Incidental Mutation 'R7829:Hsd17b14'
ID 602326
Institutional Source Beutler Lab
Gene Symbol Hsd17b14
Ensembl Gene ENSMUSG00000030825
Gene Name hydroxysteroid (17-beta) dehydrogenase 14
Synonyms 0610039E24Rik, retSDR3, Dhrs10
MMRRC Submission 045883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R7829 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45204345-45216745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45216209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 260 (S260R)
Ref Sequence ENSEMBL: ENSMUSP00000103381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000107752] [ENSMUST00000120864] [ENSMUST00000209204] [ENSMUST00000210300]
AlphaFold E9Q3D4
Predicted Effect probably benign
Transcript: ENSMUST00000033098
SMART Domains Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826

DomainStartEndE-ValueType
Pfam:Aminotran_4 101 351 5.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107752
AA Change: S260R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: S260R

DomainStartEndE-ValueType
Pfam:KR 10 187 4.3e-12 PFAM
Pfam:adh_short 10 200 2.9e-53 PFAM
Pfam:Epimerase 12 184 4.2e-7 PFAM
Pfam:adh_short_C2 16 250 8.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120864
SMART Domains Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826

DomainStartEndE-ValueType
Pfam:Aminotran_4 119 370 7.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209204
Predicted Effect probably benign
Transcript: ENSMUST00000210300
Predicted Effect probably benign
Transcript: ENSMUST00000210997
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (61/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
PHENOTYPE: In a high-throughput phenotyping screen, male null mice exhibit infertility, decreased sperm production, testicular degeneration and an increased anxiety-like response to stress-induced hyperthermia. Homozygous null mice also show an increase in serum IgG2a in response to antigen challenge. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C G 11: 58,770,823 (GRCm39) L102V not run Het
Abca12 A T 1: 71,331,580 (GRCm39) S1323R probably benign Het
Abcb1a T A 5: 8,748,623 (GRCm39) I318N probably benign Het
Adam10 A T 9: 70,674,209 (GRCm39) K524* probably null Het
Adamts3 C T 5: 90,009,349 (GRCm39) G105R probably damaging Het
Adcy7 T C 8: 89,042,387 (GRCm39) I418T probably damaging Het
Alg9 T A 9: 50,699,471 (GRCm39) F165L probably damaging Het
Anapc2 G T 2: 25,167,753 (GRCm39) R440L probably damaging Het
Arhgef17 A T 7: 100,526,052 (GRCm39) H1876Q probably benign Het
Armc2 G A 10: 41,802,856 (GRCm39) R606C probably benign Het
Cd163 T C 6: 124,281,738 (GRCm39) S14P probably benign Het
Cfap74 T C 4: 155,513,694 (GRCm39) V502A Het
Copb2 T C 9: 98,470,147 (GRCm39) I891T probably damaging Het
Creb3 T C 4: 43,566,322 (GRCm39) L276P probably damaging Het
Crnkl1 T A 2: 145,773,269 (GRCm39) M126L probably benign Het
Csrp2 C T 10: 110,771,045 (GRCm39) A50V probably damaging Het
Ctsd A G 7: 141,930,879 (GRCm39) C284R probably damaging Het
Dll3 G A 7: 27,994,075 (GRCm39) A454V probably damaging Het
Dmbx1 C T 4: 115,781,104 (GRCm39) probably benign Het
Dnah6 C A 6: 73,104,902 (GRCm39) E1896* probably null Het
Dtwd1 A G 2: 126,006,679 (GRCm39) T234A probably damaging Het
Fhod3 G A 18: 25,248,947 (GRCm39) probably null Het
Gm10549 C A 18: 33,597,463 (GRCm39) probably benign Het
Gm7298 T C 6: 121,742,297 (GRCm39) I495T probably damaging Het
Grhl3 T C 4: 135,288,532 (GRCm39) N51S probably damaging Het
Gtpbp4 A T 13: 9,035,366 (GRCm39) probably null Het
Insig2 A T 1: 121,235,058 (GRCm39) probably null Het
Itgae T A 11: 73,029,618 (GRCm39) V1046D probably benign Het
Kif1b A T 4: 149,305,447 (GRCm39) probably null Het
Kmo A G 1: 175,478,225 (GRCm39) probably null Het
Loxhd1 A G 18: 77,496,483 (GRCm39) N29S probably damaging Het
Lrp1b A T 2: 40,793,460 (GRCm39) C2484* probably null Het
Lrrc23 T A 6: 124,747,711 (GRCm39) M293L probably benign Het
Mphosph6 T C 8: 118,525,807 (GRCm39) D47G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naglu G A 11: 100,967,436 (GRCm39) R462H probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrc5 T C 8: 95,248,397 (GRCm39) S1711P probably damaging Het
Or10al7 T C 17: 38,366,220 (GRCm39) Y79C possibly damaging Het
Or1o2 T C 17: 37,543,201 (GRCm39) E20G probably benign Het
Or6k2 A T 1: 173,986,425 (GRCm39) I29F probably benign Het
Osbpl6 G A 2: 76,423,731 (GRCm39) A857T probably damaging Het
Oscp1 C A 4: 125,982,201 (GRCm39) D380E probably benign Het
Pdzd7 C A 19: 45,027,678 (GRCm39) R265S probably benign Het
Piezo2 A T 18: 63,246,947 (GRCm39) probably null Het
Pigc G A 1: 161,798,033 (GRCm39) R5H probably benign Het
Pla2g5 C A 4: 138,531,845 (GRCm39) R53L probably benign Het
Rbm6 T C 9: 107,729,905 (GRCm39) R248G probably damaging Het
Rev1 A T 1: 38,095,526 (GRCm39) L877Q probably damaging Het
Rpap3 A T 15: 97,579,589 (GRCm39) N474K probably benign Het
Ryr2 T A 13: 11,842,493 (GRCm39) E468V possibly damaging Het
Samd9l A C 6: 3,374,749 (GRCm39) D837E probably benign Het
Sipa1l2 T C 8: 126,178,727 (GRCm39) N1124S probably damaging Het
Slc11a2 G A 15: 100,307,142 (GRCm39) A83V possibly damaging Het
Slfn14 A G 11: 83,172,643 (GRCm39) probably null Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Suclg1 A G 6: 73,252,226 (GRCm39) probably null Het
Syne1 A C 10: 5,292,293 (GRCm39) V1325G probably damaging Het
Tmprss15 T C 16: 78,784,538 (GRCm39) S706G probably benign Het
Tox2 T C 2: 163,162,296 (GRCm39) Y389H probably damaging Het
Trappc10 T C 10: 78,034,909 (GRCm39) T946A probably benign Het
Ubqln1 C T 13: 58,325,719 (GRCm39) E546K probably damaging Het
Zfp106 A G 2: 120,354,538 (GRCm39) V1411A possibly damaging Het
Zkscan5 A T 5: 145,155,513 (GRCm39) K395* probably null Het
Other mutations in Hsd17b14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Hsd17b14 APN 7 45,216,137 (GRCm39) missense possibly damaging 0.72
IGL02504:Hsd17b14 APN 7 45,205,799 (GRCm39) missense possibly damaging 0.84
IGL03126:Hsd17b14 APN 7 45,205,503 (GRCm39) missense possibly damaging 0.83
IGL03279:Hsd17b14 APN 7 45,215,617 (GRCm39) missense possibly damaging 0.72
IGL03493:Hsd17b14 APN 7 45,205,515 (GRCm39) missense probably damaging 1.00
BB004:Hsd17b14 UTSW 7 45,215,395 (GRCm39) missense probably damaging 0.99
BB014:Hsd17b14 UTSW 7 45,215,395 (GRCm39) missense probably damaging 0.99
R0085:Hsd17b14 UTSW 7 45,205,834 (GRCm39) unclassified probably benign
R4128:Hsd17b14 UTSW 7 45,212,432 (GRCm39) missense probably damaging 1.00
R4513:Hsd17b14 UTSW 7 45,212,339 (GRCm39) missense probably benign 0.24
R5903:Hsd17b14 UTSW 7 45,215,386 (GRCm39) missense probably damaging 1.00
R6649:Hsd17b14 UTSW 7 45,205,500 (GRCm39) missense probably damaging 1.00
R6899:Hsd17b14 UTSW 7 45,212,352 (GRCm39) missense possibly damaging 0.90
R7541:Hsd17b14 UTSW 7 45,215,570 (GRCm39) missense probably damaging 1.00
R7927:Hsd17b14 UTSW 7 45,215,395 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGGACTGCTCCTAATTCTCTC -3'
(R):5'- GCAGCTAGCTTATCCTGAGTTTC -3'

Sequencing Primer
(F):5'- CTGAAGCCACCTTCTGTA -3'
(R):5'- GAGAGCCCCTGCCTAGAATC -3'
Posted On 2019-12-03