Incidental Mutation 'IGL00786:Otor'
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ID13667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otor
Ensembl Gene ENSMUSG00000027416
Gene Nameotoraplin
SynonymsFdp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL00786
Quality Score
Status
Chromosome2
Chromosomal Location143078473-143081713 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 143079926 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 86 (V86I)
Ref Sequence ENSEMBL: ENSMUSP00000028902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028902]
Predicted Effect probably damaging
Transcript: ENSMUST00000028902
AA Change: V86I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028902
Gene: ENSMUSG00000027416
AA Change: V86I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SH3 42 109 1.69e-5 SMART
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 member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Otor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Otor APN 2 143078612 missense possibly damaging 0.80
IGL02745:Otor APN 2 143081156 missense possibly damaging 0.50
R5917:Otor UTSW 2 143078511 missense probably benign 0.00
R6132:Otor UTSW 2 143078600 missense probably damaging 1.00
R6746:Otor UTSW 2 143080035 critical splice donor site probably null
Posted On2012-12-06