Incidental Mutation 'R4128:Hsd17b14'
ID 315473
Institutional Source Beutler Lab
Gene Symbol Hsd17b14
Ensembl Gene ENSMUSG00000030825
Gene Name hydroxysteroid (17-beta) dehydrogenase 14
Synonyms 0610039E24Rik, retSDR3, Dhrs10
MMRRC Submission 041635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4128 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45204345-45216745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45212432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 155 (V155M)
Ref Sequence ENSEMBL: ENSMUSP00000147715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107752] [ENSMUST00000210300]
AlphaFold E9Q3D4
Predicted Effect probably damaging
Transcript: ENSMUST00000107752
AA Change: V155M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: V155M

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 noncoding transcript
Transcript: ENSMUST00000115479
AA Change: V121M
Predicted Effect probably damaging
Transcript: ENSMUST00000133242
AA Change: V155M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121017
Gene: ENSMUSG00000030825
AA Change: V155M

DomainStartEndE-ValueType
Pfam:adh_short 10 163 9.9e-29 PFAM
Pfam:KR 10 177 2e-13 PFAM
Pfam:Epimerase 12 161 2.3e-8 PFAM
Pfam:3Beta_HSD 13 152 5.1e-7 PFAM
Pfam:adh_short_C2 16 159 4.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141247
AA Change: R156H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147958
AA Change: V65M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209566
Predicted Effect probably damaging
Transcript: ENSMUST00000210300
AA Change: V155M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211029
Predicted Effect probably benign
Transcript: ENSMUST00000210997
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C T 3: 95,588,982 (GRCm39) R483Q probably benign Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Cavin2 A G 1: 51,340,581 (GRCm39) *419W probably null Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Csl T C 10: 99,594,462 (GRCm39) D201G probably benign Het
Erap1 T C 13: 74,814,315 (GRCm39) I33T probably damaging Het
Ermap T C 4: 119,044,308 (GRCm39) T163A possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Igf2bp2 C T 16: 21,897,371 (GRCm39) V281I probably benign Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Ireb2 T A 9: 54,788,716 (GRCm39) D63E probably benign Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Kcnj11 A G 7: 45,749,143 (GRCm39) F60S probably damaging Het
Lyplal1 A G 1: 185,821,736 (GRCm39) C129R possibly damaging Het
Mertk C T 2: 128,619,358 (GRCm39) Q539* probably null Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Narf G A 11: 121,141,261 (GRCm39) probably null Het
Neb C A 2: 52,182,712 (GRCm39) L1051F probably damaging Het
Nid1 T C 13: 13,650,957 (GRCm39) V498A probably damaging Het
Or10ab5 T C 7: 108,245,633 (GRCm39) N50S probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Rab39 T A 9: 53,597,804 (GRCm39) I154L probably benign Het
Rnf187 A T 11: 58,824,883 (GRCm39) S220T probably benign Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Stxbp3 T C 3: 108,702,147 (GRCm39) Q553R probably benign Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Unc13c C A 9: 73,641,819 (GRCm39) A1225S probably damaging Het
Zranb1 C A 7: 132,568,281 (GRCm39) S313* 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
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
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'- CACAGTCCCACACTTGAGGATG -3'
(R):5'- GCCCTAAACAGTGGGATCTAGC -3'

Sequencing Primer
(F):5'- CCCACACTTGAGGATGTTGGTG -3'
(R):5'- GAGTAGAAACGAACTCTCAACTTG -3'
Posted On 2015-05-14