Incidental Mutation 'IGL00325:C130050O18Rik'
ID 5511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130050O18Rik
Ensembl Gene ENSMUSG00000044092
Gene Name RIKEN cDNA C130050O18 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL00325
Quality Score
Status
Chromosome 5
Chromosomal Location 139391035-139401378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139400493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 182 (C182Y)
Ref Sequence ENSEMBL: ENSMUSP00000127769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052176] [ENSMUST00000066052] [ENSMUST00000163940] [ENSMUST00000164078] [ENSMUST00000198474]
AlphaFold Q497Y9
Predicted Effect probably damaging
Transcript: ENSMUST00000052176
AA Change: C182Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055600
Gene: ENSMUSG00000044092
AA Change: C182Y

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
transmembrane domain 100 119 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
transmembrane domain 173 195 N/A INTRINSIC
transmembrane domain 222 244 N/A INTRINSIC
transmembrane domain 259 281 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066052
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 103 165 3e-26 PFAM
low complexity region 184 194 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163940
AA Change: C182Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127769
Gene: ENSMUSG00000044092
AA Change: C182Y

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
transmembrane domain 100 119 N/A INTRINSIC
transmembrane domain 131 153 N/A INTRINSIC
transmembrane domain 173 195 N/A INTRINSIC
transmembrane domain 222 244 N/A INTRINSIC
transmembrane domain 259 281 N/A INTRINSIC
low complexity region 320 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197512
Predicted Effect probably benign
Transcript: ENSMUST00000198474
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,773,517 (GRCm39) S431P possibly damaging Het
Arid1b C A 17: 5,387,385 (GRCm39) R1613S possibly damaging Het
Atxn2l T C 7: 126,097,460 (GRCm39) D196G possibly damaging Het
Bag3 C A 7: 128,148,065 (GRCm39) T560K probably benign Het
BC051076 A G 5: 88,112,354 (GRCm39) probably benign Het
Becn1 A T 11: 101,186,448 (GRCm39) M18K probably benign Het
Cfap43 A G 19: 47,811,627 (GRCm39) probably benign Het
Cfap97 C T 8: 46,623,222 (GRCm39) S204L probably damaging Het
Gaa A G 11: 119,165,786 (GRCm39) T100A probably benign Het
Gab2 C T 7: 96,948,465 (GRCm39) P352S probably damaging Het
Gckr T A 5: 31,465,111 (GRCm39) I360N possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gulo G T 14: 66,243,398 (GRCm39) A40D probably damaging Het
Irs1 T C 1: 82,266,204 (GRCm39) I671V probably benign Het
Itgax T C 7: 127,747,481 (GRCm39) V1028A possibly damaging Het
Lamb3 T C 1: 193,002,755 (GRCm39) C67R probably damaging Het
Mpdz A T 4: 81,235,868 (GRCm39) V1237E probably damaging Het
Nat8 C T 6: 85,807,579 (GRCm39) V185M probably benign Het
Ninj2 A C 6: 120,175,023 (GRCm39) T65P probably benign Het
Nrg2 T C 18: 36,154,271 (GRCm39) M549V probably benign Het
Nwd2 A G 5: 63,962,818 (GRCm39) M801V probably benign Het
Pde8b T C 13: 95,170,875 (GRCm39) D589G probably damaging Het
Ppp1r35 T A 5: 137,777,799 (GRCm39) V155E probably damaging Het
Prss36 T A 7: 127,544,099 (GRCm39) probably benign Het
Raver2 A G 4: 100,960,065 (GRCm39) K182E probably damaging Het
Ring1 T G 17: 34,241,983 (GRCm39) E142A possibly damaging Het
Sidt2 T A 9: 45,853,534 (GRCm39) M689L possibly damaging Het
Slc45a4 A G 15: 73,459,504 (GRCm39) V95A probably damaging Het
Ssc5d T C 7: 4,947,480 (GRCm39) V1278A possibly damaging Het
Stk36 A T 1: 74,673,861 (GRCm39) K1251N possibly damaging Het
Utp14b T A 1: 78,642,262 (GRCm39) S53R probably damaging Het
Vmn2r17 A T 5: 109,575,858 (GRCm39) E243V probably benign Het
Other mutations in C130050O18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:C130050O18Rik APN 5 139,400,601 (GRCm39) missense probably damaging 1.00
IGL03108:C130050O18Rik APN 5 139,400,820 (GRCm39) missense probably damaging 1.00
R0316:C130050O18Rik UTSW 5 139,400,313 (GRCm39) missense probably damaging 1.00
R1635:C130050O18Rik UTSW 5 139,400,248 (GRCm39) missense probably benign 0.02
R4912:C130050O18Rik UTSW 5 139,400,144 (GRCm39) missense probably benign 0.17
R6299:C130050O18Rik UTSW 5 139,400,126 (GRCm39) missense probably damaging 1.00
R7203:C130050O18Rik UTSW 5 139,400,129 (GRCm39) missense probably benign 0.13
R7310:C130050O18Rik UTSW 5 139,400,993 (GRCm39) missense probably benign 0.00
R7990:C130050O18Rik UTSW 5 139,400,672 (GRCm39) missense probably benign 0.05
R9027:C130050O18Rik UTSW 5 139,400,301 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20