Incidental Mutation 'R0347:Adhfe1'
ID 38419
Institutional Source Beutler Lab
Gene Symbol Adhfe1
Ensembl Gene ENSMUSG00000025911
Gene Name alcohol dehydrogenase, iron containing, 1
Synonyms 6330565B14Rik
MMRRC Submission 038554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R0347 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 9618173-9648195 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9623655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 102 (F102Y)
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 benign
Transcript: ENSMUST00000144177
AA Change: F102Y

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: F102Y

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000190654
AA Change: F93Y
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 100% (78/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,913,748 (GRCm39) E908G probably benign Het
Abcb5 T A 12: 118,928,986 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,915 (GRCm39) Y625C probably benign Het
Alox5 T C 6: 116,390,513 (GRCm39) E488G possibly damaging Het
Ankmy2 T C 12: 36,243,753 (GRCm39) C323R probably damaging Het
Ankrd28 A G 14: 31,423,979 (GRCm39) *1084R probably null Het
Apol10a A T 15: 77,372,891 (GRCm39) I176F probably damaging Het
Arhgap26 C T 18: 38,750,797 (GRCm39) T70I unknown Het
Arid2 A G 15: 96,268,833 (GRCm39) N982S probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camsap3 A G 8: 3,652,029 (GRCm39) D291G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdc20b G T 13: 113,196,361 (GRCm39) G162V probably damaging Het
Cep44 T G 8: 56,998,510 (GRCm39) E56A probably damaging Het
Cfap410 A T 10: 77,820,256 (GRCm39) I209F probably damaging Het
Cfap65 A G 1: 74,965,603 (GRCm39) L469P probably damaging Het
Cilp T A 9: 65,187,435 (GRCm39) C1177S probably benign Het
Ctnnbip1 C T 4: 149,630,211 (GRCm39) P7S probably damaging Het
Cyp11a1 T C 9: 57,923,543 (GRCm39) probably benign Het
Cyp3a11 C T 5: 145,802,735 (GRCm39) V253M possibly damaging Het
D630045J12Rik C A 6: 38,158,327 (GRCm39) V1117L probably damaging Het
Dnah7b T A 1: 46,280,104 (GRCm39) S2678T probably damaging Het
Dock1 T C 7: 134,365,596 (GRCm39) I428T probably damaging Het
Fam83f A G 15: 80,556,458 (GRCm39) D114G probably damaging Het
Flt3 T A 5: 147,294,802 (GRCm39) N423I probably damaging Het
Fnbp1l A T 3: 122,383,824 (GRCm39) F31L probably damaging Het
Glrx3 G A 7: 137,039,430 (GRCm39) E10K unknown Het
Gm12185 T C 11: 48,806,009 (GRCm39) E394G probably benign Het
Gpatch1 C T 7: 34,997,056 (GRCm39) V381M probably benign Het
Grm8 T C 6: 27,981,221 (GRCm39) S230G probably benign Het
Heyl A T 4: 123,127,733 (GRCm39) D25V probably benign Het
Junb G A 8: 85,705,107 (GRCm39) probably benign Het
Klhl29 C A 12: 5,134,354 (GRCm39) V747F probably damaging Het
Krt77 T C 15: 101,768,304 (GRCm39) H569R unknown Het
Ldhb T C 6: 142,439,859 (GRCm39) N227S probably benign Het
Megf6 A G 4: 154,339,092 (GRCm39) D543G possibly damaging Het
Mrps23 A T 11: 88,101,519 (GRCm39) Q136L probably benign Het
Myh2 C T 11: 67,076,130 (GRCm39) probably benign Het
Nadk2 T A 15: 9,084,287 (GRCm39) D133E probably benign Het
Neurod4 G A 10: 130,106,980 (GRCm39) T98I probably damaging Het
Nfatc2 G T 2: 168,378,210 (GRCm39) T465K probably damaging Het
Nipbl A G 15: 8,380,216 (GRCm39) S859P probably benign Het
Nipsnap3a T C 4: 52,997,155 (GRCm39) probably benign Het
Nlrp4c A G 7: 6,069,415 (GRCm39) K439E possibly damaging Het
Or10q3 A T 19: 11,847,797 (GRCm39) L261H probably damaging Het
Or1e32 C T 11: 73,705,137 (GRCm39) G257D probably damaging Het
Or2a20 T C 6: 43,194,296 (GRCm39) F150L probably benign Het
Pds5b T A 5: 150,659,892 (GRCm39) probably benign Het
Pira13 A T 7: 3,825,873 (GRCm39) V332E probably damaging Het
Plch1 A G 3: 63,660,737 (GRCm39) M282T probably damaging Het
Plch2 C A 4: 155,071,178 (GRCm39) R1067L possibly damaging Het
Polr1has T A 17: 37,276,207 (GRCm39) M114K probably damaging Het
Pou2f2 A C 7: 24,797,126 (GRCm39) F206V probably damaging Het
Prss50 A G 9: 110,691,418 (GRCm39) I49V probably damaging Het
Rexo5 T A 7: 119,423,119 (GRCm39) probably null Het
Rgl2 C T 17: 34,151,712 (GRCm39) T252I probably damaging Het
Rp1l1 A T 14: 64,268,253 (GRCm39) K1280* probably null Het
Rpl24 T A 16: 55,790,540 (GRCm39) probably null Het
Satb1 T A 17: 52,046,934 (GRCm39) K763* probably null Het
Scart2 T A 7: 139,877,767 (GRCm39) H800Q probably damaging Het
Sema6a T A 18: 47,424,196 (GRCm39) R237S probably damaging Het
Spg11 T C 2: 121,927,850 (GRCm39) T645A probably damaging Het
Srrt T A 5: 137,297,938 (GRCm39) probably benign Het
Tanc1 T C 2: 59,673,335 (GRCm39) V1480A probably benign Het
Tbc1d2 T C 4: 46,620,574 (GRCm39) D412G possibly damaging Het
Tecrl T C 5: 83,442,479 (GRCm39) E198G probably damaging Het
Tigd4 A G 3: 84,501,167 (GRCm39) D28G probably damaging Het
Trp53bp2 T G 1: 182,269,213 (GRCm39) L226V probably benign Het
Ttll13 T C 7: 79,910,253 (GRCm39) S799P possibly damaging Het
Vps13c A T 9: 67,817,515 (GRCm39) Q1062H possibly damaging Het
Wnt10a T G 1: 74,832,702 (GRCm39) H98Q probably damaging Het
Zbtb47 C T 9: 121,592,168 (GRCm39) P198S probably damaging Het
Zfp959 T A 17: 56,204,180 (GRCm39) Y69* probably null Het
Other mutations in Adhfe1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGTGCTGCTGTACTCAAGCCTAAC -3'
(R):5'- ACTGTCTGTCTGTGCAATGGTGAAG -3'

Sequencing Primer
(F):5'- GCTGTACTCAAGCCTAACTTATG -3'
(R):5'- CATACAGATTGGCGGCTTTACAG -3'
Posted On 2013-05-23