Incidental Mutation 'IGL01986:Hsd17b4'
ID 181934
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 # IGL01986
Quality Score
Status
Chromosome 18
Chromosomal Location 50261268-50329336 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 50293193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385]
AlphaFold P51660
Predicted Effect probably benign
Transcript: ENSMUST00000025385
SMART Domains Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,282,956 (GRCm39) I245F possibly damaging Het
Abca3 G A 17: 24,627,088 (GRCm39) G1263D probably damaging Het
Arap2 A T 5: 62,779,265 (GRCm39) S1442T probably damaging Het
Arl15 C A 13: 114,058,902 (GRCm39) S56R possibly damaging Het
Ccdc38 A T 10: 93,415,705 (GRCm39) N415Y probably damaging Het
Ccny G A 18: 9,377,817 (GRCm39) R81C probably damaging Het
Cracd T A 5: 77,006,457 (GRCm39) S939R unknown Het
Csmd3 T C 15: 47,522,591 (GRCm39) T2693A possibly damaging Het
Fancm C T 12: 65,173,429 (GRCm39) Q1914* probably null Het
Fcsk T C 8: 111,609,889 (GRCm39) T1042A probably benign Het
Gm18856 G A 13: 14,139,413 (GRCm39) probably benign Het
Gramd1a A T 7: 30,833,434 (GRCm39) L610Q possibly damaging Het
Hspa12a A G 19: 58,787,834 (GRCm39) S663P probably benign Het
Insr C T 8: 3,208,817 (GRCm39) V1215I probably damaging Het
Kdr A G 5: 76,113,519 (GRCm39) V783A probably benign Het
Klhl9 T C 4: 88,640,016 (GRCm39) D75G probably damaging Het
Lmntd1 A G 6: 145,365,533 (GRCm39) S53P probably damaging Het
Lrrc41 T A 4: 115,946,519 (GRCm39) F411L probably benign Het
Lyst G A 13: 13,950,212 (GRCm39) probably null Het
Mmp17 A G 5: 129,673,692 (GRCm39) H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 (GRCm38) R154Q probably damaging Het
Or10ag2 A G 2: 87,248,880 (GRCm39) I163V probably benign Het
Or2b4 A G 17: 38,116,957 (GRCm39) K307R probably damaging Het
Or4p21 C T 2: 88,276,839 (GRCm39) V148I probably benign Het
Or8s16 T C 15: 98,210,660 (GRCm39) Y257C probably damaging Het
Pcsk6 G A 7: 65,577,625 (GRCm39) R60H probably damaging Het
Polk T C 13: 96,620,331 (GRCm39) D623G probably benign Het
Rlf A T 4: 121,005,303 (GRCm39) C1226S probably damaging Het
Rpa2 C T 4: 132,499,191 (GRCm39) P87S probably benign Het
Rpa2 C T 4: 132,499,192 (GRCm39) P87L probably benign Het
Sema5a T C 15: 32,682,506 (GRCm39) probably benign Het
Sis A T 3: 72,852,545 (GRCm39) M529K probably damaging Het
Sspo T C 6: 48,460,237 (GRCm39) M3375T probably benign Het
Syne3 A T 12: 104,934,259 (GRCm39) L83Q probably damaging Het
Tec A T 5: 72,939,348 (GRCm39) Y222* probably null Het
Tfap2d C T 1: 19,189,383 (GRCm39) probably benign Het
Trak1 G A 9: 121,302,033 (GRCm39) A930T probably benign Het
Ugt2b34 G T 5: 87,049,111 (GRCm39) H305N probably benign Het
Vmn2r95 A G 17: 18,660,473 (GRCm39) N295S probably benign 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
IGL02126:Hsd17b4 APN 18 50,315,063 (GRCm39) missense probably benign
IGL02496:Hsd17b4 APN 18 50,288,220 (GRCm39) missense probably damaging 0.97
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 2014-05-07