Incidental Mutation 'IGL00156:C530025M09Rik'
ID306544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C530025M09Rik
Ensembl Gene ENSMUSG00000074737
Gene NameRIKEN cDNA C530025M09 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00156
Quality Score
Status
Chromosome2
Chromosomal Location149830524-149831213 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 149830726 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099264] [ENSMUST00000109934] [ENSMUST00000109935] [ENSMUST00000137280] [ENSMUST00000140870] [ENSMUST00000144179] [ENSMUST00000149705]
Predicted Effect unknown
Transcript: ENSMUST00000099264
AA Change: R163L
SMART Domains Protein: ENSMUSP00000096870
Gene: ENSMUSG00000074737
AA Change: R163L

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
low complexity region 127 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109934
SMART Domains Protein: ENSMUSP00000105560
Gene: ENSMUSG00000074736

DomainStartEndE-ValueType
Pfam:Dispanin 164 246 5.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109935
SMART Domains Protein: ENSMUSP00000105561
Gene: ENSMUSG00000074736

DomainStartEndE-ValueType
low complexity region 151 171 N/A INTRINSIC
Pfam:CD225 172 244 7.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137280
Predicted Effect probably benign
Transcript: ENSMUST00000140870
Predicted Effect probably benign
Transcript: ENSMUST00000144179
Predicted Effect probably benign
Transcript: ENSMUST00000149705
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,062,704 probably null Het
Adamts19 T A 18: 59,024,465 V943E probably damaging Het
Cep192 T G 18: 67,820,336 W475G probably damaging Het
Col28a1 T C 6: 8,014,795 Y870C probably damaging Het
Cyp2a22 A T 7: 26,937,738 M207K probably benign Het
Dpm1 A G 2: 168,210,575 V247A probably benign Het
Glt1d1 T C 5: 127,632,285 M1T probably null Het
Gm9507 A T 10: 77,811,280 C188* probably null Het
Hectd4 T C 5: 121,363,870 V4222A possibly damaging Het
Igkv3-3 T A 6: 70,687,413 S80T possibly damaging Het
Lrrc49 T C 9: 60,601,320 K520E probably damaging Het
Ltbp1 A T 17: 75,385,160 Y1273F probably damaging Het
Lyst T A 13: 13,648,878 H1478Q probably benign Het
Mre11a A G 9: 14,825,208 D518G probably benign Het
Olfr1243 C T 2: 89,528,207 D68N probably damaging Het
Olfr381 T A 11: 73,486,572 N84I probably benign Het
Olfr859 T C 9: 19,808,396 I26T probably benign Het
Pkd1l1 T A 11: 8,950,515 S9C probably damaging Het
Prrc2b A G 2: 32,208,719 H681R probably damaging Het
Rapgef1 A G 2: 29,722,269 S644G probably benign Het
Sgce T A 6: 4,689,750 H361L probably damaging Het
Specc1 G T 11: 62,118,009 W117L probably benign Het
Srrm4 A G 5: 116,446,557 S485P possibly damaging Het
Traf2 G T 2: 25,520,451 Y395* probably null Het
Trf A G 9: 103,220,957 I34T probably benign Het
Vdac2 T C 14: 21,838,524 Y165H possibly damaging Het
Wwp1 T C 4: 19,650,360 T269A probably benign Het
Other mutations in C530025M09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5470:C530025M09Rik UTSW 2 149831125 intron probably benign
R6076:C530025M09Rik UTSW 2 149830750 unclassified probably benign
Posted On2015-04-16