Incidental Mutation 'R9329:Hsd17b7'
ID 706700
Institutional Source Beutler Lab
Gene Symbol Hsd17b7
Ensembl Gene ENSMUSG00000026675
Gene Name hydroxysteroid (17-beta) dehydrogenase 7
Synonyms ERG27
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9329 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 169777104-169796810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 169794875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 55 (A55S)
Ref Sequence ENSEMBL: ENSMUSP00000106985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027989] [ENSMUST00000111353]
AlphaFold O88736
Predicted Effect possibly damaging
Transcript: ENSMUST00000027989
AA Change: A55S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: A55S

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: A55S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: A55S

DomainStartEndE-ValueType
Pfam:KR 3 103 2.3e-8 PFAM
Pfam:adh_short 3 236 5.2e-28 PFAM
Meta Mutation Damage Score 0.2017 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T G 6: 83,133,556 (GRCm39) M1R probably null Het
Acap2 T C 16: 30,946,238 (GRCm39) D235G probably damaging Het
Adgrv1 C A 13: 81,647,241 (GRCm39) V3100F probably damaging Het
Aff4 A G 11: 53,288,686 (GRCm39) T401A probably damaging Het
Apcs T C 1: 172,722,391 (GRCm39) T22A probably benign Het
Atf7ip2 T C 16: 10,059,738 (GRCm39) V426A possibly damaging Het
Bach2 A G 4: 32,562,175 (GRCm39) D214G possibly damaging Het
Baz2a C T 10: 127,960,925 (GRCm39) A1578V possibly damaging Het
Camk1d T C 2: 5,449,954 (GRCm39) I76V probably benign Het
Ccdc182 A T 11: 88,185,324 (GRCm39) M135L probably benign Het
Cd47 C T 16: 49,716,731 (GRCm39) T201I Het
Chodl T C 16: 78,746,030 (GRCm39) S290P possibly damaging Het
Chst15 A G 7: 131,868,520 (GRCm39) L300P possibly damaging Het
Ciita T C 16: 10,324,571 (GRCm39) S168P probably damaging Het
Cntn2 C T 1: 132,456,678 (GRCm39) V123I probably benign Het
Cyld T A 8: 89,457,348 (GRCm39) L527Q probably benign Het
Dbn1 T A 13: 55,631,241 (GRCm39) Y34F probably damaging Het
Enc1 C A 13: 97,383,018 (GRCm39) Y509* probably null Het
Ermard A T 17: 15,273,643 (GRCm39) E409D probably benign Het
Extl3 T C 14: 65,314,765 (GRCm39) E139G possibly damaging Het
Fa2h A T 8: 112,082,115 (GRCm39) V177E possibly damaging Het
Flot2 T C 11: 77,949,772 (GRCm39) I367T probably damaging Het
Fras1 T C 5: 96,884,813 (GRCm39) Y2564H probably damaging Het
Fxyd3 A G 7: 30,773,018 (GRCm39) V10A probably benign Het
Gfra3 A G 18: 34,837,560 (GRCm39) L146P probably damaging Het
Gm49359 T C 13: 62,602,448 (GRCm39) N251D probably benign Het
Hps6 A G 19: 45,992,542 (GRCm39) S160G probably benign Het
Hspa12a T C 19: 58,789,298 (GRCm39) D446G probably benign Het
Htt G A 5: 34,989,957 (GRCm39) R1163Q possibly damaging Het
Ift81 T C 5: 122,697,833 (GRCm39) probably null Het
Ighv5-15 T G 12: 113,790,395 (GRCm39) Y75S probably benign Het
Kcnd2 T A 6: 21,725,981 (GRCm39) H491Q probably damaging Het
Lamb3 C A 1: 193,014,665 (GRCm39) T608K probably benign Het
Lrtm2 T A 6: 119,297,412 (GRCm39) K210* probably null Het
Med13 G T 11: 86,189,283 (GRCm39) P1209T probably benign Het
Mtus1 G A 8: 41,537,239 (GRCm39) T159I probably damaging Het
Myt1l A G 12: 29,901,659 (GRCm39) M805V unknown Het
Neb G T 2: 52,160,231 (GRCm39) L2261I probably benign Het
Nlrp4c G A 7: 6,068,498 (GRCm39) R133H probably benign Het
Nol11 A T 11: 107,071,765 (GRCm39) L276Q probably damaging Het
Nrap A G 19: 56,350,277 (GRCm39) Y614H probably damaging Het
Or13c9 G A 4: 52,936,211 (GRCm39) T24M probably damaging Het
Or52p1 A G 7: 104,267,705 (GRCm39) H273R probably damaging Het
Pou2f3 A G 9: 43,040,224 (GRCm39) S355P probably damaging Het
Ppm1l C A 3: 69,460,453 (GRCm39) N343K probably damaging Het
Prh1 A T 6: 132,548,573 (GRCm39) I27F unknown Het
Prkrip1 A T 5: 136,223,203 (GRCm39) L85Q probably damaging Het
Pycr3 C T 15: 75,790,563 (GRCm39) V99I probably benign Het
R3hdm4 T A 10: 79,749,393 (GRCm39) N72I probably damaging Het
Rab11fip3 G T 17: 26,231,032 (GRCm39) H738N probably benign Het
Rtl1 G A 12: 109,556,673 (GRCm39) A1722V possibly damaging Het
Sell A G 1: 163,893,122 (GRCm39) N113D probably damaging Het
Smarcal1 T C 1: 72,665,697 (GRCm39) S732P probably damaging Het
Smurf2 A T 11: 106,743,424 (GRCm39) D207E probably benign Het
Spata31h1 G A 10: 82,121,439 (GRCm39) S3857L probably benign Het
Tat C T 8: 110,723,510 (GRCm39) R333C probably benign Het
Tmem121b A T 6: 120,469,234 (GRCm39) F494L probably damaging Het
Tmem198 C A 1: 75,456,522 (GRCm39) P89Q probably damaging Het
Tnks2 T G 19: 36,835,284 (GRCm39) C2G probably damaging Het
Trappc9 T C 15: 72,673,202 (GRCm39) E869G unknown Het
Trim42 T A 9: 97,251,584 (GRCm39) K105M probably benign Het
Ttll3 T C 6: 113,369,635 (GRCm39) S60P probably benign Het
Ttll4 T A 1: 74,725,121 (GRCm39) I625N possibly damaging Het
Tubgcp5 T A 7: 55,479,181 (GRCm39) probably null Het
Txlnb A T 10: 17,682,594 (GRCm39) Y172F probably damaging Het
Ube2e3 A T 2: 78,744,035 (GRCm39) D88V possibly damaging Het
Vmn1r189 T A 13: 22,286,430 (GRCm39) I136L probably benign Het
Vmn2r71 A G 7: 85,267,950 (GRCm39) I135V probably benign Het
Vmn2r73 T A 7: 85,519,073 (GRCm39) R516S probably benign Het
Wrn C T 8: 33,731,006 (GRCm39) E1352K probably benign Het
Zfp318 T C 17: 46,722,139 (GRCm39) S1381P probably damaging Het
Zfp747 A T 7: 126,973,655 (GRCm39) Y172N 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
R2365:Hsd17b7 UTSW 1 169,792,009 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ACCTGTCCAGTTTGATTAAATGCC -3'
(R):5'- TGAACCAGAGAGAACTGCCTTC -3'

Sequencing Primer
(F):5'- AAGAAGAGTCCTTTTAAGCTATGCCC -3'
(R):5'- GAGAGAACTGCCTTCATTTAACAC -3'
Posted On 2022-04-18