Incidental Mutation 'IGL00156:C530025M09Rik'
ID 306544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C530025M09Rik
Ensembl Gene ENSMUSG00000074737
Gene Name RIKEN cDNA C530025M09 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL00156
Quality Score
Status
Chromosome 2
Chromosomal Location 149670259-149673562 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 149672646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099264] [ENSMUST00000109934] [ENSMUST00000109935] [ENSMUST00000137280] [ENSMUST00000140870] [ENSMUST00000144179] [ENSMUST00000149705]
AlphaFold no structure available at present
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: 121,856,353 (GRCm39) probably null Het
Adamts19 T A 18: 59,157,537 (GRCm39) V943E probably damaging Het
Cep192 T G 18: 67,953,407 (GRCm39) W475G probably damaging Het
Col28a1 T C 6: 8,014,795 (GRCm39) Y870C probably damaging Het
Cyp2a22 A T 7: 26,637,163 (GRCm39) M207K probably benign Het
Dpm1 A G 2: 168,052,495 (GRCm39) V247A probably benign Het
Glt1d1 T C 5: 127,709,349 (GRCm39) M1T probably null Het
Gm9507 A T 10: 77,647,114 (GRCm39) C188* probably null Het
Hectd4 T C 5: 121,501,933 (GRCm39) V4222A possibly damaging Het
Igkv3-3 T A 6: 70,664,397 (GRCm39) S80T possibly damaging Het
Lrrc49 T C 9: 60,508,603 (GRCm39) K520E probably damaging Het
Ltbp1 A T 17: 75,692,155 (GRCm39) Y1273F probably damaging Het
Lyst T A 13: 13,823,463 (GRCm39) H1478Q probably benign Het
Mre11a A G 9: 14,736,504 (GRCm39) D518G probably benign Het
Or1e22 T A 11: 73,377,398 (GRCm39) N84I probably benign Het
Or4a71 C T 2: 89,358,551 (GRCm39) D68N probably damaging Het
Or7e168 T C 9: 19,719,692 (GRCm39) I26T probably benign Het
Pkd1l1 T A 11: 8,900,515 (GRCm39) S9C probably damaging Het
Prrc2b A G 2: 32,098,731 (GRCm39) H681R probably damaging Het
Rapgef1 A G 2: 29,612,281 (GRCm39) S644G probably benign Het
Sgce T A 6: 4,689,750 (GRCm39) H361L probably damaging Het
Specc1 G T 11: 62,008,835 (GRCm39) W117L probably benign Het
Srrm4 A G 5: 116,584,616 (GRCm39) S485P possibly damaging Het
Traf2 G T 2: 25,410,463 (GRCm39) Y395* probably null Het
Trf A G 9: 103,098,156 (GRCm39) I34T probably benign Het
Vdac2 T C 14: 21,888,592 (GRCm39) Y165H possibly damaging Het
Wwp1 T C 4: 19,650,360 (GRCm39) T269A probably benign Het
Other mutations in C530025M09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5470:C530025M09Rik UTSW 2 149,673,045 (GRCm39) intron probably benign
R6076:C530025M09Rik UTSW 2 149,672,670 (GRCm39) unclassified probably benign
R7657:C530025M09Rik UTSW 2 149,672,541 (GRCm39) missense unknown
R7659:C530025M09Rik UTSW 2 149,672,539 (GRCm39) missense unknown
R7967:C530025M09Rik UTSW 2 149,672,974 (GRCm39) missense unknown
R9382:C530025M09Rik UTSW 2 149,672,640 (GRCm39) missense unknown
Posted On 2015-04-16