Incidental Mutation 'IGL02628:Hsd17b7'
ID301163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b7
Ensembl Gene ENSMUSG00000026675
Gene Namehydroxysteroid (17-beta) dehydrogenase 7
SynonymsERG27
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02628
Quality Score
Status
Chromosome1
Chromosomal Location169949535-169969241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 169964489 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 117 (F117L)
Ref Sequence ENSEMBL: ENSMUSP00000027989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027989] [ENSMUST00000111353]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027989
AA Change: F117L

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: F117L

DomainStartEndE-ValueType
Pfam:adh_short 3 104 2.2e-16 PFAM
Pfam:KR 4 102 2.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111353
AA Change: F117L

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: F117L

DomainStartEndE-ValueType
Pfam:KR 3 103 2.3e-8 PFAM
Pfam:adh_short 3 236 5.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193930
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality, abnormal brain development, abnormal branchial arches, pericardial effusion, and abnormal cardiovascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 T A 12: 70,954,656 probably null Het
Ankhd1 T C 18: 36,647,703 V1936A probably benign Het
Ap3m1 C A 14: 21,045,520 E81* probably null Het
Camkk1 T C 11: 73,029,169 probably benign Het
Cbwd1 T A 19: 24,957,905 E78D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cmc1 A G 9: 118,065,308 Y33H probably damaging Het
Cntnap5b A T 1: 100,072,069 D184V probably damaging Het
F5 A T 1: 164,194,075 D1373V probably damaging Het
Fam169a T C 13: 97,111,288 probably benign Het
Fem1c G A 18: 46,505,952 R328W probably damaging Het
Gba2 T C 4: 43,568,919 R579G probably benign Het
Gm42641 G A 9: 109,058,630 Q98* probably null Het
Itsn1 A G 16: 91,899,623 D38G possibly damaging Het
Map1a T C 2: 121,300,104 I467T probably damaging Het
Map2k4 T A 11: 65,690,741 I382F possibly damaging Het
Myh1 T G 11: 67,206,262 probably benign Het
Nr1h4 C T 10: 89,473,839 A339T probably damaging Het
Olfr190 A C 16: 59,074,792 M96R probably benign Het
Olfr429 A G 1: 174,089,190 Y50C probably benign Het
Opn4 T A 14: 34,593,057 T420S probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc17a3 T A 13: 23,842,451 M1K probably null Het
T T A 17: 8,435,358 I125N probably damaging Het
Tns2 T A 15: 102,111,828 S710T probably benign Het
Trav3-1 T A 14: 52,581,094 V75E probably benign Het
U2surp A G 9: 95,472,090 Y832H possibly damaging Het
Other mutations in Hsd17b7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Hsd17b7 APN 1 169965755 nonsense probably null
IGL01923:Hsd17b7 APN 1 169959466 missense probably benign
IGL02830:Hsd17b7 APN 1 169953080 missense probably damaging 0.98
IGL02886:Hsd17b7 APN 1 169953080 missense probably damaging 0.98
IGL03064:Hsd17b7 APN 1 169959718 missense probably benign 0.35
IGL03123:Hsd17b7 APN 1 169953080 missense probably damaging 0.98
IGL03139:Hsd17b7 APN 1 169953080 missense probably damaging 0.98
IGL03165:Hsd17b7 APN 1 169953080 missense probably damaging 0.98
IGL03270:Hsd17b7 APN 1 169953080 missense probably damaging 0.98
IGL03389:Hsd17b7 APN 1 169959751 missense probably damaging 1.00
IGL03098:Hsd17b7 UTSW 1 169953080 missense probably damaging 0.98
IGL03138:Hsd17b7 UTSW 1 169953080 missense probably damaging 0.98
R0299:Hsd17b7 UTSW 1 169959794 splice site probably benign
R0723:Hsd17b7 UTSW 1 169956026 missense probably damaging 1.00
R1301:Hsd17b7 UTSW 1 169961205 splice site probably benign
R1449:Hsd17b7 UTSW 1 169959682 splice site probably null
R1806:Hsd17b7 UTSW 1 169961129 missense possibly damaging 0.50
R1874:Hsd17b7 UTSW 1 169955993 missense possibly damaging 0.70
R2365:Hsd17b7 UTSW 1 169964440 missense probably damaging 1.00
R4824:Hsd17b7 UTSW 1 169961195 missense probably benign 0.10
R4859:Hsd17b7 UTSW 1 169967257 missense possibly damaging 0.82
R5644:Hsd17b7 UTSW 1 169955948 missense probably damaging 0.99
R5889:Hsd17b7 UTSW 1 169955918 missense probably benign 0.00
Posted On2015-04-16