Incidental Mutation 'R4090:Hsd17b13'
ID317556
Institutional Source Beutler Lab
Gene Symbol Hsd17b13
Ensembl Gene ENSMUSG00000034528
Gene Namehydroxysteroid (17-beta) dehydrogenase 13
SynonymsPan1b
MMRRC Submission 040983-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #R4090 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location103955440-103977410 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103965854 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 245 (S245C)
Ref Sequence ENSEMBL: ENSMUSP00000108422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048118] [ENSMUST00000112803] [ENSMUST00000120320]
Predicted Effect probably benign
Transcript: ENSMUST00000048118
AA Change: S245C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528
AA Change: S245C

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: S245C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: S245C

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: S209C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: S209C

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:adh_short 66 168 3.3e-12 PFAM
Meta Mutation Damage Score 0.186 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,212,358 probably null Het
Acss3 T G 10: 107,053,452 Y169S probably damaging Het
Apc2 A G 10: 80,305,544 K268E probably damaging Het
Arhgef2 G C 3: 88,643,878 R765P probably benign Het
Bptf T C 11: 107,081,523 K840E probably damaging Het
Carf A G 1: 60,136,347 R245G possibly damaging Het
Cd36 A G 5: 17,785,720 probably null Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Cldn34c4 A T X: 127,721,388 V153E probably damaging Het
Col4a4 T A 1: 82,523,922 Y370F unknown Het
Ddx4 A G 13: 112,613,761 V386A probably benign Het
Exoc6 A G 19: 37,571,912 T126A probably benign Het
Fam83f A T 15: 80,692,192 N348I possibly damaging Het
Gja8 A G 3: 96,919,152 V398A probably benign Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm12789 A T 4: 101,988,329 T72S possibly damaging Het
Gm1988 A G 7: 39,170,868 noncoding transcript Het
Gm21370 A G 13: 120,026,953 V20A probably benign Het
Hjurp G C 1: 88,277,215 probably benign Het
Htr1f T C 16: 64,925,961 K323E probably benign Het
Igkc T C 6: 70,726,458 probably benign Het
Ksr1 T C 11: 79,027,477 E535G probably damaging Het
Mlxipl A T 5: 135,132,527 E433D probably benign Het
Npc1 T C 18: 12,198,162 probably null Het
Olfr1328 C T 4: 118,934,033 E272K probably benign Het
Olfr220 A G 1: 174,448,934 T104A probably benign Het
Olfr389 A G 11: 73,776,841 L162P probably damaging Het
Olfr829 T C 9: 18,857,102 I159T probably benign Het
Pcdha3 A G 18: 36,948,451 R749G probably benign Het
Ppme1 A T 7: 100,347,837 N122K possibly damaging Het
Rasal1 G A 5: 120,675,609 V657M possibly damaging Het
Rbm47 A G 5: 66,022,737 M409T probably benign Het
Rragd C T 4: 33,007,155 T161M probably damaging Het
Slurp1 T C 15: 74,726,875 H89R possibly damaging Het
Snap23 A G 2: 120,585,580 I42V probably benign Het
Sypl2 A G 3: 108,217,676 I123T possibly damaging Het
Taar8a T A 10: 24,077,164 V222E probably damaging Het
Tmem171 A T 13: 98,692,588 V18D probably damaging Het
Topors T C 4: 40,260,794 D830G unknown Het
Traf3ip3 A G 1: 193,181,320 V414A probably damaging Het
Tubg1 T A 11: 101,124,538 M270K possibly damaging Het
Vmn1r188 T C 13: 22,088,602 V242A probably benign Het
Vmn1r19 T A 6: 57,404,735 I91N probably damaging Het
Vmn2r12 T A 5: 109,091,546 M384L probably benign Het
Wdr26 T C 1: 181,203,114 E205G probably damaging Het
Zfp281 T A 1: 136,626,121 I279N probably damaging Het
Zfp398 T A 6: 47,866,225 C272S probably damaging Het
Zfp975 A G 7: 42,662,874 V105A probably benign Het
Other mutations in Hsd17b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03374:Hsd17b13 APN 5 103977098 splice site probably benign
R1876:Hsd17b13 UTSW 5 103968767 missense probably damaging 1.00
R4604:Hsd17b13 UTSW 5 103956258 missense unknown
R4653:Hsd17b13 UTSW 5 103965836 missense probably damaging 1.00
R5899:Hsd17b13 UTSW 5 103965864 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGACTTTCACTGCAGCCATG -3'
(R):5'- GAAGCCTGGAACATTGTAAATCC -3'

Sequencing Primer
(F):5'- CCATGGGGAGTTTCCATAGCAAC -3'
(R):5'- TTGGTGAAGAGACAGGATAATTTCC -3'
Posted On2015-05-15