Ttn	A	G	2: 76,566,704 (GRCm39)	V28063A	probably damaging	Het
Usp25	A	C	16: 76,874,007 (GRCm39)	I528L	probably benign	Het
Vmn1r58	C	T	7: 5,413,666 (GRCm39)	S188N	probably benign	Het
Wfikkn2	A	T	11: 94,129,173 (GRCm39)	C323S	probably damaging	Het
Zfy1	A	C	Y: 732,964 (GRCm39)	S290A	unknown	Het

Other mutations in Adhfe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Adhfe1	APN	1	9,637,088 (GRCm39)	missense	probably benign
IGL01735:Adhfe1	APN	1	9,618,373 (GRCm39)	missense	possibly damaging	0.90
IGL02862:Adhfe1	APN	1	9,624,036 (GRCm39)	missense	probably damaging	1.00
IGL02891:Adhfe1	APN	1	9,628,396 (GRCm39)	missense	probably benign
IGL03198:Adhfe1	APN	1	9,620,177 (GRCm39)	splice site	probably benign
IGL03297:Adhfe1	APN	1	9,620,173 (GRCm39)	splice site	probably benign
R0095:Adhfe1	UTSW	1	9,630,402 (GRCm39)	missense	possibly damaging	0.79
R0180:Adhfe1	UTSW	1	9,634,082 (GRCm39)	missense	probably benign	0.00
R0347:Adhfe1	UTSW	1	9,623,655 (GRCm39)	missense	probably benign	0.00
R0590:Adhfe1	UTSW	1	9,618,378 (GRCm39)	critical splice donor site	probably null
R1509:Adhfe1	UTSW	1	9,623,671 (GRCm39)	missense	probably benign	0.03
R1606:Adhfe1	UTSW	1	9,623,698 (GRCm39)	critical splice donor site	probably null
R1720:Adhfe1	UTSW	1	9,637,125 (GRCm39)	missense	probably benign	0.01
R2048:Adhfe1	UTSW	1	9,633,778 (GRCm39)	missense	probably benign	0.00
R3918:Adhfe1	UTSW	1	9,646,441 (GRCm39)	missense	probably damaging	0.99
R4375:Adhfe1	UTSW	1	9,631,853 (GRCm39)	intron	probably benign
R4576:Adhfe1	UTSW	1	9,623,979 (GRCm39)	missense	probably damaging	1.00
R4653:Adhfe1	UTSW	1	9,620,803 (GRCm39)	intron	probably benign
R4724:Adhfe1	UTSW	1	9,646,475 (GRCm39)	missense	probably damaging	0.99
R4760:Adhfe1	UTSW	1	9,633,748 (GRCm39)	missense	probably damaging	0.97
R4859:Adhfe1	UTSW	1	9,628,438 (GRCm39)	missense	probably damaging	1.00
R4967:Adhfe1	UTSW	1	9,637,029 (GRCm39)	missense	probably benign	0.11
R4970:Adhfe1	UTSW	1	9,628,463 (GRCm39)	missense	possibly damaging	0.92
R6146:Adhfe1	UTSW	1	9,623,943 (GRCm39)	missense	probably damaging	0.98
R7013:Adhfe1	UTSW	1	9,620,816 (GRCm39)	intron	probably benign
R7084:Adhfe1	UTSW	1	9,637,030 (GRCm39)	missense	probably benign
R8024:Adhfe1	UTSW	1	9,634,080 (GRCm39)	missense	probably benign	0.05
R8258:Adhfe1	UTSW	1	9,628,417 (GRCm39)	missense	probably null	0.00
R8259:Adhfe1	UTSW	1	9,628,417 (GRCm39)	missense	probably null	0.00
R8742:Adhfe1	UTSW	1	9,630,401 (GRCm39)	missense	probably benign	0.02
R9149:Adhfe1	UTSW	1	9,627,276 (GRCm39)	missense	probably benign	0.00
R9210:Adhfe1	UTSW	1	9,637,036 (GRCm39)	missense	possibly damaging	0.94
R9212:Adhfe1	UTSW	1	9,637,036 (GRCm39)	missense	possibly damaging	0.94
R9729:Adhfe1	UTSW	1	9,623,634 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGCACATTTCCAATAGTTAACACTC -3'
(R):5'- AAACTGTATTCATGTATGAGTGGTCTG -3'

Sequencing Primer
(F):5'- cagctcacttgtaatccca -3'
(R):5'- ACAGATCCCATTATAGGTGGCTG -3'

Posted On

2016-06-06