Incidental Mutation 'R2365:Hsd17b7'
ID 246277
Institutional Source Beutler Lab
Gene Symbol Hsd17b7
Ensembl Gene ENSMUSG00000026675
Gene Name hydroxysteroid (17-beta) dehydrogenase 7
Synonyms ERG27
MMRRC Submission 040346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2365 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 169777104-169796810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 169792009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 133 (D133G)
Ref Sequence ENSEMBL: ENSMUSP00000106985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027989] [ENSMUST00000111353]
AlphaFold O88736
Predicted Effect probably damaging
Transcript: ENSMUST00000027989
AA Change: D133G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: D133G

DomainStartEndE-ValueType
Pfam:adh_short 3 104 2.2e-16 PFAM
Pfam:KR 4 102 2.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111353
AA Change: D133G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: D133G

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
Meta Mutation Damage Score 0.9565 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 94% (34/36)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T A 16: 29,070,008 (GRCm39) K959N probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cdhr2 T G 13: 54,865,901 (GRCm39) S268R probably benign Het
Erc1 A G 6: 119,552,656 (GRCm39) L1094P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fat4 A G 3: 39,034,568 (GRCm39) H2740R probably benign Het
Galnt13 A G 2: 54,744,709 (GRCm39) Y136C possibly damaging Het
Gipc2 A G 3: 151,833,831 (GRCm39) I150T possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm21957 T C 7: 124,818,629 (GRCm39) noncoding transcript Het
Gm5591 T A 7: 38,218,825 (GRCm39) R683W probably damaging Het
Gm826 A G 2: 160,169,130 (GRCm39) S60P unknown Het
Kera A G 10: 97,444,805 (GRCm39) T55A probably benign Het
Mff T C 1: 82,713,192 (GRCm39) V129A possibly damaging Het
Myo7b A G 18: 32,147,384 (GRCm39) L53P probably damaging Het
Neo1 A G 9: 58,863,286 (GRCm39) V427A probably benign Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or52e19 A T 7: 102,959,380 (GRCm39) I151L probably benign Het
Pfkfb3 C T 2: 11,498,713 (GRCm39) probably null Het
Pom121l2 A G 13: 22,167,954 (GRCm39) T742A probably benign Het
Pon1 A G 6: 5,171,746 (GRCm39) S302P probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Sall3 G C 18: 81,015,007 (GRCm39) P974A probably benign Het
Slc1a2 T A 2: 102,578,798 (GRCm39) probably null Het
Slc22a6 A G 19: 8,596,761 (GRCm39) T180A probably benign Het
Slc40a1 T C 1: 45,963,873 (GRCm39) probably null Het
Slc6a5 T C 7: 49,596,284 (GRCm39) S585P possibly damaging Het
Tbpl1 A G 10: 22,581,785 (GRCm39) V164A possibly damaging Het
Tmem98 A T 11: 80,706,511 (GRCm39) I95F probably damaging Het
Ush2a C A 1: 188,111,188 (GRCm39) P571T possibly damaging Het
Vars1 A G 17: 35,234,428 (GRCm39) N1125D probably benign Het
Vps13d T C 4: 144,813,894 (GRCm39) probably benign Het
Zbtb18 A T 1: 177,275,723 (GRCm39) E361V probably benign Het
Zc3hav1 A G 6: 38,317,168 (GRCm39) F144S probably damaging Het
Other mutations in Hsd17b7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Hsd17b7 APN 1 169,793,324 (GRCm39) nonsense probably null
IGL01923:Hsd17b7 APN 1 169,787,035 (GRCm39) missense probably benign
IGL02628:Hsd17b7 APN 1 169,792,058 (GRCm39) missense possibly damaging 0.58
IGL02830:Hsd17b7 APN 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL02886:Hsd17b7 APN 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL03064:Hsd17b7 APN 1 169,787,287 (GRCm39) missense probably benign 0.35
IGL03123:Hsd17b7 APN 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL03139:Hsd17b7 APN 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL03165:Hsd17b7 APN 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL03270:Hsd17b7 APN 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL03389:Hsd17b7 APN 1 169,787,320 (GRCm39) missense probably damaging 1.00
IGL03098:Hsd17b7 UTSW 1 169,780,649 (GRCm39) missense probably damaging 0.98
IGL03138:Hsd17b7 UTSW 1 169,780,649 (GRCm39) missense probably damaging 0.98
R0299:Hsd17b7 UTSW 1 169,787,363 (GRCm39) splice site probably benign
R0723:Hsd17b7 UTSW 1 169,783,595 (GRCm39) missense probably damaging 1.00
R1301:Hsd17b7 UTSW 1 169,788,774 (GRCm39) splice site probably benign
R1449:Hsd17b7 UTSW 1 169,787,251 (GRCm39) splice site probably null
R1806:Hsd17b7 UTSW 1 169,788,698 (GRCm39) missense possibly damaging 0.50
R1874:Hsd17b7 UTSW 1 169,783,562 (GRCm39) missense possibly damaging 0.70
R4824:Hsd17b7 UTSW 1 169,788,764 (GRCm39) missense probably benign 0.10
R4859:Hsd17b7 UTSW 1 169,794,826 (GRCm39) missense possibly damaging 0.82
R5644:Hsd17b7 UTSW 1 169,783,517 (GRCm39) missense probably damaging 0.99
R5889:Hsd17b7 UTSW 1 169,783,487 (GRCm39) missense probably benign 0.00
R8967:Hsd17b7 UTSW 1 169,796,685 (GRCm39) nonsense probably null
R9263:Hsd17b7 UTSW 1 169,794,833 (GRCm39) missense probably damaging 1.00
R9329:Hsd17b7 UTSW 1 169,794,875 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCATTTTCAAAGGTCAGTGATCAG -3'
(R):5'- TTCCTGTGAATTTGGGTGAAAGAAG -3'

Sequencing Primer
(F):5'- GGTCAGTGATCAGATGTAAAAACTTG -3'
(R):5'- GTGAATTTGGGTGAAAGAAGTATTTG -3'
Posted On 2014-10-30