Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01353:Adhfe1'

75443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adhfe1

Ensembl Gene

ENSMUSG00000025911

Gene Name

alcohol dehydrogenase, iron containing, 1

Synonyms

6330565B14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL01353

Quality Score

Status

Chromosome

Chromosomal Location

9547948-9580673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9566863 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 413 (N413K)

Ref Sequence

ENSEMBL: ENSMUSP00000116627 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115480

Predicted Effect

probably benign
Transcript: ENSMUST00000144177
AA Change: N413K

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

SMART Domains

Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: N413K

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

unknown
Transcript: ENSMUST00000190654
AA Change: N404K

Coding Region Coverage

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,352,108	V1304E	possibly damaging	Het
Acr	T	C	15: 89,569,492	L78P	probably damaging	Het
Adamts12	T	C	15: 11,292,005		probably benign	Het
Adgrb2	T	C	4: 130,012,300	S872P	probably damaging	Het
Apoh	T	A	11: 108,397,385	C110S	probably damaging	Het
Arhgap11a	A	G	2: 113,833,524	F805L	probably damaging	Het
BC049730	G	T	7: 24,714,237	S226I	probably damaging	Het
Bin3	C	T	14: 70,134,826	L191F	possibly damaging	Het
Col3a1	A	G	1: 45,333,638		probably benign	Het
Dapp1	T	C	3: 137,961,480	K107R	probably benign	Het
Dnah5	T	C	15: 28,233,272	V259A	probably benign	Het
Dnah6	T	C	6: 73,173,456	M775V	probably benign	Het
Dnah9	A	G	11: 66,080,571	L1597P	probably damaging	Het
Elfn2	G	A	15: 78,672,418	A643V	possibly damaging	Het
Epha6	T	C	16: 60,424,895	T314A	probably damaging	Het
Fn1	C	A	1: 71,586,939	W2237L	probably damaging	Het
Foxp4	T	A	17: 47,888,153	D97V	probably damaging	Het
Kcnb2	C	A	1: 15,710,824	T640K	probably benign	Het
Miga2	G	A	2: 30,371,233		probably null	Het
Nacad	T	A	11: 6,600,530	Q887L	possibly damaging	Het
Olfr1058	A	T	2: 86,386,021	Y132*	probably null	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr464	T	C	11: 87,914,172	I245V	probably benign	Het
Olfr866	T	C	9: 20,027,047	N297S	probably damaging	Het
Otub2	A	T	12: 103,404,322	M288L	probably benign	Het
Otud4	A	G	8: 79,665,021	S432G	probably benign	Het
Pcca	G	A	14: 122,582,617	V58I	probably damaging	Het
Pdpr	T	A	8: 111,121,278		probably null	Het
Pinx1	C	A	14: 63,866,115	Q48K	probably benign	Het
Pkd1l2	G	T	8: 117,057,443	S698R	probably benign	Het
Psg29	A	G	7: 17,205,013	R71G	possibly damaging	Het
Psmd3	T	A	11: 98,690,600	V271E	probably benign	Het
Smarcc1	A	G	9: 110,135,666	N97S	probably benign	Het
Sulf2	C	T	2: 166,087,095	G319S	probably damaging	Het
Tmem67	C	A	4: 12,079,895	C132F	probably damaging	Het
Ttll7	T	C	3: 146,961,719	L780P	probably damaging	Het
Vmn1r223	A	G	13: 23,249,256	T7A	unknown	Het
Vmn1r76	T	G	7: 11,930,810	H159P	probably damaging	Het
Vnn1	G	A	10: 23,900,840	C363Y	probably damaging	Het
Wdr64	T	G	1: 175,731,585	L305V	probably damaging	Het
Zkscan4	T	C	13: 21,484,348	L323P	probably damaging	Het
Zscan10	A	T	17: 23,609,600	H295L	probably damaging	Het

Other mutations in Adhfe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7013:Adhfe1	UTSW	1	9550591	intron	probably benign
R7084:Adhfe1	UTSW	1	9566805	missense	probably benign
R8024:Adhfe1	UTSW	1	9563855	missense	probably benign	0.05
R8258:Adhfe1	UTSW	1	9558192	missense	probably null	0.00
R8259:Adhfe1	UTSW	1	9558192	missense	probably null	0.00
R8742:Adhfe1	UTSW	1	9560176	missense	probably benign	0.02

Posted On

2013-10-07