Incidental Mutation 'IGL00498:Hsd17b12'
ID7110
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 #IGL00498
Quality Score
Status
Chromosome2
Chromosomal Location94032689-94157964 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 94083165 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028619]
Predicted Effect probably null
Transcript: ENSMUST00000028619
SMART Domains Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,601,898 G128R unknown Het
Acsm5 T C 7: 119,542,438 probably null Het
Atad2 A C 15: 58,116,820 F423V probably damaging Het
Carmil3 T A 14: 55,501,895 probably null Het
Cdc42bpa A C 1: 180,106,121 E775A probably damaging Het
Cfdp1 T C 8: 111,840,478 E133G probably benign Het
Chst3 A G 10: 60,185,619 F469L possibly damaging Het
Dbx1 T C 7: 49,636,474 D81G probably benign Het
Dmp1 A G 5: 104,210,155 probably benign Het
Dnah8 A G 17: 30,677,176 T855A probably benign Het
Fbxw2 C T 2: 34,805,941 A250T probably damaging Het
Fcgbp T C 7: 28,091,797 C828R probably damaging Het
Gmfg G T 7: 28,446,385 R83L possibly damaging Het
Gpr37l1 A G 1: 135,161,702 probably benign Het
Hcfc1r1 G A 17: 23,674,008 R9Q probably damaging Het
Hsd17b1 A T 11: 101,080,058 H280L possibly damaging Het
Itga1 A G 13: 115,031,193 V99A probably benign Het
Kcnn1 A G 8: 70,852,880 S229P probably damaging Het
Klhdc8a A G 1: 132,303,018 N207S probably benign Het
Lrrtm4 T C 6: 80,022,546 W314R probably damaging Het
Malrd1 T C 2: 16,142,186 probably benign Het
Marcks T C 10: 37,138,517 K7E probably damaging Het
Mov10 A G 3: 104,800,947 probably benign Het
Pclo A T 5: 14,540,739 T1018S unknown Het
Sdk1 T C 5: 142,085,606 Y1184H probably damaging Het
Slc6a18 A T 13: 73,671,719 M244K possibly damaging Het
Snx19 C T 9: 30,428,937 T457I possibly damaging Het
Stard3 T A 11: 98,376,530 V158D possibly damaging Het
Tnks G T 8: 34,861,689 probably benign Het
Ugt2b34 A G 5: 86,901,225 S314P probably damaging Het
Usp15 G A 10: 123,113,596 S952L probably benign Het
Utp11 A G 4: 124,679,739 V214A possibly damaging Het
Other mutations in Hsd17b12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Hsd17b12 APN 2 94045414 missense probably damaging 1.00
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 On2012-04-20