Incidental Mutation 'IGL02494:Hsd17b10'
ID 295761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b10
Ensembl Gene ENSMUSG00000025260
Gene Name hydroxysteroid (17-beta) dehydrogenase 10
Synonyms ERAB, Ads9, Hadh2
Accession Numbers
Essential gene? Not available question?
Stock # IGL02494
Quality Score
Status
Chromosome X
Chromosomal Location 150784892-150787438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 150787230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 241 (A241S)
Ref Sequence ENSEMBL: ENSMUSP00000108236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026288] [ENSMUST00000026289] [ENSMUST00000112617]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026288
SMART Domains Protein: ENSMUSP00000026288
Gene: ENSMUSG00000025257

DomainStartEndE-ValueType
Pfam:RIB43A 4 379 1.6e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026289
AA Change: A231S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026289
Gene: ENSMUSG00000025260
AA Change: A231S

DomainStartEndE-ValueType
Pfam:adh_short 11 187 4.3e-31 PFAM
Pfam:KR 12 202 5.7e-14 PFAM
Pfam:adh_short_C2 17 257 2.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112617
AA Change: A241S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108236
Gene: ENSMUSG00000025260
AA Change: A241S

DomainStartEndE-ValueType
Pfam:adh_short 11 197 6.7e-26 PFAM
Pfam:KR 12 212 5.8e-9 PFAM
Pfam:adh_short_C2 17 267 3.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151200
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 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Posted On 2015-04-16