Incidental Mutation 'R0681:Hsd17b11'
ID 60963
Institutional Source Beutler Lab
Gene Symbol Hsd17b11
Ensembl Gene ENSMUSG00000029311
Gene Name hydroxysteroid (17-beta) dehydrogenase 11
Synonyms 17beta-HSD11, Pan1b, Dhrs8, retSDR2
MMRRC Submission 038866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0681 (G1)
Quality Score 101
Status Validated
Chromosome 5
Chromosomal Location 104137631-104169662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104151072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 221 (I221L)
Ref Sequence ENSEMBL: ENSMUSP00000113455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031251] [ENSMUST00000119025]
AlphaFold Q9EQ06
Predicted Effect probably benign
Transcript: ENSMUST00000031251
AA Change: I221L

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031251
Gene: ENSMUSG00000029311
AA Change: I221L

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 benign
Transcript: ENSMUST00000119025
AA Change: I221L

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113455
Gene: ENSMUSG00000029311
AA Change: I221L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,676,649 (GRCm39) D1341Y probably damaging Het
Ahdc1 T C 4: 132,792,827 (GRCm39) F1356S possibly damaging Het
Cdk13 A G 13: 17,895,882 (GRCm39) probably benign Het
Cfhr1 A T 1: 139,485,249 (GRCm39) S66T probably damaging Het
Cldn6 C A 17: 23,900,167 (GRCm39) Q44K probably damaging Het
Cntnap5c T C 17: 58,612,550 (GRCm39) V863A possibly damaging Het
Col6a4 T A 9: 105,944,343 (GRCm39) K1044* probably null Het
Cyb561d1 A G 3: 108,106,583 (GRCm39) V212A probably benign Het
Cyp1b1 A G 17: 80,021,275 (GRCm39) S156P probably damaging Het
Dock7 G A 4: 98,904,941 (GRCm39) H645Y probably damaging Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Fastkd3 C T 13: 68,740,047 (GRCm39) probably benign Het
Galnt10 T A 11: 57,660,366 (GRCm39) V268D probably damaging Het
Grb14 G T 2: 64,747,631 (GRCm39) A10E probably damaging Het
Grin2c A G 11: 115,140,479 (GRCm39) V1213A probably benign Het
Grip1 C T 10: 119,846,135 (GRCm39) T570I probably damaging Het
Hif1an T C 19: 44,551,762 (GRCm39) Y71H probably benign Het
Htra1 A T 7: 130,581,027 (GRCm39) probably benign Het
Igfn1 T C 1: 135,891,591 (GRCm39) E2308G possibly damaging Het
Mapk9 T A 11: 49,760,072 (GRCm39) S129T probably damaging Het
Med22 T C 2: 26,800,391 (GRCm39) T13A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mtus1 A T 8: 41,446,554 (GRCm39) L489Q probably damaging Het
Naprt G A 15: 75,765,481 (GRCm39) P120S probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Ogfod2 A G 5: 124,250,907 (GRCm39) E62G probably null Het
Or13a1 A T 6: 116,471,361 (GRCm39) S264C probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Palm A C 10: 79,655,327 (GRCm39) T362P probably benign Het
Pcare T G 17: 72,056,509 (GRCm39) H1056P probably benign Het
Pcdh8 T C 14: 80,007,400 (GRCm39) T388A probably benign Het
Pclo A G 5: 14,725,332 (GRCm39) I1397V unknown Het
Per1 A G 11: 68,992,027 (GRCm39) E127G probably damaging Het
Plekha1 T C 7: 130,502,353 (GRCm39) V30A possibly damaging Het
Pramel24 A T 4: 143,454,622 (GRCm39) T307S probably benign Het
Rab26 A G 17: 24,746,940 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,750 (GRCm39) D999G possibly damaging Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rrp1b T C 17: 32,279,369 (GRCm39) S677P probably damaging Het
Scaf4 G A 16: 90,046,582 (GRCm39) P485S unknown Het
Scn5a A T 9: 119,368,706 (GRCm39) M273K probably damaging Het
Sec22a C T 16: 35,181,926 (GRCm39) probably null Het
Slc10a6 C A 5: 103,760,315 (GRCm39) V227F possibly damaging Het
Slc39a3 C G 10: 80,869,565 (GRCm39) E31Q probably benign Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Tdrd7 T A 4: 46,016,879 (GRCm39) M673K probably benign Het
Trim8 C A 19: 46,503,532 (GRCm39) S361R possibly damaging Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Vmn1r46 A T 6: 89,953,946 (GRCm39) D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 (GRCm39) I532M probably damaging Het
Other mutations in Hsd17b11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03237:Hsd17b11 APN 5 104,151,036 (GRCm39) makesense probably null
R0905:Hsd17b11 UTSW 5 104,157,744 (GRCm39) missense probably benign 0.05
R1611:Hsd17b11 UTSW 5 104,157,765 (GRCm39) missense probably benign 0.26
R3951:Hsd17b11 UTSW 5 104,140,803 (GRCm39) splice site probably benign
R4083:Hsd17b11 UTSW 5 104,138,434 (GRCm39) missense possibly damaging 0.53
R4913:Hsd17b11 UTSW 5 104,140,748 (GRCm39) missense probably benign 0.00
R5030:Hsd17b11 UTSW 5 104,151,158 (GRCm39) missense probably damaging 0.99
R5034:Hsd17b11 UTSW 5 104,166,087 (GRCm39) missense possibly damaging 0.72
R5965:Hsd17b11 UTSW 5 104,169,651 (GRCm39) start gained probably benign
R7844:Hsd17b11 UTSW 5 104,166,132 (GRCm39) missense probably damaging 1.00
R7982:Hsd17b11 UTSW 5 104,151,090 (GRCm39) missense possibly damaging 0.62
R8016:Hsd17b11 UTSW 5 104,169,526 (GRCm39) missense probably damaging 0.97
R8688:Hsd17b11 UTSW 5 104,169,584 (GRCm39) missense probably benign 0.13
R8705:Hsd17b11 UTSW 5 104,140,703 (GRCm39) missense probably benign
R8915:Hsd17b11 UTSW 5 104,140,802 (GRCm39) critical splice acceptor site probably null
R9779:Hsd17b11 UTSW 5 104,157,771 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCATCAGGTATCAGGCGGTTCAG -3'
(R):5'- AGCAAACACTCCGTAGGTTTCAGG -3'

Sequencing Primer
(F):5'- GCCAGCTTACTTGGTGCTT -3'
(R):5'- TTAGGAATGAAGCTCTGCCC -3'
Posted On 2013-07-30