Incidental Mutation 'IGL03195:Ostm1'
ID412782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ostm1
Ensembl Gene ENSMUSG00000038280
Gene Nameosteopetrosis associated transmembrane protein 1
Synonymsgl, 1200002H13Rik, HSPC019
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.392) question?
Stock #IGL03195
Quality Score
Status
Chromosome10
Chromosomal Location42583822-42702459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 42698217 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 302 (V302A)
Ref Sequence ENSEMBL: ENSMUSP00000035516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040718] [ENSMUST00000105497] [ENSMUST00000144806]
Predicted Effect probably damaging
Transcript: ENSMUST00000040718
AA Change: V302A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: V302A

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 59 84 N/A INTRINSIC
Pfam:OSTMP1 88 332 1.9e-87 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105497
AA Change: V147A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280
AA Change: V147A

DomainStartEndE-ValueType
Pfam:OSTMP1 1 171 1.1e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144806
AA Change: V147A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280
AA Change: V147A

DomainStartEndE-ValueType
Pfam:OSTMP1 1 169 4.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154048
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 protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Ostm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Ostm1 APN 10 42698151 missense possibly damaging 0.95
IGL02974:Ostm1 APN 10 42683162 missense probably damaging 1.00
IGL03282:Ostm1 APN 10 42698231 missense probably damaging 1.00
IGL03385:Ostm1 APN 10 42698144 missense probably damaging 1.00
Schwer UTSW 10 42679329 missense probably damaging 1.00
steinknochel UTSW 10 42683272 missense probably null 0.96
R0069:Ostm1 UTSW 10 42692956 missense probably benign 0.19
R0111:Ostm1 UTSW 10 42679258 missense probably damaging 1.00
R0480:Ostm1 UTSW 10 42696347 missense probably damaging 1.00
R4274:Ostm1 UTSW 10 42698234 missense probably damaging 1.00
R4433:Ostm1 UTSW 10 42679123 missense probably benign 0.21
R4731:Ostm1 UTSW 10 42678979 intron probably benign
R5619:Ostm1 UTSW 10 42679329 missense probably damaging 1.00
R7140:Ostm1 UTSW 10 42683272 missense probably null 0.96
R7400:Ostm1 UTSW 10 42698217 missense probably damaging 1.00
R7715:Ostm1 UTSW 10 42683187 missense probably benign
R8336:Ostm1 UTSW 10 42696338 missense probably damaging 1.00
U24488:Ostm1 UTSW 10 42679231 missense possibly damaging 0.84
Posted On2016-08-02