Incidental Mutation 'R1661:Hsd17b4'
ID 186793
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 039697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R1661 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 50261268-50329336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50293282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 274 (E274K)
Ref Sequence ENSEMBL: ENSMUSP00000025385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025385]
AlphaFold P51660
Predicted Effect probably benign
Transcript: ENSMUST00000025385
AA Change: E274K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: E274K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,596,816 (GRCm39) G423E probably damaging Het
Acox3 A T 5: 35,760,371 (GRCm39) H429L probably damaging Het
Adamts9 G T 6: 92,857,604 (GRCm39) Q895K possibly damaging Het
Ajm1 T C 2: 25,469,167 (GRCm39) D248G possibly damaging Het
Amotl2 T A 9: 102,607,295 (GRCm39) I701N probably damaging Het
Angel2 T C 1: 190,669,664 (GRCm39) Y115H probably damaging Het
Appbp2 T C 11: 85,100,936 (GRCm39) probably null Het
Arhgap33 A C 7: 30,231,748 (GRCm39) C113W probably damaging Het
Asprv1 A G 6: 86,605,718 (GRCm39) N188S probably damaging Het
Atp8a2 T C 14: 60,097,635 (GRCm39) I798V possibly damaging Het
Caml C A 13: 55,779,784 (GRCm39) L286I probably benign Het
Ccdc125 A G 13: 100,830,081 (GRCm39) I284V probably benign Het
Cep89 A G 7: 35,117,105 (GRCm39) T236A possibly damaging Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Cog2 T C 8: 125,269,629 (GRCm39) F390L probably benign Het
Creg2 C T 1: 39,662,372 (GRCm39) W253* probably null Het
Cttnbp2 A T 6: 18,434,982 (GRCm39) I292K probably benign Het
Ddb1 A T 19: 10,606,444 (GRCm39) Y1114F probably benign Het
Dnah6 T C 6: 73,101,761 (GRCm39) E1921G probably benign Het
Dync1h1 T C 12: 110,622,791 (GRCm39) F3494L probably damaging Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Fam222b A G 11: 78,045,987 (GRCm39) Y388C probably damaging Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Fbxo32 A C 15: 58,054,865 (GRCm39) V156G probably damaging Het
Fem1b C T 9: 62,704,556 (GRCm39) V235I probably damaging Het
Fnip2 A G 3: 79,422,456 (GRCm39) F108S probably benign Het
Fras1 A T 5: 96,746,768 (GRCm39) S613C probably damaging Het
Garin1a G C 6: 29,285,937 (GRCm39) R132P probably damaging Het
Gm7276 C A 18: 77,273,266 (GRCm39) probably benign Het
Gnb4 A C 3: 32,644,188 (GRCm39) L152* probably null Het
Htr4 T C 18: 62,545,305 (GRCm39) I30T probably damaging Het
Ighmbp2 A G 19: 3,317,246 (GRCm39) L542P probably damaging Het
Ikzf2 T A 1: 69,577,973 (GRCm39) Y512F probably damaging Het
Itpr1 A G 6: 108,459,858 (GRCm39) N2051D probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klhl22 C A 16: 17,594,352 (GRCm39) D160E probably benign Het
Kpna6 T A 4: 129,551,264 (GRCm39) R80S probably benign Het
Lclat1 A G 17: 73,494,999 (GRCm39) E142G probably damaging Het
Lrig3 T C 10: 125,833,570 (GRCm39) Y349H probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1b T A 13: 99,568,437 (GRCm39) N1428I unknown Het
Map3k19 T A 1: 127,745,393 (GRCm39) T1354S possibly damaging Het
Med13l T A 5: 118,887,813 (GRCm39) W1696R probably damaging Het
Megf8 A G 7: 25,063,272 (GRCm39) T2543A probably damaging Het
Mfn1 T G 3: 32,588,471 (GRCm39) V66G probably benign Het
Muc15 C T 2: 110,564,243 (GRCm39) Q260* probably null Het
Nfkb1 T C 3: 135,300,718 (GRCm39) H616R probably damaging Het
Nnmt A G 9: 48,516,174 (GRCm39) S29P probably benign Het
Nrde2 A T 12: 100,116,119 (GRCm39) S122T probably benign Het
Or10a2 T C 7: 106,673,481 (GRCm39) S149P probably damaging Het
Or4g16 T C 2: 111,137,116 (GRCm39) C189R probably damaging Het
Or7g33 C T 9: 19,448,624 (GRCm39) V201I probably benign Het
Pced1b A G 15: 97,282,594 (GRCm39) H211R probably benign Het
Pcsk5 A T 19: 17,424,938 (GRCm39) S1622T probably damaging Het
Pde10a A G 17: 9,117,702 (GRCm39) D26G probably damaging Het
Phf11a A T 14: 59,518,237 (GRCm39) L170H probably damaging Het
Ppil6 A G 10: 41,390,176 (GRCm39) D307G probably benign Het
Ppp6r2 A G 15: 89,137,254 (GRCm39) D6G possibly damaging Het
Psmd12 A T 11: 107,382,732 (GRCm39) K212N probably damaging Het
Rc3h1 T A 1: 160,786,993 (GRCm39) V796E probably benign Het
Rgl1 T C 1: 152,409,326 (GRCm39) Y503C probably damaging Het
Ryr1 A T 7: 28,801,163 (GRCm39) I860N probably damaging Het
Saal1 A T 7: 46,342,224 (GRCm39) N406K possibly damaging Het
Sh3pxd2a A T 19: 47,266,759 (GRCm39) Y277N probably damaging Het
Slitrk1 A T 14: 109,149,359 (GRCm39) Y451N probably damaging Het
Smad1 T C 8: 80,098,658 (GRCm39) E52G probably damaging Het
Smarcd1 A T 15: 99,605,519 (GRCm39) probably null Het
Smc3 A G 19: 53,613,496 (GRCm39) D403G probably benign Het
Srd5a2 A T 17: 74,328,476 (GRCm39) W201R probably damaging Het
Syt2 C A 1: 134,675,358 (GRCm39) A403D probably damaging Het
Tasor2 C T 13: 3,623,860 (GRCm39) S2030N possibly damaging Het
Tax1bp1 T A 6: 52,713,897 (GRCm39) S225R probably benign Het
Thap3 C T 4: 152,070,161 (GRCm39) V78M probably damaging Het
Thoc5 A G 11: 4,869,792 (GRCm39) K446R probably benign Het
Timmdc1 A C 16: 38,331,079 (GRCm39) probably null Het
Tmem126b G T 7: 90,125,179 (GRCm39) A2E probably damaging Het
Trim9 T A 12: 70,301,887 (GRCm39) R584W probably damaging Het
Vmn1r25 A T 6: 57,955,446 (GRCm39) I281N probably damaging Het
Wdr59 A G 8: 112,205,994 (GRCm39) F553S probably damaging Het
Wnt5a T C 14: 28,240,300 (GRCm39) M150T probably benign Het
Zfp53 A G 17: 21,729,766 (GRCm39) T600A 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
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
Predicted Primers PCR Primer
(F):5'- GCTCTCAGTAGTTCCCGACAGAGTTAG -3'
(R):5'- ACCATGTGTCACCCTCACCATAGTAG -3'

Sequencing Primer
(F):5'- GCTAACGGGCCTTTTAGAGAC -3'
(R):5'- TCACCATAGTAGAAACAGATGGAAC -3'
Posted On 2014-05-09