Incidental Mutation 'IGL03374:Hsd17b13'
ID 420434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b13
Ensembl Gene ENSMUSG00000034528
Gene Name hydroxysteroid (17-beta) dehydrogenase 13
Synonyms Pan1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL03374
Quality Score
Status
Chromosome 5
Chromosomal Location 104103308-104125254 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 104124964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048118] [ENSMUST00000112803] [ENSMUST00000120320]
AlphaFold Q8VCR2
Predicted Effect probably benign
Transcript: ENSMUST00000048118
SMART Domains Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528

DomainStartEndE-ValueType
Pfam:KR 37 211 2e-12 PFAM
Pfam:adh_short 37 233 3.6e-48 PFAM
Pfam:adh_short_C2 43 217 5.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112803
SMART Domains Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:adh_short 37 204 1.9e-29 PFAM
Pfam:KR 37 207 9.6e-14 PFAM
Pfam:adh_short_C2 43 218 7.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120320
SMART Domains Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:adh_short 66 168 3.3e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No notable phenotype was detected in a high-throughput phenotype screen of homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Hsd17b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1876:Hsd17b13 UTSW 5 104,116,633 (GRCm39) missense probably damaging 1.00
R4090:Hsd17b13 UTSW 5 104,113,720 (GRCm39) missense probably benign 0.07
R4604:Hsd17b13 UTSW 5 104,104,124 (GRCm39) missense unknown
R4653:Hsd17b13 UTSW 5 104,113,702 (GRCm39) missense probably damaging 1.00
R5899:Hsd17b13 UTSW 5 104,113,730 (GRCm39) missense probably benign 0.00
R7347:Hsd17b13 UTSW 5 104,116,616 (GRCm39) missense probably damaging 0.99
R7871:Hsd17b13 UTSW 5 104,113,681 (GRCm39) missense possibly damaging 0.60
R8288:Hsd17b13 UTSW 5 104,111,701 (GRCm39) missense probably benign 0.00
R8390:Hsd17b13 UTSW 5 104,120,512 (GRCm39) missense probably damaging 1.00
R8483:Hsd17b13 UTSW 5 104,125,049 (GRCm39) missense probably damaging 1.00
R8766:Hsd17b13 UTSW 5 104,125,009 (GRCm39) missense probably benign 0.06
R8857:Hsd17b13 UTSW 5 104,125,063 (GRCm39) missense probably damaging 1.00
R9313:Hsd17b13 UTSW 5 104,113,639 (GRCm39) critical splice donor site probably null
R9369:Hsd17b13 UTSW 5 104,125,034 (GRCm39) missense probably damaging 1.00
R9646:Hsd17b13 UTSW 5 104,124,973 (GRCm39) missense probably null 0.58
R9675:Hsd17b13 UTSW 5 104,111,709 (GRCm39) missense probably benign 0.10
Z1176:Hsd17b13 UTSW 5 104,116,571 (GRCm39) missense probably benign 0.15
Posted On 2016-08-02