Incidental Mutation 'R8288:Hsd17b13'
ID 638522
Institutional Source Beutler Lab
Gene Symbol Hsd17b13
Ensembl Gene ENSMUSG00000034528
Gene Name hydroxysteroid (17-beta) dehydrogenase 13
Synonyms Pan1b
MMRRC Submission 067710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 104103308-104125254 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104111701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 281 (I281L)
Ref Sequence ENSEMBL: ENSMUSP00000108422 (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
AA Change: I281L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: I281L

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
AA Change: I245L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: I245L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:adh_short 66 168 3.3e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 C T 8: 23,283,153 (GRCm39) A200T probably benign Het
Arpp19 T C 9: 74,944,914 (GRCm39) M1T probably null Het
Baiap2 T A 11: 119,888,465 (GRCm39) V407E probably damaging Het
Cdh18 A G 15: 23,446,073 (GRCm39) T508A probably damaging Het
Cnnm3 C A 1: 36,551,074 (GRCm39) A28E possibly damaging Het
Cpb1 A T 3: 20,319,531 (GRCm39) C184* probably null Het
Ddb1 T C 19: 10,585,712 (GRCm39) V142A probably benign Het
Disp2 T C 2: 118,620,762 (GRCm39) V498A probably damaging Het
Dmgdh T C 13: 93,845,332 (GRCm39) Y442H probably damaging Het
Dync2i1 A G 12: 116,177,345 (GRCm39) F811S probably damaging Het
Eef2k T A 7: 120,502,604 (GRCm39) M722K probably damaging Het
Erbb4 A G 1: 68,337,509 (GRCm39) F603S probably damaging Het
Filip1l C T 16: 57,390,917 (GRCm39) R502C probably damaging Het
Gbp9 C T 5: 105,253,599 (GRCm39) V39M probably damaging Het
Gm17079 T C 14: 51,931,815 (GRCm39) Y98C Het
Gstz1 A G 12: 87,194,604 (GRCm39) M1V probably null Het
Hydin A G 8: 111,233,661 (GRCm39) E1833G probably damaging Het
Irs1 G A 1: 82,265,682 (GRCm39) Q845* probably null Het
Kctd11 C T 11: 69,770,883 (GRCm39) G52R probably damaging Het
Kit T C 5: 75,815,149 (GRCm39) S962P probably damaging Het
Lrrn1 C T 6: 107,543,955 (GRCm39) probably benign Het
Mastl T C 2: 23,023,371 (GRCm39) K451E probably damaging Het
Mptx2 A G 1: 173,102,356 (GRCm39) V111A probably benign Het
Nuak2 G T 1: 132,255,579 (GRCm39) C178F probably damaging Het
Pah G A 10: 87,374,047 (GRCm39) R71H probably benign Het
Pclo C A 5: 14,762,885 (GRCm39) T501K Het
Pla2g4e C T 2: 120,018,990 (GRCm39) probably null Het
Polq A G 16: 36,848,272 (GRCm39) E293G probably damaging Het
Rptor G A 11: 119,748,763 (GRCm39) E782K probably benign Het
Scn7a T A 2: 66,506,318 (GRCm39) R1524W probably damaging Het
Slc4a5 T C 6: 83,203,237 (GRCm39) S46P probably benign Het
Srcap T A 7: 127,130,528 (GRCm39) I664N probably damaging Het
Stk24 A C 14: 121,530,841 (GRCm39) F372V possibly damaging Het
Szt2 T C 4: 118,246,973 (GRCm39) S881G probably damaging Het
Trim40 T C 17: 37,194,210 (GRCm39) D161G probably benign Het
Trip11 T C 12: 101,860,643 (GRCm39) H234R possibly damaging Het
Trpc1 T C 9: 95,603,434 (GRCm39) K366R probably damaging Het
Ugt2b35 T C 5: 87,149,316 (GRCm39) L189P probably damaging Het
Unc80 A G 1: 66,512,509 (GRCm39) S140G probably benign Het
Zfp446 A G 7: 12,711,885 (GRCm39) E36G probably benign Het
Zfp738 T A 13: 67,818,908 (GRCm39) H361L possibly damaging Het
Other mutations in Hsd17b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03374:Hsd17b13 APN 5 104,124,964 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTTATGCACTCGATGGCTGC -3'
(R):5'- GTCATCCAATTTTGCTGTTCTGAG -3'

Sequencing Primer
(F):5'- GCTAGGGTCAAGCCTACATTTTAAAC -3'
(R):5'- ATATAGATAACTGTAGATGGGGTGG -3'
Posted On 2020-07-28