Mutagenetix > Incidental Mutations

Incidental Mutation 'R7013:Adhfe1'

568470

Institutional Source

Beutler Lab

Gene Symbol

Adhfe1

Ensembl Gene

ENSMUSG00000025911

Gene Name

alcohol dehydrogenase, iron containing, 1

Synonyms

6330565B14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7013 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

9547948-9580673 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 9550591 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000072079] [ENSMUST00000130927] [ENSMUST00000144177] [ENSMUST00000186467]

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

probably benign
Transcript: ENSMUST00000072079

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
Pfam:RRS1	31	193	3.5e-62	PFAM
low complexity region	302	337	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000130927
AA Change: V43A

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

probably benign
Transcript: ENSMUST00000186467

Predicted Effect

probably benign
Transcript: ENSMUST00000190654

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,641,386	I213V	probably null	Het
Abcc4	A	T	14: 118,526,343	C952S	probably benign	Het
Apob	T	A	12: 8,010,080	L2854*	probably null	Het
Arhgap5	T	A	12: 52,518,326	N693K	probably benign	Het
Arid5b	A	G	10: 68,097,819	V508A	probably damaging	Het
Atl1	A	G	12: 69,953,440	E288G	probably damaging	Het
Bank1	A	G	3: 136,100,509	S455P	possibly damaging	Het
Ces1c	A	T	8: 93,130,764	L63Q	probably damaging	Het
Crmp1	A	T	5: 37,268,692		probably null	Het
Csnka2ip	T	C	16: 64,478,417	D528G	unknown	Het
Dact2	T	C	17: 14,203,534	T66A	probably benign	Het
Dkk2	T	C	3: 132,174,999	L135P	probably damaging	Het
Drc3	A	G	11: 60,387,303	N381S	probably benign	Het
Dsg4	T	C	18: 20,458,521	V439A	possibly damaging	Het
Dysf	C	T	6: 84,137,358	P1240S	probably damaging	Het
Esyt1	A	T	10: 128,525,651	V58E	probably damaging	Het
Exo1	G	T	1: 175,893,772	A326S	probably damaging	Het
Fam20b	A	G	1: 156,690,565	S220P	probably damaging	Het
Fmo6	G	A	1: 162,918,248	T402I	probably benign	Het
Galnt10	A	T	11: 57,765,584	D198V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gsap	A	T	5: 21,278,110	E604D	probably benign	Het
Il20rb	A	G	9: 100,461,428	Y258H	probably benign	Het
Impg1	A	T	9: 80,378,494	S409R	probably damaging	Het
Jak3	G	T	8: 71,678,781	V97F	possibly damaging	Het
Lbhd1	T	C	19: 8,884,159	S52P	probably damaging	Het
Lman2l	A	G	1: 36,443,518		probably benign	Het
Lnpep	C	A	17: 17,568,363	M493I	probably benign	Het
Mpp4	T	C	1: 59,149,615	D132G	probably damaging	Het
Nlrp1a	G	A	11: 71,123,552	R291W	probably benign	Het
Olfr1252	T	A	2: 89,721,386	I242F	probably benign	Het
Olfr1309	G	A	2: 111,983,963	A37V	probably benign	Het
Olfr142	C	T	2: 90,252,097	R297Q	possibly damaging	Het
Olfr382	G	T	11: 73,516,421	Y259*	probably null	Het
Olfr733	T	A	14: 50,299,199	I37F	probably damaging	Het
Orc5	A	G	5: 22,533,789	V158A	probably benign	Het
Pcdhga3	A	G	18: 37,675,621	N376D	probably damaging	Het
Ptprr	T	A	10: 116,236,754	I207N	probably damaging	Het
Recql5	A	G	11: 115,894,576	V698A	probably benign	Het
Rnf212	A	T	5: 108,729,960	M222K	probably benign	Het
Rsph6a	A	G	7: 19,054,895	S51G	probably benign	Het
Smap2	T	C	4: 120,982,168	K121E	probably damaging	Het
Syt11	A	T	3: 88,747,989	V335D	possibly damaging	Het
Terb1	A	T	8: 104,488,590	C251*	probably null	Het
Tmprss11d	C	A	5: 86,326,573	R37L	probably damaging	Het
Ttbk2	T	C	2: 120,745,784	N904S	possibly damaging	Het
Vmn1r119	T	A	7: 21,011,789	I223F	probably damaging	Het
Vmn1r66	T	C	7: 10,274,756	R117G	possibly damaging	Het
Zfp106	T	C	2: 120,531,632	D1025G	probably damaging	Het

Other mutations in Adhfe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Adhfe1	APN	1	9566863	missense	probably benign
IGL01735:Adhfe1	APN	1	9548148	missense	possibly damaging	0.90
IGL02862:Adhfe1	APN	1	9553811	missense	probably damaging	1.00
IGL02891:Adhfe1	APN	1	9558171	missense	probably benign
IGL03198:Adhfe1	APN	1	9549952	splice site	probably benign
IGL03297:Adhfe1	APN	1	9549948	splice site	probably benign
R0095:Adhfe1	UTSW	1	9560177	missense	possibly damaging	0.79
R0180:Adhfe1	UTSW	1	9563857	missense	probably benign	0.00
R0347:Adhfe1	UTSW	1	9553430	missense	probably benign	0.00
R0590:Adhfe1	UTSW	1	9548153	critical splice donor site	probably null
R1509:Adhfe1	UTSW	1	9553446	missense	probably benign	0.03
R1606:Adhfe1	UTSW	1	9553473	critical splice donor site	probably null
R1720:Adhfe1	UTSW	1	9566900	missense	probably benign	0.01
R2048:Adhfe1	UTSW	1	9563553	missense	probably benign	0.00
R3918:Adhfe1	UTSW	1	9576216	missense	probably damaging	0.99
R4375:Adhfe1	UTSW	1	9561628	intron	probably benign
R4576:Adhfe1	UTSW	1	9553754	missense	probably damaging	1.00
R4653:Adhfe1	UTSW	1	9550578	intron	probably benign
R4724:Adhfe1	UTSW	1	9576250	missense	probably damaging	0.99
R4760:Adhfe1	UTSW	1	9563523	missense	probably damaging	0.97
R4859:Adhfe1	UTSW	1	9558213	missense	probably damaging	1.00
R4967:Adhfe1	UTSW	1	9566804	missense	probably benign	0.11
R4970:Adhfe1	UTSW	1	9558238	missense	possibly damaging	0.92
R5087:Adhfe1	UTSW	1	9561626	intron	probably benign
R6146:Adhfe1	UTSW	1	9553718	missense	probably damaging	0.98
R7084:Adhfe1	UTSW	1	9566805	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGAATGTTTAGGTTCTTGAGGAGC -3'
(R):5'- GCTGAAAACAAAATTGTGCCTG -3'

Sequencing Primer
(F):5'- AGGAGCAAGTCTTTTGGGG -3'
(R):5'- TTTTTCCAGGGGCGAGATCCC -3'

Posted On

2019-07-31