Incidental Mutation 'D3080:2310003L06Rik'
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ID118
Institutional Source Beutler Lab
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: 0.050) question?
Stock #D3080 of strain grasshopper
Quality Score
Status Validated
Chromosome5
Chromosomal Location87969459-87972870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 87971987 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 201 (P201Q)
Ref Sequence ENSEMBL: ENSMUSP00000007601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007601
AA Change: P201Q

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: P201Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 88.9%
  • 3x: 76.7%
Validation Efficiency 82% (141/173)
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdp1 A T 13: 100,023,621 S2417R probably benign Het
Dscaml1 A T 9: 45,684,325 H783L probably benign Het
Fbxl5 A T 5: 43,758,366 M568K probably benign Het
Gab1 T A 8: 80,766,378 D710V probably damaging Homo
Gabrr2 T C 4: 33,084,466 F128S probably damaging Het
Gm8251 C A 1: 44,067,335 Het
Hyou1 T A 9: 44,384,477 V343E probably damaging Het
Nlrp4a A G 7: 26,444,341 T44A probably benign Het
Nsd3 C A 8: 25,713,545 T1362N possibly damaging Homo
Olfr523 G A 7: 140,176,362 V81M possibly damaging Het
Pcm1 T A 8: 41,275,939 N649K probably damaging Homo
Pde4dip T C 3: 97,766,830 K257E probably damaging Het
Pfpl G A 19: 12,428,832 R149Q probably damaging Homo
Pou2f2 G T 7: 25,097,133 probably benign Het
Rptn A G 3: 93,395,828 D156G possibly damaging Het
Sec31a T C 5: 100,363,832 D1107G probably damaging Het
Smyd3 A G 1: 179,086,422 Y239H probably damaging Het
Stoml3 T C 3: 53,497,994 F32S probably benign Het
Tnnc1 C A 14: 31,210,190 D62E probably damaging Homo
Vsig10 C T 5: 117,343,819 A358V probably damaging Het
Other mutations in 2310003L06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:2310003L06Rik APN 5 87972790 missense probably benign 0.37
IGL01938:2310003L06Rik APN 5 87971708 missense probably damaging 0.99
IGL03032:2310003L06Rik APN 5 87971915 missense possibly damaging 0.94
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
Z1088:2310003L06Rik UTSW 5 87972306 missense probably damaging 0.97
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to A transversion at position 720 of the 2310003L06Rik transcript. The mutated nucleotide causes a proline to glutamine substitution at amino acid 201 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The 2310003L06Rik gene encodes a 495 amino acid putative uncharacterized protein with evidence at the transcript level (Uniprot Q9CV82). Analysis using the SMART program identifies a signal peptide at amino acids 1-22.   
 
The P201Q change is predicted to be benign by the PolyPhen program.
Posted On2010-03-11