Incidental Mutation 'IGL03237:Hsd17b11'
ID414118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b11
Ensembl Gene ENSMUSG00000029311
Gene Namehydroxysteroid (17-beta) dehydrogenase 11
SynonymsPan1b, Dhrs8, retSDR2, 17beta-HSD11
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03237
Quality Score
Status
Chromosome5
Chromosomal Location103989762-104021919 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 104003170 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 233 (*233Q)
Ref Sequence ENSEMBL: ENSMUSP00000113455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031251] [ENSMUST00000119025]
Predicted Effect probably null
Transcript: ENSMUST00000031251
SMART Domains Protein: ENSMUSP00000031251
Gene: ENSMUSG00000029311

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:KR 37 212 3e-9 PFAM
Pfam:adh_short 37 233 6.8e-52 PFAM
Pfam:adh_short_C2 43 227 9.7e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119025
AA Change: *233Q
SMART Domains Protein: ENSMUSP00000113455
Gene: ENSMUSG00000029311
AA Change: *233Q

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:adh_short 37 204 6.1e-31 PFAM
Pfam:KR 38 212 5.2e-11 PFAM
Pfam:adh_short_C2 43 228 3.6e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Homozygous mutant mice exhibit an increased mean serum IgG2a response to ovalbumin challenge and an increased mean percentage of immature B cells in bone marrow. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Hsd17b11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0681:Hsd17b11 UTSW 5 104003206 missense probably benign 0.09
R0905:Hsd17b11 UTSW 5 104009878 missense probably benign 0.05
R1611:Hsd17b11 UTSW 5 104009899 missense probably benign 0.26
R3951:Hsd17b11 UTSW 5 103992937 splice site probably benign
R4083:Hsd17b11 UTSW 5 103990568 missense possibly damaging 0.53
R4913:Hsd17b11 UTSW 5 103992882 missense probably benign 0.00
R5030:Hsd17b11 UTSW 5 104003292 missense probably damaging 0.99
R5034:Hsd17b11 UTSW 5 104018221 missense possibly damaging 0.72
R5965:Hsd17b11 UTSW 5 104021785 start gained probably benign
R7844:Hsd17b11 UTSW 5 104018266 missense probably damaging 1.00
R7982:Hsd17b11 UTSW 5 104003224 missense possibly damaging 0.62
R8016:Hsd17b11 UTSW 5 104021660 missense probably damaging 0.97
Posted On2016-08-02