Mutagenetix > Incidental Mutation

Incidental Mutation 'R8258:Adhfe1'

640054

Institutional Source

Beutler Lab

Gene Symbol

Adhfe1

Ensembl Gene

ENSMUSG00000025911

Gene Name

alcohol dehydrogenase, iron containing, 1

Synonyms

6330565B14Rik

MMRRC Submission

067684-MU

Accession Numbers

Essential gene?

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

Stock #

R8258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9618173-9648195 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9628417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 263 (N263S)

Ref Sequence

ENSEMBL: ENSMUSP00000116627 (fasta)

Gene Model

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

AlphaFold

Q8R0N6

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

probably benign
Transcript: ENSMUST00000130927

Predicted Effect

probably null
Transcript: ENSMUST00000144177
AA Change: N263S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: N263S

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
AA Change: N254S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.1544

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Cimap2	C	T	4: 106,448,859 (GRCm39)	G400S	probably damaging	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	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
R8024:Adhfe1	UTSW	1	9,634,080 (GRCm39)	missense	probably benign	0.05
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'- CACCCACTAGTACAAGCATATTTTGTC -3'
(R):5'- AGCGTCCCTTTCGGCATTAG -3'

Sequencing Primer
(F):5'- GGATGAAGTCCAAGCTGCTCATC -3'
(R):5'- GCATTAGGTACGTCAGGTTTCACC -3'

Posted On

2020-07-28