Mutagenetix > Incidental Mutation

Incidental Mutation 'R8024:Adhfe1'

617550

Institutional Source

Beutler Lab

Gene Symbol

Adhfe1

Ensembl Gene

ENSMUSG00000025911

Gene Name

alcohol dehydrogenase, iron containing, 1

Synonyms

6330565B14Rik

MMRRC Submission

067463-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R8024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9618173-9648195 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9634080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 373 (M373K)

Ref Sequence

ENSEMBL: ENSMUSP00000116627 (fasta)

Gene Model

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

AlphaFold

Q8R0N6

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

probably benign
Transcript: ENSMUST00000144177
AA Change: M373K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: M373K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,713 (GRCm39)	N1257Y	probably benign	Het
2310057J18Rik	A	T	10: 28,858,591 (GRCm39)	Y133*	probably null	Het
2310057J18Rik	A	C	10: 28,862,213 (GRCm39)	S26A	possibly damaging	Het
9930012K11Rik	G	T	14: 70,394,116 (GRCm39)	P220T	probably damaging	Het
Adam1b	A	C	5: 121,638,986 (GRCm39)	S686R	probably benign	Het
Adam8	T	C	7: 139,567,489 (GRCm39)	D418G	probably damaging	Het
Adcy8	A	G	15: 64,792,095 (GRCm39)	L287P	probably damaging	Het
Alpk2	T	C	18: 65,438,106 (GRCm39)	S1096G	probably benign	Het
Ankmy1	A	G	1: 92,812,716 (GRCm39)	V531A	probably benign	Het
Ano3	C	T	2: 110,498,128 (GRCm39)	E738K	probably damaging	Het
Ano4	T	A	10: 88,807,194 (GRCm39)	I796F	probably damaging	Het
Apeh	T	C	9: 107,969,790 (GRCm39)	E190G	probably benign	Het
Atpsckmt	T	C	15: 31,608,317 (GRCm39)	Y123H	probably damaging	Het
Cadm3	A	G	1: 173,165,622 (GRCm39)	L346P	probably damaging	Het
Ccdc9b	A	G	2: 118,591,005 (GRCm39)		probably null	Het
Clec2e	G	A	6: 129,071,388 (GRCm39)	H150Y	possibly damaging	Het
Cnga4	A	T	7: 105,056,042 (GRCm39)	N318Y	probably damaging	Het
Cnr2	T	A	4: 135,644,196 (GRCm39)	F91L	probably damaging	Het
Diaph3	T	A	14: 86,893,835 (GRCm39)	E1147V	probably damaging	Het
Elmo2	T	C	2: 165,133,775 (GRCm39)	T738A	unknown	Het
Exoc4	T	A	6: 33,324,866 (GRCm39)	W387R	probably damaging	Het
Focad	T	C	4: 88,315,237 (GRCm39)	V1379A	unknown	Het
Frmd4a	T	C	2: 4,608,513 (GRCm39)	S794P	probably damaging	Het
Ftl1-ps1	A	G	13: 74,555,170 (GRCm39)	T150A	probably benign	Het
Gm43517	A	T	12: 49,436,409 (GRCm39)		probably benign	Het
Gm5773	C	T	3: 93,680,475 (GRCm39)	A49V	probably benign	Het
Helz	T	A	11: 107,577,247 (GRCm39)	L1867Q	unknown	Het
Il22ra1	A	G	4: 135,461,589 (GRCm39)	H118R	probably benign	Het
Inf2	C	T	12: 112,575,336 (GRCm39)	P856S	unknown	Het
Ints5	T	A	19: 8,873,504 (GRCm39)	L488I	probably damaging	Het
Iqca1l	A	G	5: 24,755,634 (GRCm39)	M296T	possibly damaging	Het
Kifc1	G	A	17: 34,102,177 (GRCm39)	R479C	probably damaging	Het
Lrba	T	A	3: 86,202,708 (GRCm39)	C289*	probably null	Het
Mael	A	G	1: 166,054,196 (GRCm39)	L196S	probably damaging	Het
Med23	T	A	10: 24,755,581 (GRCm39)	S229R	possibly damaging	Het
Mroh9	T	C	1: 162,866,802 (GRCm39)	N645D	probably benign	Het
Myom3	G	A	4: 135,529,059 (GRCm39)	V1132I	probably benign	Het
Naalad2	T	G	9: 18,308,769 (GRCm39)		probably benign	Het
Ndufa13	A	T	8: 70,347,187 (GRCm39)	L71H	probably damaging	Het
Nepro	A	T	16: 44,551,778 (GRCm39)	H212L	probably benign	Het
Nmd3	T	A	3: 69,637,298 (GRCm39)		probably benign	Het
Nox4	T	A	7: 86,954,118 (GRCm39)	L141Q	probably damaging	Het
Or4a81	T	C	2: 89,619,390 (GRCm39)	E102G	probably benign	Het
Or5p53	T	C	7: 107,533,645 (GRCm39)	V306A	probably benign	Het
Or5p58	T	A	7: 107,694,496 (GRCm39)	T94S	probably benign	Het
Or6c215	T	G	10: 129,637,812 (GRCm39)	E194A	probably damaging	Het
Or8s2	T	A	15: 98,276,878 (GRCm39)	M38L	probably benign	Het
Pfpl	A	G	19: 12,407,570 (GRCm39)	D607G	possibly damaging	Het
Pkd1l2	A	T	8: 117,802,921 (GRCm39)	F233L	possibly damaging	Het
Prl6a1	A	G	13: 27,502,678 (GRCm39)		probably benign	Het
Ptprz1	A	T	6: 23,042,750 (GRCm39)	E2058V	probably damaging	Het
Rag1	A	T	2: 101,472,852 (GRCm39)	N763K	probably damaging	Het
Rhbg	A	C	3: 88,155,760 (GRCm39)	D63E	probably damaging	Het
Rrm1	T	A	7: 102,106,472 (GRCm39)	F330L	probably benign	Het
Scaf8	A	T	17: 3,209,568 (GRCm39)	Q97L	unknown	Het
Sdr9c7	G	A	10: 127,734,751 (GRCm39)	V80I	probably benign	Het
Slc18a1	A	G	8: 69,527,799 (GRCm39)	V4A	probably benign	Het
Slco3a1	T	A	7: 74,204,218 (GRCm39)	I41F	probably benign	Het
Slirp	T	C	12: 87,494,370 (GRCm39)	V45A	probably damaging	Het
Spata31	A	T	13: 65,070,618 (GRCm39)	Q922L	probably benign	Het
Spg11	A	G	2: 121,927,802 (GRCm39)	S661P	possibly damaging	Het
Stab2	G	T	10: 86,681,916 (GRCm39)	T2495K	probably benign	Het
Supt16	A	G	14: 52,408,332 (GRCm39)	I871T	probably damaging	Het
Sval2	A	G	6: 41,837,298 (GRCm39)	Q9R	probably damaging	Het
Syngap1	A	T	17: 27,160,426 (GRCm39)	M1L	probably benign	Het
Tfpi	A	T	2: 84,284,266 (GRCm39)	M62K	possibly damaging	Het
Tm4sf1	A	T	3: 57,195,186 (GRCm39)	Y200*	probably null	Het
Tmc1	A	T	19: 20,878,181 (GRCm39)	W105R	probably damaging	Het
Tmtc2	T	C	10: 105,025,987 (GRCm39)	E827G	probably benign	Het
Tollip	T	C	7: 141,446,563 (GRCm39)	I33V	probably benign	Het
Unc80	T	A	1: 66,645,803 (GRCm39)	V1493D	possibly damaging	Het
Vmn2r6	G	A	3: 64,467,245 (GRCm39)	R85W	probably benign	Het
Vwa5a	C	A	9: 38,647,316 (GRCm39)	S565*	probably null	Het
Xbp1	T	A	11: 5,471,910 (GRCm39)	V12D	probably benign	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
R5087:Adhfe1	UTSW	1	9,631,851 (GRCm39)	intron	probably benign
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
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'- AACCCTGGCAAGAACTCTG -3'
(R):5'- TTCTCAAGAGGCGACATCAGAG -3'

Sequencing Primer
(F):5'- TGGCAAGAACTCTGCCACCAG -3'
(R):5'- AAATGATGGCATGTAAGTGCTGTCC -3'

Posted On

2020-01-23