Incidental Mutation 'IGL01923:Hsd17b7'
ID 180165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b7
Ensembl Gene ENSMUSG00000026675
Gene Name hydroxysteroid (17-beta) dehydrogenase 7
Synonyms ERG27
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01923
Quality Score
Status
Chromosome 1
Chromosomal Location 169949535-169969241 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 169959466 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 254 (V254A)
Ref Sequence ENSEMBL: ENSMUSP00000106985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027989] [ENSMUST00000111353]
AlphaFold O88736
Predicted Effect probably benign
Transcript: ENSMUST00000027989
AA Change: V254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: V254A

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: V254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: V254A

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,178,079 S597T possibly damaging Het
Btnl9 T C 11: 49,180,582 D138G probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep135 T A 5: 76,640,982 *1141K probably null Het
Ctnnd2 A T 15: 30,480,828 Q74L probably damaging Het
Cyp2j13 A T 4: 96,062,057 W236R probably benign Het
Dixdc1 A T 9: 50,695,503 I271N possibly damaging Het
Dlec1 A G 9: 119,128,114 probably null Het
Dnah9 C A 11: 66,125,235 probably benign Het
Dopey1 A T 9: 86,522,867 Y275F probably damaging Het
Dysf T A 6: 84,210,829 *2105R probably null Het
Eif4a1 A T 11: 69,672,303 D25E possibly damaging Het
Fras1 T A 5: 96,735,280 I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm12253 G T 11: 58,434,901 probably null Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Kif21a T A 15: 90,956,430 D143V probably damaging Het
Lrrc9 T C 12: 72,510,412 V1417A possibly damaging Het
Macf1 C T 4: 123,380,444 A4926T possibly damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Myh7 A G 14: 54,985,459 probably null Het
Olfr808 T A 10: 129,768,104 F203I probably benign Het
Pbx2 A G 17: 34,594,050 D160G probably damaging Het
Pcdhb17 T C 18: 37,486,737 F527L probably benign Het
Ppm1b T C 17: 84,994,061 L123P probably damaging Het
Ppm1k T A 6: 57,522,828 K154N probably benign Het
Ppp2r1a T G 17: 20,965,469 *590G probably null Het
Raver1 A T 9: 21,079,240 L589Q probably damaging Het
Rrbp1 A G 2: 143,990,161 S29P probably damaging Het
Senp5 A G 16: 31,965,816 Y673H probably damaging Het
Serpina3j T A 12: 104,315,214 probably benign Het
Serpinc1 A G 1: 160,989,546 E70G probably damaging Het
Stag3 A G 5: 138,289,230 Q139R probably damaging Het
Sva T A 6: 42,042,170 H91Q probably benign Het
Tmem263 C T 10: 85,114,431 Q29* probably null Het
Tpp1 T C 7: 105,751,650 N57D probably benign Het
Vmn2r27 T A 6: 124,200,525 I507L probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr11 A T 7: 129,632,322 probably null Het
Zfp236 C T 18: 82,682,219 E42K probably damaging Het
Other mutations in Hsd17b7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Hsd17b7 APN 1 169965755 nonsense probably null
IGL02628:Hsd17b7 APN 1 169964489 missense possibly damaging 0.58
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
R8967:Hsd17b7 UTSW 1 169969116 nonsense probably null
R9263:Hsd17b7 UTSW 1 169967264 missense probably damaging 1.00
R9329:Hsd17b7 UTSW 1 169967306 missense probably damaging 0.98
Posted On 2014-05-07