Incidental Mutation 'IGL02504:Hsd17b14'
ID 296194
Institutional Source Australian Phenomics Network (link to record)
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: 0.067) question?
Stock # IGL02504
Quality Score
Status
Chromosome 7
Chromosomal Location 45204345-45216745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45205799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 64 (T64A)
Ref Sequence ENSEMBL: ENSMUSP00000147715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000107752] [ENSMUST00000209517] [ENSMUST00000210300] [ENSMUST00000211155] [ENSMUST00000211797]
AlphaFold E9Q3D4
Predicted Effect probably benign
Transcript: ENSMUST00000051810
SMART Domains Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
PH 55 155 8.18e-19 SMART
low complexity region 162 190 N/A INTRINSIC
low complexity region 228 260 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 321 334 N/A INTRINSIC
coiled coil region 376 419 N/A INTRINSIC
low complexity region 519 535 N/A INTRINSIC
low complexity region 608 628 N/A INTRINSIC
low complexity region 649 659 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107752
AA Change: T64A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: T64A

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: ENSMUST00000209517
Predicted Effect possibly damaging
Transcript: ENSMUST00000210300
AA Change: T64A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210460
Predicted Effect probably benign
Transcript: ENSMUST00000210797
Predicted Effect unknown
Transcript: ENSMUST00000210997
AA Change: T38A
Predicted Effect probably benign
Transcript: ENSMUST00000211155
Predicted Effect probably benign
Transcript: ENSMUST00000211797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211106
Predicted Effect probably benign
Transcript: ENSMUST00000211348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211029
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,411,232 (GRCm39) N142I probably benign Het
Asf1b A G 8: 84,682,458 (GRCm39) M1V probably null Het
Astn1 T C 1: 158,329,978 (GRCm39) C278R probably damaging Het
Ccdc162 A T 10: 41,428,384 (GRCm39) L692Q probably damaging Het
Cd207 T A 6: 83,654,788 (GRCm39) probably benign Het
Chd5 T A 4: 152,447,779 (GRCm39) N548K probably damaging Het
Col7a1 G A 9: 108,809,743 (GRCm39) G2659D unknown Het
Cpa6 A T 1: 10,559,144 (GRCm39) Y75N probably benign Het
Cspg4 G T 9: 56,793,056 (GRCm39) V264L probably benign Het
Cyp3a25 T A 5: 145,930,141 (GRCm39) I155L probably benign Het
Dock6 A G 9: 21,757,951 (GRCm39) I51T probably benign Het
Dse G T 10: 34,028,796 (GRCm39) Q765K probably benign Het
Fam219b A T 9: 57,445,351 (GRCm39) M87L probably benign Het
Fat3 G A 9: 15,871,094 (GRCm39) R3766C probably damaging Het
Fcnb A C 2: 27,966,606 (GRCm39) M309R probably damaging Het
Fnbp4 C A 2: 90,598,887 (GRCm39) N670K probably damaging Het
Fsip2 T A 2: 82,809,199 (GRCm39) N1839K possibly damaging Het
G6pc2 A G 2: 69,056,939 (GRCm39) H195R probably damaging Het
Gm14179 A T 11: 99,634,003 (GRCm39) Het
Grm5 A G 7: 87,779,980 (GRCm39) N1172S probably benign Het
Hspb7 G T 4: 141,149,131 (GRCm39) E12D probably benign Het
Kdm2a T C 19: 4,406,799 (GRCm39) N155D possibly damaging Het
Klhl24 A T 16: 19,934,693 (GRCm39) R389* probably null Het
Kmt2b A G 7: 30,285,968 (GRCm39) probably benign Het
Krt4 T A 15: 101,827,727 (GRCm39) I469F unknown Het
Mto1 A T 9: 78,368,209 (GRCm39) D451V probably damaging Het
Muc5b A T 7: 141,400,177 (GRCm39) D477V unknown Het
Pcsk5 A G 19: 17,455,236 (GRCm39) probably null Het
Ppil4 T A 10: 7,696,748 (GRCm39) Y420* probably null Het
Ppp2r5d A T 17: 47,011,019 (GRCm39) D27E probably benign Het
Prkd2 T C 7: 16,591,757 (GRCm39) L596P probably damaging Het
Prr30 T C 14: 101,436,056 (GRCm39) I169V probably benign Het
Rtl9 A T X: 141,885,287 (GRCm39) T900S probably benign Het
Sash1 A G 10: 8,605,676 (GRCm39) S905P probably benign Het
Scn2a G A 2: 65,514,228 (GRCm39) G304D probably benign Het
Scp2d1 T C 2: 144,665,877 (GRCm39) L72P probably damaging Het
Septin2 T A 1: 93,428,203 (GRCm39) H166Q probably benign Het
Sgcb A G 5: 73,801,718 (GRCm39) I49T probably damaging Het
Smyd4 T A 11: 75,281,507 (GRCm39) W327R probably damaging Het
Sptbn1 C T 11: 30,092,293 (GRCm39) E491K probably damaging Het
Tcaf1 A T 6: 42,656,213 (GRCm39) H254Q probably benign Het
Tll1 A C 8: 64,523,271 (GRCm39) D480E possibly damaging Het
Tlr3 G A 8: 45,850,944 (GRCm39) T127M probably damaging Het
Trio A T 15: 27,847,476 (GRCm39) C929* probably null Het
Ttn C T 2: 76,628,494 (GRCm39) W12809* probably null Het
Ugt2b35 T A 5: 87,149,400 (GRCm39) M217K possibly damaging Het
Unc13b T C 4: 43,263,031 (GRCm39) V4261A probably damaging Het
Uqcrc2 T C 7: 120,242,254 (GRCm39) I82T probably benign Het
Usp21 A G 1: 171,112,596 (GRCm39) I266T probably benign Het
Veph1 A T 3: 66,079,551 (GRCm39) H321Q probably damaging Het
Vmn1r29 A C 6: 58,284,655 (GRCm39) Y125S probably benign Het
Other mutations in Hsd17b14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Hsd17b14 APN 7 45,216,137 (GRCm39) missense possibly damaging 0.72
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
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
Posted On 2015-04-16