Incidental Mutation 'BB004:Hsd17b14'
ID 642274
Institutional Source Beutler Lab
Gene Symbol Hsd17b14
Ensembl Gene ENSMUSG00000030825
Gene Name hydroxysteroid (17-beta) dehydrogenase 14
Synonyms 0610039E24Rik, retSDR3, Dhrs10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # BB004
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45204345-45216745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45215395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 164 (M164T)
Ref Sequence ENSEMBL: ENSMUSP00000103381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000107752] [ENSMUST00000120864] [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 damaging
Transcript: ENSMUST00000107752
AA Change: M164T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: M164T

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: ENSMUST00000210300
Predicted Effect probably benign
Transcript: ENSMUST00000210997
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,123,539 (GRCm39) M111T probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agrn C T 4: 156,257,266 (GRCm39) G1188D probably damaging Het
Amz2 A G 11: 109,319,884 (GRCm39) K90R probably damaging Het
Arhgef4 G T 1: 34,846,334 (GRCm39) Q227H probably damaging Het
B4galt3 T A 1: 171,099,342 (GRCm39) C10* probably null Het
Banf2 T A 2: 143,915,718 (GRCm39) M53K probably benign Het
BC034090 A T 1: 155,117,371 (GRCm39) L249* probably null Het
Cftr A G 6: 18,267,970 (GRCm39) D673G possibly damaging Het
Cntnap2 G T 6: 47,072,621 (GRCm39) C1063F possibly damaging Het
Cstpp1 T A 2: 91,252,250 (GRCm39) D37V probably damaging Het
Dnah3 A G 7: 119,550,494 (GRCm39) I296T probably damaging Het
Dpy19l2 A G 9: 24,607,197 (GRCm39) V88A probably benign Het
Fbln5 T C 12: 101,784,647 (GRCm39) probably benign Het
Fbn1 T C 2: 125,225,656 (GRCm39) D532G possibly damaging Het
Fnta G A 8: 26,494,454 (GRCm39) R258* probably null Het
Gch1 G A 14: 47,393,380 (GRCm39) H201Y probably damaging Het
Grik2 A T 10: 49,116,890 (GRCm39) S624T probably damaging Het
Grm5 T A 7: 87,685,382 (GRCm39) S500T probably benign Het
Hmcn1 T A 1: 150,485,526 (GRCm39) I4359F probably damaging Het
Hrc T A 7: 44,985,477 (GRCm39) H209Q possibly damaging Het
Hydin T C 8: 111,307,476 (GRCm39) F3952L possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc4 A G 16: 32,592,011 (GRCm39) T958A Het
Myo19 A G 11: 84,791,046 (GRCm39) E419G probably damaging Het
Ndufa5 A G 6: 24,527,291 (GRCm39) V16A possibly damaging Het
Or10a2 T C 7: 106,673,496 (GRCm39) F154L probably benign Het
Phf24 A C 4: 42,934,774 (GRCm39) T137P probably damaging Het
Pkp4 A T 2: 59,142,098 (GRCm39) N467I probably damaging Het
Pramel25 T A 4: 143,519,536 (GRCm39) I99N probably benign Het
Rbm12b2 C T 4: 12,095,417 (GRCm39) R759C possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf34 T A 5: 122,988,288 (GRCm39) probably benign Het
Scaf8 T A 17: 3,209,495 (GRCm39) S73T unknown Het
Scn4a T A 11: 106,233,209 (GRCm39) E454D probably damaging Het
Serpina1e A G 12: 103,917,450 (GRCm39) V73A probably benign Het
Sh3rf2 A G 18: 42,244,487 (GRCm39) T350A probably benign Het
Slc35a1 A G 4: 34,669,021 (GRCm39) V264A probably damaging Het
Slf2 A G 19: 44,923,740 (GRCm39) K185E probably damaging Het
Spmip8 T A 8: 96,039,786 (GRCm39) S68T probably benign Het
Spsb2 T C 6: 124,786,336 (GRCm39) F23S probably benign Het
Ssx2ip T G 3: 146,138,365 (GRCm39) L404R probably damaging Het
Strn4 T A 7: 16,560,556 (GRCm39) L236Q probably null Het
Tcp10b A G 17: 13,288,579 (GRCm39) T202A probably benign Het
Tdp1 G T 12: 99,878,555 (GRCm39) V448L probably damaging Het
Tecrl T C 5: 83,502,666 (GRCm39) E61G probably damaging Het
Trim50 T C 5: 135,382,465 (GRCm39) F106L probably benign Het
Usp5 G T 6: 124,801,192 (GRCm39) F224L probably benign Het
Vmn2r114 G C 17: 23,510,619 (GRCm39) N620K probably damaging Het
Vmn2r45 C A 7: 8,486,513 (GRCm39) M258I probably benign Het
Zfp574 T A 7: 24,779,572 (GRCm39) V198E probably benign Het
Zmym4 A G 4: 126,799,170 (GRCm39) I722T probably benign 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
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
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'- TGTAGTCTTGAATTCTGGCAATCG -3'
(R):5'- TTGAGGCTGCAAGCTCTTCC -3'

Sequencing Primer
(F):5'- TCTGGCAATCGGTAACAAACTG -3'
(R):5'- CCACAGTGGAGTCCAGATGTTTC -3'
Posted On 2020-08-01