Incidental Mutation 'R5788:Hsd17b4'
ID 448183
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 043382-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R5788 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 50261268-50329336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50306776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 494 (D494N)
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385]
AlphaFold P51660
Predicted Effect probably damaging
Transcript: ENSMUST00000025385
AA Change: D494N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: D494N

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 0.2929 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A G 7: 131,045,328 (GRCm39) Y420C probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Amfr T A 8: 94,726,942 (GRCm39) R90S probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp8a2 T A 14: 60,258,242 (GRCm39) D440V probably damaging Het
Bahcc1 A G 11: 120,177,178 (GRCm39) D2022G probably damaging Het
Bicd1 T C 6: 149,385,498 (GRCm39) F77S probably benign Het
Ccdc66 C T 14: 27,220,448 (GRCm39) R255H probably benign Het
Ckm A G 7: 19,153,372 (GRCm39) D152G probably benign Het
Cpsf7 T G 19: 10,518,082 (GRCm39) S431A possibly damaging Het
Csmd1 T C 8: 16,251,980 (GRCm39) T959A probably damaging Het
Dkk4 T C 8: 23,115,347 (GRCm39) C66R probably damaging Het
Espl1 T A 15: 102,232,465 (GRCm39) W2058R probably damaging Het
Evi5l A T 8: 4,256,800 (GRCm39) probably benign Het
Fancg A T 4: 43,007,130 (GRCm39) probably benign Het
Flg2 A T 3: 93,108,296 (GRCm39) H108L probably benign Het
Fzd2 A T 11: 102,496,293 (GRCm39) T246S probably benign Het
Gm10428 T G 11: 62,644,107 (GRCm39) probably benign Het
Gm1988 T A 7: 38,821,627 (GRCm39) noncoding transcript Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm7133 A T 1: 97,171,201 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,717,962 (GRCm39) N710S probably benign Het
Hcn2 T C 10: 79,552,945 (GRCm39) V148A possibly damaging Het
Hephl1 A G 9: 14,995,579 (GRCm39) L483S possibly damaging Het
Hinfp C T 9: 44,209,105 (GRCm39) E338K possibly damaging Het
Ipo4 C T 14: 55,866,277 (GRCm39) V801M probably benign Het
Kcns2 A C 15: 34,839,000 (GRCm39) Y121S probably benign Het
Kif1c T A 11: 70,599,654 (GRCm39) L462H probably damaging Het
Lrrk2 T G 15: 91,648,851 (GRCm39) V1615G possibly damaging Het
Naca G A 10: 127,876,011 (GRCm39) probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Ndufs2 A G 1: 171,066,954 (GRCm39) Y135H probably damaging Het
Nwd2 T C 5: 63,965,114 (GRCm39) V1566A probably benign Het
Or52d13 C T 7: 103,110,086 (GRCm39) V110I possibly damaging Het
Or52n4b T C 7: 108,144,551 (GRCm39) I271T probably damaging Het
Or5t17 A G 2: 86,832,645 (GRCm39) T111A probably benign Het
Or6c75 A G 10: 129,336,779 (GRCm39) M1V probably null Het
Or6c75 A T 10: 129,336,763 (GRCm39) L3F probably benign Het
Pcid2 C T 8: 13,150,320 (GRCm39) probably null Het
Pld4 A C 12: 112,730,551 (GRCm39) I145L probably benign Het
Pogk A T 1: 166,236,580 (GRCm39) probably benign Het
Rhbg C T 3: 88,152,874 (GRCm39) V280I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rxfp3 A G 15: 11,036,250 (GRCm39) F374S possibly damaging Het
Son A G 16: 91,456,940 (GRCm39) probably benign Het
Specc1l G T 10: 75,112,755 (GRCm39) R994L probably damaging Het
Tas2r135 T A 6: 42,382,531 (GRCm39) D23E probably damaging Het
Teddm2 A T 1: 153,726,810 (GRCm39) H21Q probably benign Het
Tet1 T C 10: 62,675,737 (GRCm39) T780A possibly damaging Het
Thbs1 T A 2: 117,952,989 (GRCm39) D866E probably damaging Het
Tmed4 A G 11: 6,221,743 (GRCm39) W198R probably damaging Het
Ttn A T 2: 76,749,575 (GRCm39) C3825S probably benign Het
Uchl1 T A 5: 66,833,754 (GRCm39) probably benign Het
Wsb2 A G 5: 117,515,483 (GRCm39) T363A possibly damaging Het
Zfp266 A G 9: 20,417,332 (GRCm39) Y19H probably damaging Het
Zkscan17 A G 11: 59,378,086 (GRCm39) C366R probably 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
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
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'- CTCTGTGACCTGAGAATGGTTC -3'
(R):5'- TGACCCTCCTCCGAGAACTTAC -3'

Sequencing Primer
(F):5'- GACCTGAGAATGGTTCTGATAATG -3'
(R):5'- CTTACTCTACAAATCAAAGCCTGGTG -3'
Posted On 2016-12-15