Incidental Mutation 'IGL02496:Hsd17b4'
ID 295838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b4
Ensembl Gene ENSMUSG00000024507
Gene Name hydroxysteroid (17-beta) dehydrogenase 4
Synonyms 17[b]-HSD, Mfp-2, multifunctional protein 2, D-bifunctional protein, perMFE-2, MFP2, MFE-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # IGL02496
Quality Score
Status
Chromosome 18
Chromosomal Location 50261268-50329336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50288220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 217 (Y217H)
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385]
AlphaFold P51660
Predicted Effect probably damaging
Transcript: ENSMUST00000025385
AA Change: Y217H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: Y217H

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
Coding Region Coverage
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Hsd17b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Hsd17b4 APN 18 50,297,912 (GRCm39) missense probably benign
IGL01369:Hsd17b4 APN 18 50,305,100 (GRCm39) missense possibly damaging 0.95
IGL01411:Hsd17b4 APN 18 50,324,881 (GRCm39) missense probably damaging 1.00
IGL01986:Hsd17b4 APN 18 50,293,193 (GRCm39) splice site probably benign
IGL02126:Hsd17b4 APN 18 50,315,063 (GRCm39) missense probably benign
IGL02527:Hsd17b4 APN 18 50,293,231 (GRCm39) missense probably benign 0.00
IGL02553:Hsd17b4 APN 18 50,295,164 (GRCm39) splice site probably benign
IGL02813:Hsd17b4 APN 18 50,261,415 (GRCm39) utr 5 prime probably benign
inauspicious UTSW 18 50,279,491 (GRCm39) missense probably damaging 1.00
I0000:Hsd17b4 UTSW 18 50,293,295 (GRCm39) missense probably benign 0.09
IGL02980:Hsd17b4 UTSW 18 50,279,585 (GRCm39) missense probably benign 0.06
R0352:Hsd17b4 UTSW 18 50,324,851 (GRCm39) missense probably benign
R0734:Hsd17b4 UTSW 18 50,303,844 (GRCm39) missense possibly damaging 0.90
R0967:Hsd17b4 UTSW 18 50,316,328 (GRCm39) missense probably benign 0.00
R1418:Hsd17b4 UTSW 18 50,263,254 (GRCm39) splice site probably benign
R1661:Hsd17b4 UTSW 18 50,293,282 (GRCm39) missense probably benign
R1665:Hsd17b4 UTSW 18 50,293,282 (GRCm39) missense probably benign
R1752:Hsd17b4 UTSW 18 50,303,834 (GRCm39) missense probably benign 0.27
R1804:Hsd17b4 UTSW 18 50,311,051 (GRCm39) missense probably damaging 1.00
R2197:Hsd17b4 UTSW 18 50,316,369 (GRCm39) splice site probably null
R4351:Hsd17b4 UTSW 18 50,275,701 (GRCm39) missense probably damaging 1.00
R4405:Hsd17b4 UTSW 18 50,261,381 (GRCm39) start gained probably benign
R4976:Hsd17b4 UTSW 18 50,293,202 (GRCm39) missense probably damaging 1.00
R5788:Hsd17b4 UTSW 18 50,306,776 (GRCm39) missense probably damaging 0.99
R5826:Hsd17b4 UTSW 18 50,316,239 (GRCm39) missense probably benign 0.00
R5889:Hsd17b4 UTSW 18 50,310,276 (GRCm39) missense probably damaging 1.00
R6475:Hsd17b4 UTSW 18 50,305,329 (GRCm39) splice site probably null
R6632:Hsd17b4 UTSW 18 50,312,169 (GRCm39) missense possibly damaging 0.70
R7151:Hsd17b4 UTSW 18 50,261,437 (GRCm39) missense probably damaging 1.00
R7367:Hsd17b4 UTSW 18 50,288,252 (GRCm39) missense probably damaging 1.00
R7383:Hsd17b4 UTSW 18 50,297,917 (GRCm39) missense probably benign 0.13
R7397:Hsd17b4 UTSW 18 50,279,491 (GRCm39) missense probably damaging 1.00
R7509:Hsd17b4 UTSW 18 50,297,749 (GRCm39) missense probably damaging 1.00
R7697:Hsd17b4 UTSW 18 50,263,208 (GRCm39) missense probably damaging 1.00
R7722:Hsd17b4 UTSW 18 50,279,591 (GRCm39) missense probably damaging 1.00
R7764:Hsd17b4 UTSW 18 50,279,482 (GRCm39) nonsense probably null
R8065:Hsd17b4 UTSW 18 50,303,819 (GRCm39) missense possibly damaging 0.90
R8264:Hsd17b4 UTSW 18 50,279,593 (GRCm39) missense possibly damaging 0.79
R8350:Hsd17b4 UTSW 18 50,297,734 (GRCm39) missense probably benign 0.00
R8450:Hsd17b4 UTSW 18 50,297,734 (GRCm39) missense probably benign 0.00
R9345:Hsd17b4 UTSW 18 50,299,981 (GRCm39) missense probably benign 0.04
R9654:Hsd17b4 UTSW 18 50,272,533 (GRCm39) missense probably benign 0.01
R9705:Hsd17b4 UTSW 18 50,324,791 (GRCm39) missense probably benign 0.41
R9790:Hsd17b4 UTSW 18 50,324,907 (GRCm39) critical splice donor site probably null
R9791:Hsd17b4 UTSW 18 50,324,907 (GRCm39) critical splice donor site probably null
Z1177:Hsd17b4 UTSW 18 50,315,047 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16