Incidental Mutation 'R1752:Hsd17b4'
ID 193671
Institutional Source Beutler Lab
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
MMRRC Submission 039784-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R1752 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 50261268-50329336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50303834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 436 (S436P)
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385]
AlphaFold P51660
Predicted Effect probably benign
Transcript: ENSMUST00000025385
AA Change: S436P

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: S436P

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Accsl C T 2: 93,688,375 (GRCm39) G420S probably damaging Het
Adam29 A G 8: 56,325,309 (GRCm39) S382P probably damaging Het
Apob T C 12: 8,038,766 (GRCm39) L393P probably benign Het
Arhgef19 T G 4: 140,978,354 (GRCm39) S616A probably benign Het
Atp11a C T 8: 12,863,094 (GRCm39) T91I probably damaging Het
Ccdc88b C T 19: 6,830,690 (GRCm39) V751I probably benign Het
Ccni T C 5: 93,350,315 (GRCm39) probably benign Het
Cd2 G A 3: 101,183,511 (GRCm39) A266V probably benign Het
Cd33 T C 7: 43,181,722 (GRCm39) D146G probably benign Het
Cdh16 A G 8: 105,346,505 (GRCm39) probably null Het
Chd1 T C 17: 15,963,494 (GRCm39) probably null Het
Chd5 A T 4: 152,459,590 (GRCm39) I1109F probably damaging Het
Cir1 T C 2: 73,140,882 (GRCm39) E29G probably damaging Het
Clec5a T C 6: 40,559,187 (GRCm39) T66A probably damaging Het
Cpa2 A G 6: 30,552,023 (GRCm39) D250G probably damaging Het
Crybg2 T A 4: 133,800,961 (GRCm39) L707H probably damaging Het
Csmd3 T C 15: 47,523,669 (GRCm39) T2646A probably benign Het
Cul7 G A 17: 46,964,093 (GRCm39) R390Q probably benign Het
Cyp2c69 T A 19: 39,869,597 (GRCm39) I141F probably damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Dclk2 C T 3: 86,713,434 (GRCm39) V470I possibly damaging Het
Dixdc1 A G 9: 50,593,850 (GRCm39) V530A probably benign Het
Dock7 A G 4: 98,854,681 (GRCm39) F1528L probably damaging Het
Edn1 T A 13: 42,457,075 (GRCm39) V36E possibly damaging Het
Eng T C 2: 32,563,404 (GRCm39) V319A probably benign Het
Epb41l2 A G 10: 25,336,690 (GRCm39) K229E probably damaging Het
Fam184a T C 10: 53,550,666 (GRCm39) N698S probably benign Het
Fndc7 T C 3: 108,776,646 (GRCm39) N465S probably benign Het
Fstl4 T C 11: 53,077,622 (GRCm39) V793A probably benign Het
Gm9797 A T 10: 11,485,287 (GRCm39) noncoding transcript Het
Itsn2 T G 12: 4,761,950 (GRCm39) probably null Het
Kank3 T C 17: 34,038,791 (GRCm39) V570A probably damaging Het
Kif13a A T 13: 46,951,885 (GRCm39) F733Y probably damaging Het
Kif16b G T 2: 142,532,586 (GRCm39) D1184E probably benign Het
Kif20a A G 18: 34,764,634 (GRCm39) D727G possibly damaging Het
Kif20b T A 19: 34,915,736 (GRCm39) S504R probably benign Het
Lrrc37 T C 11: 103,505,381 (GRCm39) T2196A possibly damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Luzp2 T C 7: 54,914,088 (GRCm39) S306P possibly damaging Het
Macf1 T C 4: 123,377,465 (GRCm39) I1490V possibly damaging Het
Manba T A 3: 135,212,706 (GRCm39) W72R probably damaging Het
Mast1 A G 8: 85,651,965 (GRCm39) V339A probably benign Het
Mnx1 A G 5: 29,682,727 (GRCm39) S183P unknown Het
Muc5b T G 7: 141,421,488 (GRCm39) L4326R possibly damaging Het
Myb T C 10: 21,032,336 (GRCm39) D15G possibly damaging Het
Ncapg2 A T 12: 116,390,338 (GRCm39) D429V probably damaging Het
Neurod6 A G 6: 55,656,511 (GRCm39) V42A probably benign Het
Nfxl1 A T 5: 72,698,218 (GRCm39) C276S probably damaging Het
Nptx2 C A 5: 144,492,171 (GRCm39) T316N probably damaging Het
Nrp2 T A 1: 62,777,600 (GRCm39) F135Y probably damaging Het
Nxpe3 A T 16: 55,686,837 (GRCm39) F57Y probably benign Het
Or4c109 C A 2: 88,817,659 (GRCm39) A296S possibly damaging Het
Or51ag1 T A 7: 103,155,765 (GRCm39) R129S probably benign Het
Osbpl11 T C 16: 33,025,205 (GRCm39) Y144H probably damaging Het
Pax5 T C 4: 44,609,729 (GRCm39) Y233C probably damaging Het
Pck1 A G 2: 172,998,906 (GRCm39) N388S probably benign Het
Plcd3 T A 11: 102,971,085 (GRCm39) Q157L probably benign Het
Pnma2 A C 14: 67,153,785 (GRCm39) M70L probably benign Het
Pogk T C 1: 166,235,997 (GRCm39) K35E probably damaging Het
Ptprb T A 10: 116,176,895 (GRCm39) V1227E probably benign Het
Pygm T A 19: 6,441,064 (GRCm39) V450E probably damaging Het
Rb1 T A 14: 73,525,064 (GRCm39) I190F probably damaging Het
Setd2 T A 9: 110,423,673 (GRCm39) Y2243N probably damaging Het
Slc11a2 A T 15: 100,303,687 (GRCm39) L182Q probably damaging Het
Slc45a3 T C 1: 131,905,259 (GRCm39) L94P probably damaging Het
Slc9a4 T C 1: 40,668,421 (GRCm39) F688S probably benign Het
Slit3 A T 11: 35,455,480 (GRCm39) I196F probably damaging Het
Sprn G A 7: 139,733,408 (GRCm39) probably benign Het
Spsb2 A G 6: 124,787,292 (GRCm39) D242G probably benign Het
Srpk2 A G 5: 23,733,017 (GRCm39) I111T probably damaging Het
St8sia4 T A 1: 95,519,537 (GRCm39) Y317F probably benign Het
Stat5a T A 11: 100,774,884 (GRCm39) *798K probably null Het
Sult1c2 C T 17: 54,271,777 (GRCm39) V137M possibly damaging Het
Synj1 T C 16: 90,735,361 (GRCm39) T1531A probably benign Het
Tasor T A 14: 27,193,885 (GRCm39) Y1028* probably null Het
Tax1bp1 A G 6: 52,698,398 (GRCm39) T37A probably damaging Het
Tet1 T A 10: 62,648,768 (GRCm39) D1888V probably damaging Het
Tln1 T C 4: 43,536,311 (GRCm39) T1994A probably damaging Het
Tmco3 A C 8: 13,341,741 (GRCm39) D5A probably benign Het
Tnk1 T A 11: 69,747,532 (GRCm39) N74I possibly damaging Het
Ttc16 A T 2: 32,662,162 (GRCm39) S120T probably damaging Het
Ttn T A 2: 76,774,448 (GRCm39) T2153S probably damaging Het
Ttn A G 2: 76,594,606 (GRCm39) V20480A probably damaging Het
Usp4 T C 9: 108,251,441 (GRCm39) Y539H probably damaging Het
Zar1 A C 5: 72,734,715 (GRCm39) V168G probably damaging Het
Zcchc9 T C 13: 91,953,899 (GRCm39) K119E possibly damaging Het
Zfp251 T C 15: 76,737,863 (GRCm39) N410S possibly damaging Het
Zfp605 A T 5: 110,271,639 (GRCm39) D10V probably damaging Het
Zyg11a A T 4: 108,062,479 (GRCm39) N107K 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAATTAGACCTTCTAAGAGGAGGCAC -3'
(R):5'- GGGCCTAAGCAGTTTCACCTACTTAC -3'

Sequencing Primer
(F):5'- CCTTCTAAGAGGAGGCACTATATAAG -3'
(R):5'- AAGCAGTTTCACCTACTTACTGTCC -3'
Posted On 2014-05-23