Incidental Mutation 'IGL01938:2310003L06Rik'
ID180749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310003L06Rik
Ensembl Gene ENSMUSG00000007457
Gene NameRIKEN cDNA 2310003L06 gene
Synonyms
Accession Numbers

Genbank: AK009122; MGI: 1921498

Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01938
Quality Score
Status
Chromosome5
Chromosomal Location87969459-87972870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87971708 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 108 (T108I)
Ref Sequence ENSEMBL: ENSMUSP00000007601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]
Predicted Effect probably damaging
Transcript: ENSMUST00000007601
AA Change: T108I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: T108I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A G 8: 43,651,016 Y531H probably damaging Het
Arhgef10 T A 8: 14,991,062 N1077K probably benign Het
BC034090 G T 1: 155,232,592 probably null Het
C87499 A G 4: 88,629,363 S24P possibly damaging Het
Cachd1 A G 4: 100,974,128 I706V possibly damaging Het
Cebpz A T 17: 78,934,961 C421* probably null Het
Celsr3 T C 9: 108,828,415 V699A probably benign Het
Col5a1 A G 2: 27,996,873 N935S unknown Het
Dnah1 C T 14: 31,283,887 V2312I probably benign Het
Ebf3 T C 7: 137,309,318 T156A probably damaging Het
Ern1 A G 11: 106,411,657 V457A probably benign Het
Fam129a A G 1: 151,689,614 T232A probably benign Het
Flii T C 11: 60,715,116 Y1177C probably damaging Het
Fryl T A 5: 73,122,364 K197M probably damaging Het
Glb1l3 A G 9: 26,818,529 F515S probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Kif26b T C 1: 178,916,038 I1233T probably damaging Het
Kptn A G 7: 16,124,789 Y286C probably damaging Het
Lyst A G 13: 13,637,424 N807S possibly damaging Het
Mki67 C T 7: 135,694,330 V2992M probably benign Het
Myocd A G 11: 65,187,088 L627P probably damaging Het
Neto2 A G 8: 85,690,855 I40T probably benign Het
Nipsnap1 C T 11: 4,893,134 H269Y probably benign Het
Nlrp4g G A 9: 124,349,068 noncoding transcript Het
Nup188 A T 2: 30,329,359 R862S probably benign Het
Olfr1 T A 11: 73,395,645 I126F probably damaging Het
Olfr1253 G T 2: 89,752,348 A160D probably benign Het
Olfr820 T A 10: 130,018,112 Y250* probably null Het
Pde4c A T 8: 70,749,378 K549N probably damaging Het
Pkd1l3 A G 8: 109,635,301 T992A probably benign Het
Smyd2 A G 1: 189,888,882 V213A probably benign Het
Sult1c2 C T 17: 53,831,926 V208M probably damaging Het
Ush2a T C 1: 188,797,845 L3277P probably damaging Het
Wdr72 T C 9: 74,148,774 V304A probably benign Het
Xrra1 T C 7: 99,879,469 probably null Het
Zscan29 C T 2: 121,166,209 A344T probably benign Het
Other mutations in 2310003L06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:2310003L06Rik APN 5 87972790 missense probably benign 0.37
IGL03032:2310003L06Rik APN 5 87971915 missense possibly damaging 0.94
D3080:2310003L06Rik UTSW 5 87971987 missense possibly damaging 0.53
IGL02984:2310003L06Rik UTSW 5 87972803 missense probably damaging 0.97
R0359:2310003L06Rik UTSW 5 87964596 unclassified probably benign
R0676:2310003L06Rik UTSW 5 87964657 unclassified probably benign
R1524:2310003L06Rik UTSW 5 87971689 missense probably benign 0.37
R1536:2310003L06Rik UTSW 5 87970665 missense probably benign
R1998:2310003L06Rik UTSW 5 87970694 missense probably damaging 0.98
R2080:2310003L06Rik UTSW 5 87971933 missense probably damaging 1.00
R2132:2310003L06Rik UTSW 5 87964476 unclassified probably benign
R2177:2310003L06Rik UTSW 5 87972453 missense probably damaging 0.98
R2399:2310003L06Rik UTSW 5 87972479 missense probably damaging 0.98
R3748:2310003L06Rik UTSW 5 87964563 unclassified probably benign
R4010:2310003L06Rik UTSW 5 87972277 missense probably damaging 0.96
R4096:2310003L06Rik UTSW 5 87972149 missense possibly damaging 0.57
R4656:2310003L06Rik UTSW 5 87964675 unclassified probably benign
R4823:2310003L06Rik UTSW 5 87972598 missense probably benign 0.00
R5753:2310003L06Rik UTSW 5 87972515 missense probably damaging 0.99
R6087:2310003L06Rik UTSW 5 87971762 missense possibly damaging 0.94
R6931:2310003L06Rik UTSW 5 87970702 missense probably damaging 0.97
R7032:2310003L06Rik UTSW 5 87972579 missense possibly damaging 0.79
Z1088:2310003L06Rik UTSW 5 87972306 missense probably damaging 0.97
Posted On2014-05-07