Incidental Mutation 'R2197:Hsd17b4'
ID 238467
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 040199-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R2197 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 50261268-50329336 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 50316369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385] [ENSMUST00000025385]
AlphaFold P51660
Predicted Effect probably null
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
Predicted Effect probably null
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A T 11: 102,660,750 (GRCm39) I94F possibly damaging Het
Ankrd50 A T 3: 38,509,741 (GRCm39) D875E probably damaging Het
Arf3 T C 15: 98,639,285 (GRCm39) N60S probably benign Het
Atxn2 T G 5: 121,944,280 (GRCm39) probably null Het
B3gnt8 A T 7: 25,328,373 (GRCm39) I268F probably benign Het
Bmp1 T A 14: 70,723,712 (GRCm39) D708V possibly damaging Het
C1s2 A G 6: 124,609,069 (GRCm39) S163P probably damaging Het
C3 A G 17: 57,526,623 (GRCm39) I786T probably benign Het
Cacna2d2 T A 9: 107,404,602 (GRCm39) L1138Q probably damaging Het
Cage1 T A 13: 38,207,029 (GRCm39) Y272F probably damaging Het
Cd300ld A T 11: 114,875,058 (GRCm39) M192K possibly damaging Het
Cdc5l A T 17: 45,718,745 (GRCm39) F624I probably benign Het
Cdh8 T A 8: 99,922,897 (GRCm39) Q333L probably damaging Het
Ciapin1 T A 8: 95,555,787 (GRCm39) K128* probably null Het
Col6a3 T A 1: 90,731,467 (GRCm39) E988D probably benign Het
Crip3 A G 17: 46,740,338 (GRCm39) E46G probably damaging Het
D5Ertd579e A G 5: 36,772,137 (GRCm39) S753P possibly damaging Het
Dock6 T A 9: 21,744,177 (GRCm39) D126V probably damaging Het
Duxf4 T A 10: 58,072,158 (GRCm39) I19F possibly damaging Het
Dvl3 A G 16: 20,342,506 (GRCm39) E153G probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Exoc8 A G 8: 125,622,477 (GRCm39) L630P probably damaging Het
Fam227a G A 15: 79,507,668 (GRCm39) T454M probably damaging Het
Flnc A T 6: 29,459,134 (GRCm39) D2472V probably damaging Het
Galnt4 G A 10: 98,944,509 (GRCm39) G78E probably damaging Het
Ghr A T 15: 3,362,956 (GRCm39) L172* probably null Het
Gjb5 A T 4: 127,250,063 (GRCm39) probably null Het
Hdac5 T C 11: 102,095,340 (GRCm39) D427G probably damaging Het
Kcnab1 T C 3: 65,017,368 (GRCm39) I59T probably benign Het
Kcnh7 A G 2: 62,607,950 (GRCm39) Y544H probably damaging Het
Kdm7a A G 6: 39,123,870 (GRCm39) S765P probably damaging Het
Lama1 A T 17: 68,059,936 (GRCm39) H675L probably benign Het
Lemd3 CCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCCTCC 10: 120,814,432 (GRCm39) probably benign Het
Llgl1 T C 11: 60,600,865 (GRCm39) S654P possibly damaging Het
Lvrn G T 18: 47,011,409 (GRCm39) M455I probably benign Het
Mfsd12 T A 10: 81,193,568 (GRCm39) L46Q probably damaging Het
Mtcl1 A T 17: 66,673,427 (GRCm39) M783K probably benign Het
Mthfd1l A T 10: 3,978,399 (GRCm39) T420S probably damaging Het
Mybphl T A 3: 108,284,635 (GRCm39) I294N probably damaging Het
Or4c52 G A 2: 89,845,768 (GRCm39) G165S probably damaging Het
Or4f14b T C 2: 111,775,658 (GRCm39) T48A possibly damaging Het
Or52ab7 T A 7: 102,977,831 (GRCm39) L46* probably null Het
Oxa1l A T 14: 54,598,924 (GRCm39) Q70L probably benign Het
Pcdhac2 A T 18: 37,279,185 (GRCm39) I722F probably damaging Het
Pde4d A G 13: 110,084,924 (GRCm39) D460G probably damaging Het
Pth1r CGGG CGGGGGG 9: 110,556,058 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,152 (GRCm39) S334P probably benign Het
Ror2 C T 13: 53,439,816 (GRCm39) probably null Het
Scnn1g G C 7: 121,366,519 (GRCm39) W572S probably damaging Het
Skint5 G A 4: 113,798,046 (GRCm39) S179L probably damaging Het
Slc22a2 G T 17: 12,817,949 (GRCm39) G175V probably damaging Het
Spaca6 G A 17: 18,056,416 (GRCm39) probably null Het
Tbc1d30 C T 10: 121,140,312 (GRCm39) R207H probably damaging Het
Tdrd5 A G 1: 156,087,435 (GRCm39) I829T probably benign Het
Tmcc3 T C 10: 94,414,780 (GRCm39) S161P probably damaging Het
Tmem150b A G 7: 4,719,353 (GRCm39) V189A probably benign Het
Tmem248 A G 5: 130,260,597 (GRCm39) D54G probably benign Het
Trmt1 T A 8: 85,417,487 (GRCm39) S121T probably damaging Het
Tyk2 C T 9: 21,026,503 (GRCm39) V698M probably damaging Het
Usp17la A G 7: 104,509,919 (GRCm39) R175G probably damaging Het
Vav1 A G 17: 57,610,140 (GRCm39) N464S probably benign Het
Vmn2r57 T G 7: 41,078,249 (GRCm39) probably null Het
Vmn2r78 A G 7: 86,570,535 (GRCm39) Y351C 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
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'- CACTTCTGGGGCATATTTCGC -3'
(R):5'- CGCCAGCACATTACTTACATGG -3'

Sequencing Primer
(F):5'- CTGGGGCATATTTCGCTAATAAG -3'
(R):5'- CATTACTTACATGGAATGTAGGCAGG -3'
Posted On 2014-10-02