Incidental Mutation 'R0095:Adhfe1'
ID17376
Institutional Source Beutler Lab
Gene Symbol Adhfe1
Ensembl Gene ENSMUSG00000025911
Gene Namealcohol dehydrogenase, iron containing, 1
Synonyms6330565B14Rik
MMRRC Submission 038381-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R0095 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location9547948-9580673 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9560177 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 317 (I317T)
Ref Sequence ENSEMBL: ENSMUSP00000116627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000144177] [ENSMUST00000186467]
Predicted Effect probably benign
Transcript: ENSMUST00000027044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115480
Predicted Effect possibly damaging
Transcript: ENSMUST00000144177
AA Change: I317T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: I317T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000186467
Predicted Effect unknown
Transcript: ENSMUST00000190654
AA Change: I308T
Meta Mutation Damage Score 0.242 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.1%
  • 10x: 74.3%
  • 20x: 56.3%
Validation Efficiency 88% (50/57)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a2 C T 11: 61,250,948 G21D probably damaging Het
Alms1 C A 6: 85,620,253 T1156N possibly damaging Het
Anxa8 G A 14: 34,086,071 A6T probably benign Het
Arhgef4 C T 1: 34,732,370 Q86* probably null Het
Atp4a T A 7: 30,720,735 I769N probably damaging Het
Cacnb2 G T 2: 14,958,775 V61F probably damaging Het
Clcf1 T G 19: 4,215,788 probably benign Het
Cmah G T 13: 24,436,685 A301S probably benign Het
Col6a4 A G 9: 106,075,356 W448R probably benign Het
Csmd1 A T 8: 16,233,051 D630E probably damaging Het
Dock10 A T 1: 80,524,071 Y1434N probably benign Het
Etl4 A G 2: 20,743,868 D137G probably damaging Het
Fer A T 17: 63,941,326 E361V possibly damaging Het
Foxp2 C A 6: 15,196,977 A6E probably damaging Het
Gpr3 T A 4: 133,211,286 D25V probably benign Het
Gstm7 A T 3: 107,930,563 probably benign Het
Gys1 T C 7: 45,444,649 V332A possibly damaging Het
Igsf10 A T 3: 59,331,196 Y521* probably null Het
Itk T C 11: 46,342,452 D266G probably damaging Het
Kdm1a C T 4: 136,550,894 R839H probably benign Het
Lypla1 T C 1: 4,830,327 probably benign Het
Mmp1a G A 9: 7,465,620 G186D possibly damaging Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Necab1 T A 4: 14,960,027 N307Y possibly damaging Het
Olfr510 A C 7: 108,668,045 I210L probably benign Het
Plekha5 T C 6: 140,528,597 F84L probably damaging Het
Plxnb2 A G 15: 89,165,331 S562P probably benign Het
Rfx8 C T 1: 39,685,536 V222M possibly damaging Het
Rpap3 A G 15: 97,680,536 probably benign Het
Rpl6 T G 5: 121,205,839 V115G possibly damaging Het
Sec16a A T 2: 26,425,760 probably null Het
Sema3d T C 5: 12,563,347 Y464H probably damaging Het
Sgo2a T A 1: 58,015,555 N299K probably benign Het
Tecrl T C 5: 83,294,570 probably benign Het
Thsd7a T C 6: 12,320,970 T1569A probably damaging Het
U2surp T C 9: 95,500,684 probably null Het
Unc45a T C 7: 80,329,543 D567G probably damaging Het
Zfp532 A G 18: 65,624,784 Y596C probably damaging Het
Other mutations in Adhfe1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On2013-01-20