Incidental Mutation 'IGL00785:Hsd17b12'
ID11348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b12
Ensembl Gene ENSMUSG00000027195
Gene Namehydroxysteroid (17-beta) dehydrogenase 12
Synonymskeratonectin, keratoadhesin, 2610510O05Rik, KIK-I
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00785
Quality Score
Status
Chromosome2
Chromosomal Location94032689-94157964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94045414 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 189 (S189P)
Ref Sequence ENSEMBL: ENSMUSP00000028619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028619]
Predicted Effect probably damaging
Transcript: ENSMUST00000028619
AA Change: S189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: S189P

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:adh_short 51 248 1.5e-46 PFAM
Pfam:KR 52 125 4.4e-7 PFAM
Pfam:adh_short_C2 57 277 7.5e-10 PFAM
low complexity region 298 312 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146580
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpt1a T A 19: 3,366,389 N313K possibly damaging Het
Crb2 G A 2: 37,792,064 C819Y probably damaging Het
Ctnna3 T G 10: 63,566,833 F108V probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fam120a A G 13: 48,889,133 S931P probably benign Het
Ganc A C 2: 120,441,598 Y579S probably damaging Het
Kif11 C A 19: 37,404,297 L559I probably benign Het
Kif11 T C 19: 37,404,298 L559P probably damaging Het
Luc7l2 T C 6: 38,598,786 S261P possibly damaging Het
Myo7a T C 7: 98,054,348 K2035E probably damaging Het
Nbea A G 3: 55,955,393 S1813P probably benign Het
Osbpl8 A G 10: 111,273,044 T396A probably benign Het
Ppfibp2 A G 7: 107,737,887 T560A probably benign Het
Rictor A C 15: 6,776,950 Q683P probably damaging Het
Ryr3 A T 2: 112,836,103 H1519Q possibly damaging Het
Slc34a2 A T 5: 53,065,608 I347F probably benign Het
Sned1 C A 1: 93,274,169 probably benign Het
Ssfa2 A G 2: 79,657,268 E565G possibly damaging Het
St7l A G 3: 104,873,579 probably benign Het
Trmu T A 15: 85,882,831 D80E probably benign Het
Trpv4 A G 5: 114,628,625 V620A probably damaging Het
Ubr2 G A 17: 46,944,865 T1370I possibly damaging Het
Xpo5 T C 17: 46,204,692 V48A probably damaging Het
Zfp638 T C 6: 83,929,164 W104R probably damaging Het
Other mutations in Hsd17b12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Hsd17b12 APN 2 94083165 critical splice donor site probably null
IGL02230:Hsd17b12 APN 2 94045398 missense possibly damaging 0.94
IGL02635:Hsd17b12 APN 2 94083211 missense possibly damaging 0.93
IGL03094:Hsd17b12 APN 2 94033994 missense probably damaging 1.00
R0242:Hsd17b12 UTSW 2 94157815 missense probably benign 0.14
R0242:Hsd17b12 UTSW 2 94157815 missense probably benign 0.14
R0390:Hsd17b12 UTSW 2 94114990 splice site probably benign
R0552:Hsd17b12 UTSW 2 94043935 missense probably damaging 1.00
R0605:Hsd17b12 UTSW 2 94033642 missense probably benign 0.00
R1585:Hsd17b12 UTSW 2 94033976 missense probably damaging 1.00
R1681:Hsd17b12 UTSW 2 94033561 missense unknown
R1922:Hsd17b12 UTSW 2 94045392 missense probably benign 0.00
R2190:Hsd17b12 UTSW 2 94034063 missense probably benign 0.02
R2384:Hsd17b12 UTSW 2 94033619 missense probably benign
R3123:Hsd17b12 UTSW 2 94033958 missense probably benign 0.03
R3124:Hsd17b12 UTSW 2 94033958 missense probably benign 0.03
R3125:Hsd17b12 UTSW 2 94033958 missense probably benign 0.03
R4283:Hsd17b12 UTSW 2 94033586 missense unknown
R5218:Hsd17b12 UTSW 2 94083263 missense probably benign 0.02
R5357:Hsd17b12 UTSW 2 94033645 missense possibly damaging 0.47
R6020:Hsd17b12 UTSW 2 94033977 missense probably damaging 1.00
R6493:Hsd17b12 UTSW 2 94043883 missense probably damaging 1.00
R7792:Hsd17b12 UTSW 2 94033641 missense probably benign 0.00
Posted On2012-12-06