Incidental Mutation 'R6899:Hsd17b14'
ID 541017
Institutional Source Beutler Lab
Gene Symbol Hsd17b14
Ensembl Gene ENSMUSG00000030825
Gene Name hydroxysteroid (17-beta) dehydrogenase 14
Synonyms 0610039E24Rik, retSDR3, Dhrs10
MMRRC Submission 044993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6899 (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 T at 45212352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 128 (H128L)
Ref Sequence ENSEMBL: ENSMUSP00000103381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107752] [ENSMUST00000210300]
AlphaFold E9Q3D4
Predicted Effect possibly damaging
Transcript: ENSMUST00000107752
AA Change: H128L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: H128L

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 possibly damaging
Transcript: ENSMUST00000210300
AA Change: H128L

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210997
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.9%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,264 (GRCm39) Y1140C probably damaging Het
Actl9 G A 17: 33,652,533 (GRCm39) G198S probably damaging Het
Adcy2 A T 13: 69,130,500 (GRCm39) M129K probably damaging Het
Apmap T A 2: 150,436,228 (GRCm39) I107F probably benign Het
Arrdc3 T C 13: 81,037,330 (GRCm39) I162T probably damaging Het
Asprv1 T C 6: 86,605,742 (GRCm39) L196P probably damaging Het
Atpsckmt A G 15: 31,617,257 (GRCm39) S163G probably benign Het
Bag2 A G 1: 33,785,912 (GRCm39) S137P possibly damaging Het
Borcs5 T A 6: 134,687,173 (GRCm39) M177K probably benign Het
C8b A T 4: 104,644,071 (GRCm39) K246M probably benign Het
Cdo1 A G 18: 46,856,407 (GRCm39) C76R probably damaging Het
Ces2b T A 8: 105,563,398 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,902 (GRCm39) S194N probably benign Het
Dap3 A G 3: 88,840,907 (GRCm39) F77L probably benign Het
Dars1 A G 1: 128,341,483 (GRCm39) V44A possibly damaging Het
Dhtkd1 T A 2: 5,922,776 (GRCm39) D461V possibly damaging Het
Ero1a A C 14: 45,530,396 (GRCm39) H345Q probably benign Het
Fzd8 T A 18: 9,214,729 (GRCm39) S604T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gramd1c T A 16: 43,860,505 (GRCm39) Y64F probably benign Het
Heatr5b T A 17: 79,110,938 (GRCm39) Y970F probably benign Het
Hoxc10 A G 15: 102,875,942 (GRCm39) E217G possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifna9 A G 4: 88,510,300 (GRCm39) F108S probably damaging Het
Ikbke A G 1: 131,203,499 (GRCm39) V58A probably damaging Het
Inpp5e G A 2: 26,290,060 (GRCm39) R462C possibly damaging Het
Junb A G 8: 85,704,353 (GRCm39) F236L probably benign Het
Klhl36 T C 8: 120,596,881 (GRCm39) V194A probably benign Het
Lsg1 A T 16: 30,400,906 (GRCm39) D134E probably benign Het
Megf8 G T 7: 25,060,138 (GRCm39) C2343F probably damaging Het
Mtres1 T C 10: 43,408,780 (GRCm39) E121G possibly damaging Het
Myom3 G A 4: 135,530,603 (GRCm39) G1172R probably damaging Het
Nasp A T 4: 116,461,530 (GRCm39) V548E probably damaging Het
Nubpl T A 12: 52,357,536 (GRCm39) S317T probably benign Het
Nup210l A G 3: 90,075,204 (GRCm39) D838G possibly damaging Het
Oxsr1 C T 9: 119,076,188 (GRCm39) A373T probably benign Het
Psat1 C T 19: 15,895,569 (GRCm39) probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Slain1 C T 14: 103,888,215 (GRCm39) P45L possibly damaging Het
Slc16a8 A G 15: 79,137,949 (GRCm39) V20A possibly damaging Het
Slc22a13 A T 9: 119,025,473 (GRCm39) M145K probably damaging Het
Slc22a4 G A 11: 53,879,739 (GRCm39) T440I probably damaging Het
Slc39a12 C T 2: 14,394,352 (GRCm39) P74L probably damaging Het
Sod3 A G 5: 52,526,050 (GRCm39) T250A unknown Het
Syne2 A G 12: 76,142,503 (GRCm39) probably null Het
Tctn1 A G 5: 122,387,019 (GRCm39) Y299H probably damaging Het
Tfcp2l1 A G 1: 118,603,305 (GRCm39) M448V probably benign Het
Tfpi C T 2: 84,275,153 (GRCm39) G152S probably damaging Het
Thap4 A G 1: 93,678,691 (GRCm39) S32P probably damaging Het
Tmem132c T A 5: 127,628,744 (GRCm39) W549R probably damaging Het
Vmn2r29 T C 7: 7,244,641 (GRCm39) E411G probably damaging Het
Washc4 C A 10: 83,411,919 (GRCm39) D683E probably benign Het
Wdr3 A T 3: 100,057,217 (GRCm39) V462D possibly damaging Het
Wdr5b T C 16: 35,862,150 (GRCm39) S90P probably damaging Het
Zfp407 A G 18: 84,579,559 (GRCm39) L518P possibly damaging Het
Zfp53 A G 17: 21,728,707 (GRCm39) I247V possibly damaging 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
R7541:Hsd17b14 UTSW 7 45,215,570 (GRCm39) missense probably damaging 1.00
R7829:Hsd17b14 UTSW 7 45,216,209 (GRCm39) missense probably benign 0.11
R7927:Hsd17b14 UTSW 7 45,215,395 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTAGCTTGATGAGGACTGG -3'
(R):5'- ACATCAACTGCAGGGTTACC -3'

Sequencing Primer
(F):5'- CCTAGCTTGATGAGGACTGGAGATG -3'
(R):5'- GGGTTACCTTTCCCCTCAGAG -3'
Posted On 2018-11-28