Incidental Mutation 'IGL00910:5031439G07Rik'
ID29043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5031439G07Rik
Ensembl Gene ENSMUSG00000036046
Gene NameRIKEN cDNA 5031439G07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL00910
Quality Score
Status
Chromosome15
Chromosomal Location84943936-84988551 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84955819 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 109 (L109P)
Ref Sequence ENSEMBL: ENSMUSP00000037011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047144] [ENSMUST00000165743]
Predicted Effect probably damaging
Transcript: ENSMUST00000047144
AA Change: L109P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: L109P

DomainStartEndE-ValueType
Pfam:DUF2045 25 264 7.4e-123 PFAM
low complexity region 347 362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124308
Predicted Effect probably damaging
Transcript: ENSMUST00000165743
AA Change: L152P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: L152P

DomainStartEndE-ValueType
Pfam:DUF2045 71 305 7.3e-103 PFAM
low complexity region 390 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170863
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,508,708 M316K probably benign Het
Adarb2 T C 13: 8,672,433 V375A probably damaging Het
Adgra2 C A 8: 27,085,983 A13E possibly damaging Het
Ankrd34c A T 9: 89,729,026 S421T probably benign Het
Bpifa6 A T 2: 153,990,466 M298L probably benign Het
Casq2 T C 3: 102,110,231 probably benign Het
Ckap5 A G 2: 91,576,050 T762A probably benign Het
Dhx38 A G 8: 109,559,034 V389A probably benign Het
Dnah7b A T 1: 46,066,729 probably benign Het
Dnajc7 A T 11: 100,599,191 F79L possibly damaging Het
Dyrk3 A G 1: 131,136,336 I3T possibly damaging Het
Fam84a T C 12: 14,150,526 S67G probably benign Het
Fchsd2 T C 7: 101,277,626 I641T probably benign Het
Furin A G 7: 80,390,996 V698A probably benign Het
Prl2c5 G A 13: 13,189,476 probably null Het
Ryr3 A T 2: 112,728,934 probably benign Het
Serpina6 G T 12: 103,651,965 probably benign Het
Slc6a2 A G 8: 92,996,100 Y575C probably damaging Het
Trim9 T C 12: 70,347,113 E19G probably damaging Het
Tsfm G T 10: 127,028,359 probably benign Het
Other mutations in 5031439G07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02752:5031439G07Rik APN 15 84955841 nonsense probably null
R0269:5031439G07Rik UTSW 15 84954000 missense possibly damaging 0.92
R0899:5031439G07Rik UTSW 15 84949258 missense probably damaging 1.00
R1302:5031439G07Rik UTSW 15 84953276 missense probably damaging 1.00
R1442:5031439G07Rik UTSW 15 84955632 splice site probably benign
R1468:5031439G07Rik UTSW 15 84953144 missense probably damaging 1.00
R1468:5031439G07Rik UTSW 15 84953144 missense probably damaging 1.00
R2299:5031439G07Rik UTSW 15 84953285 missense possibly damaging 0.59
R5721:5031439G07Rik UTSW 15 84960597 missense probably damaging 1.00
R5912:5031439G07Rik UTSW 15 84955696 missense possibly damaging 0.84
R5971:5031439G07Rik UTSW 15 84987662 missense possibly damaging 0.65
R6131:5031439G07Rik UTSW 15 84960592 missense probably damaging 1.00
R6981:5031439G07Rik UTSW 15 84949597 nonsense probably null
R7173:5031439G07Rik UTSW 15 84949647 missense possibly damaging 0.93
R7220:5031439G07Rik UTSW 15 84953136 missense probably damaging 1.00
R7554:5031439G07Rik UTSW 15 84955485 missense probably damaging 1.00
R7956:5031439G07Rik UTSW 15 84950762 missense possibly damaging 0.83
R8218:5031439G07Rik UTSW 15 84955467 missense probably damaging 0.99
R8501:5031439G07Rik UTSW 15 84960523 missense probably damaging 1.00
Z1177:5031439G07Rik UTSW 15 84950642 missense possibly damaging 0.52
Posted On2013-04-17