Incidental Mutation 'U24488:Ostm1'
ID 509880
Institutional Source Beutler Lab
Gene Symbol Ostm1
Ensembl Gene ENSMUSG00000038280
Gene Name osteopetrosis associated transmembrane protein 1
Synonyms gl, 1200002H13Rik, HSPC019
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.334) question?
Stock # U24488 (G0')
Quality Score 152.008
Status Not validated
Chromosome 10
Chromosomal Location 42554912-42578458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42555227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 83 (D83G)
Ref Sequence ENSEMBL: ENSMUSP00000035516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040718] [ENSMUST00000105497] [ENSMUST00000144806]
AlphaFold Q8BGT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040718
AA Change: D83G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: D83G

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 probably benign
Transcript: ENSMUST00000105497
SMART Domains Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280

DomainStartEndE-ValueType
Pfam:OSTMP1 1 171 1.1e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144806
SMART Domains Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280

DomainStartEndE-ValueType
Pfam:OSTMP1 1 169 4.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154048
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Ostm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Ostm1 APN 10 42,574,147 (GRCm39) missense possibly damaging 0.95
IGL02974:Ostm1 APN 10 42,559,158 (GRCm39) missense probably damaging 1.00
IGL03195:Ostm1 APN 10 42,574,213 (GRCm39) missense probably damaging 1.00
IGL03282:Ostm1 APN 10 42,574,227 (GRCm39) missense probably damaging 1.00
IGL03385:Ostm1 APN 10 42,574,140 (GRCm39) missense probably damaging 1.00
Schwer UTSW 10 42,555,325 (GRCm39) missense probably damaging 1.00
steinknochel UTSW 10 42,559,268 (GRCm39) missense probably null 0.96
R0069:Ostm1 UTSW 10 42,568,952 (GRCm39) missense probably benign 0.19
R0111:Ostm1 UTSW 10 42,555,254 (GRCm39) missense probably damaging 1.00
R0480:Ostm1 UTSW 10 42,572,343 (GRCm39) missense probably damaging 1.00
R4274:Ostm1 UTSW 10 42,574,230 (GRCm39) missense probably damaging 1.00
R4433:Ostm1 UTSW 10 42,555,119 (GRCm39) missense probably benign 0.21
R4731:Ostm1 UTSW 10 42,554,975 (GRCm39) intron probably benign
R5619:Ostm1 UTSW 10 42,555,325 (GRCm39) missense probably damaging 1.00
R7140:Ostm1 UTSW 10 42,559,268 (GRCm39) missense probably null 0.96
R7400:Ostm1 UTSW 10 42,574,213 (GRCm39) missense probably damaging 1.00
R7715:Ostm1 UTSW 10 42,559,183 (GRCm39) missense probably benign
R8336:Ostm1 UTSW 10 42,572,334 (GRCm39) missense probably damaging 1.00
R9248:Ostm1 UTSW 10 42,574,210 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTATCTGTTACAGTCCGGC -3'
(R):5'- AGACCGTCCAATGCCGTTTC -3'

Sequencing Primer
(F):5'- GAGCTGGCGCGCAGTAG -3'
(R):5'- AGGCTGCTCCTCTACCCAC -3'
Posted On 2018-04-02