Incidental Mutation 'IGL03126:Hsd17b14'
ID410161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b14
Ensembl Gene ENSMUSG00000030825
Gene Namehydroxysteroid (17-beta) dehydrogenase 14
Synonyms0610039E24Rik, Dhrs10, retSDR3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03126
Quality Score
Status
Chromosome7
Chromosomal Location45554893-45567752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45556079 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 38 (F38S)
Ref Sequence ENSEMBL: ENSMUSP00000147715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000107752] [ENSMUST00000209517] [ENSMUST00000210300] [ENSMUST00000211155] [ENSMUST00000211797]
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: F38S

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: F38S

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: F38S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210460
Predicted Effect probably benign
Transcript: ENSMUST00000210797
Predicted Effect unknown
Transcript: ENSMUST00000210997
AA Change: F12S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211106
Predicted Effect probably benign
Transcript: ENSMUST00000211155
Predicted Effect probably benign
Transcript: ENSMUST00000211348
Predicted Effect probably benign
Transcript: ENSMUST00000211797
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,481,027 N562S probably benign Het
4930402H24Rik A T 2: 130,791,995 probably null Het
Abi1 A G 2: 22,953,467 V316A probably benign Het
Acsm1 A T 7: 119,633,180 Q100L possibly damaging Het
Akr1c21 T C 13: 4,577,458 Y184H possibly damaging Het
Anks3 T C 16: 4,958,027 T104A probably damaging Het
Bcl2l2 A G 14: 54,884,767 Y129C probably damaging Het
Cenpf T A 1: 189,659,010 K875I probably damaging Het
Cntnap1 T C 11: 101,176,301 V15A probably benign Het
Elmo3 C A 8: 105,306,381 R66S probably damaging Het
Epn1 C A 7: 5,095,685 A370E probably benign Het
Esrrg T C 1: 187,997,987 probably benign Het
Fam129b C T 2: 32,876,386 R13W possibly damaging Het
Fgd5 T G 6: 92,065,164 L1034R probably damaging Het
Fpgs A G 2: 32,683,123 V567A possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Hist1h3c T C 13: 23,745,442 K19R possibly damaging Het
Ikbkap A G 4: 56,779,717 S565P probably benign Het
Larp1 T C 11: 58,050,877 V712A possibly damaging Het
Mep1b T C 18: 21,088,560 F189S probably damaging Het
Mill1 T C 7: 18,255,907 V38A probably benign Het
Npy4r T C 14: 34,146,333 I333V probably benign Het
Numa1 G T 7: 102,000,667 E1202* probably null Het
Olfr231 A G 1: 174,117,710 I102T probably benign Het
Olfr401 C T 11: 74,121,784 A165V probably benign Het
Oxr1 A T 15: 41,820,249 Q356L possibly damaging Het
Prdx2 T C 8: 84,971,569 F130L probably damaging Het
Rasa1 A T 13: 85,256,396 S248R possibly damaging Het
Rgs19 A G 2: 181,691,321 S49P probably benign Het
Rinl A G 7: 28,795,650 probably benign Het
Serpinb11 T C 1: 107,379,924 F362L probably damaging Het
Slamf8 T C 1: 172,584,169 H253R possibly damaging Het
Tet3 C A 6: 83,376,787 R829L probably damaging Het
Trappc8 A G 18: 20,863,595 L420P probably damaging Het
Ube2u A T 4: 100,550,002 *353Y probably null Het
Wbp1l A C 19: 46,644,399 D46A probably damaging Het
Zbtb21 A G 16: 97,951,745 V474A probably damaging Het
Other mutations in Hsd17b14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Hsd17b14 APN 7 45566713 missense possibly damaging 0.72
IGL02504:Hsd17b14 APN 7 45556375 missense possibly damaging 0.84
IGL03279:Hsd17b14 APN 7 45566193 missense possibly damaging 0.72
IGL03493:Hsd17b14 APN 7 45556091 missense probably damaging 1.00
R0085:Hsd17b14 UTSW 7 45556410 unclassified probably benign
R4128:Hsd17b14 UTSW 7 45563008 missense probably damaging 1.00
R4513:Hsd17b14 UTSW 7 45562915 missense probably benign 0.24
R5903:Hsd17b14 UTSW 7 45565962 missense probably damaging 1.00
R6649:Hsd17b14 UTSW 7 45556076 missense probably damaging 1.00
R6899:Hsd17b14 UTSW 7 45562928 missense possibly damaging 0.90
R7541:Hsd17b14 UTSW 7 45566146 missense probably damaging 1.00
Posted On2016-08-02