Incidental Mutation 'I0000:Hsd17b4'
ID7835
Institutional Source Beutler Lab
Gene Symbol Hsd17b4
Ensembl Gene ENSMUSG00000024507
Gene Namehydroxysteroid (17-beta) dehydrogenase 4
SynonymsD-bifunctional protein, MFP2, multifunctional protein 2, 17[b]-HSD, Mfp-2, perMFE-2, MFE-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #I0000 (G3) of strain 635
Quality Score
Status Validated
Chromosome18
Chromosomal Location50128201-50196269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50160228 bp
ZygosityHomozygous
Amino Acid Change Aspartic acid to Glycine at position 278 (D278G)
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385]
Predicted Effect probably benign
Transcript: ENSMUST00000025385
AA Change: D278G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: D278G

DomainStartEndE-ValueType
Pfam:KR 10 186 2.1e-17 PFAM
Pfam:adh_short 10 208 2.3e-39 PFAM
Pfam:MaoC_dehydrat_N 346 451 1.4e-8 PFAM
low complexity region 458 470 N/A INTRINSIC
Pfam:MaoC_dehydratas 479 600 1.8e-41 PFAM
Pfam:SCP2 627 730 8.4e-27 PFAM
Meta Mutation Damage Score 0.478 question?
Coding Region Coverage
  • 1x: 90.9%
  • 3x: 86.6%
Validation Efficiency 67% (62/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in fatty acid metabolism, retarded growth, abnormal bile salt composition, impaired coordination, demyelination and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,238,655 V1933A probably damaging Het
Acsm4 T A 7: 119,711,192 F467I probably damaging Het
Ankrd55 A T 13: 112,348,725 probably benign Het
Bfsp1 T C 2: 143,845,968 Y179C probably damaging Het
Ccdc61 A G 7: 18,903,549 I51T probably damaging Het
Ccdc81 A G 7: 89,898,051 L43P probably damaging Het
Ddias A G 7: 92,866,640 V15A possibly damaging Het
Dpp6 A T 5: 27,398,922 T62S probably benign Het
Ereg G A 5: 91,089,209 C129Y probably benign Het
Fras1 G A 5: 96,740,829 G2745S probably damaging Het
Gzf1 C T 2: 148,686,620 probably benign Het
Herc2 T A 7: 56,136,729 probably benign Het
Ifitm3 A G 7: 141,010,528 S40P possibly damaging Het
Klf5 C T 14: 99,303,475 T307M probably damaging Homo
Lnpep A T 17: 17,578,971 C141S probably damaging Homo
Mmp19 A T 10: 128,798,460 D362V probably benign Het
Olfr1245 T C 2: 89,575,153 Y191C probably damaging Het
Pnpla6 G A 8: 3,542,322 A1222T probably benign Het
Rbm26 C A 14: 105,153,567 R161L unknown Homo
Selenon G A 4: 134,542,701 probably benign Het
Sept11 A G 5: 93,165,259 T322A probably benign Het
Sh3bp4 T A 1: 89,137,796 D37E probably benign Het
Tango2 G A 16: 18,312,666 R80W possibly damaging Homo
Tjap1 C T 17: 46,259,029 C345Y probably damaging Homo
Wdr62 T C 7: 30,245,327 D455G probably benign Het
Zbtb48 A G 4: 152,019,858 I671T probably benign Het
Zfp318 T C 17: 46,399,559 L736P probably damaging Homo
Other mutations in Hsd17b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Hsd17b4 APN 18 50164845 missense probably benign
IGL01369:Hsd17b4 APN 18 50172033 missense possibly damaging 0.95
IGL01411:Hsd17b4 APN 18 50191814 missense probably damaging 1.00
IGL01986:Hsd17b4 APN 18 50160126 splice site probably benign
IGL02126:Hsd17b4 APN 18 50181996 missense probably benign
IGL02496:Hsd17b4 APN 18 50155153 missense probably damaging 0.97
IGL02527:Hsd17b4 APN 18 50160164 missense probably benign 0.00
IGL02553:Hsd17b4 APN 18 50162097 splice site probably benign
IGL02813:Hsd17b4 APN 18 50128348 utr 5 prime probably benign
IGL02980:Hsd17b4 UTSW 18 50146518 missense probably benign 0.06
R0352:Hsd17b4 UTSW 18 50191784 missense probably benign
R0734:Hsd17b4 UTSW 18 50170777 missense possibly damaging 0.90
R0967:Hsd17b4 UTSW 18 50183261 missense probably benign 0.00
R1418:Hsd17b4 UTSW 18 50130187 splice site probably benign
R1661:Hsd17b4 UTSW 18 50160215 missense probably benign
R1665:Hsd17b4 UTSW 18 50160215 missense probably benign
R1752:Hsd17b4 UTSW 18 50170767 missense probably benign 0.27
R1804:Hsd17b4 UTSW 18 50177984 missense probably damaging 1.00
R2197:Hsd17b4 UTSW 18 50183302 splice site probably null
R4351:Hsd17b4 UTSW 18 50142634 missense probably damaging 1.00
R4405:Hsd17b4 UTSW 18 50128314 start gained probably benign
R4976:Hsd17b4 UTSW 18 50160135 missense probably damaging 1.00
R5788:Hsd17b4 UTSW 18 50173709 missense probably damaging 0.99
R5826:Hsd17b4 UTSW 18 50183172 missense probably benign 0.00
R5889:Hsd17b4 UTSW 18 50177209 missense probably damaging 1.00
R6475:Hsd17b4 UTSW 18 50172262 intron probably null
R6632:Hsd17b4 UTSW 18 50179102 missense possibly damaging 0.70
R7151:Hsd17b4 UTSW 18 50128370 missense probably damaging 1.00
R7367:Hsd17b4 UTSW 18 50155185 missense probably damaging 1.00
R7383:Hsd17b4 UTSW 18 50164850 missense probably benign 0.13
R7397:Hsd17b4 UTSW 18 50146424 missense probably damaging 1.00
Posted On2012-11-05