Incidental Mutation 'IGL00325:C130050O18Rik'
ID5511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130050O18Rik
Ensembl Gene ENSMUSG00000044092
Gene NameRIKEN cDNA C130050O18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL00325
Quality Score
Status
Chromosome5
Chromosomal Location139405280-139415623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 139414738 bp
ZygosityHeterozygous
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]
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: 69,882,691 S431P possibly damaging Het
Arid1b C A 17: 5,337,110 R1613S possibly damaging Het
Atxn2l T C 7: 126,498,288 D196G possibly damaging Het
Bag3 C A 7: 128,546,341 T560K probably benign Het
BC051076 A G 5: 87,964,495 probably benign Het
Becn1 A T 11: 101,295,622 M18K probably benign Het
Cfap43 A G 19: 47,823,188 probably benign Het
Cfap97 C T 8: 46,170,185 S204L probably damaging Het
Gaa A G 11: 119,274,960 T100A probably benign Het
Gab2 C T 7: 97,299,258 P352S probably damaging Het
Gckr T A 5: 31,307,767 I360N possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gulo G T 14: 66,005,949 A40D probably damaging Het
Irs1 T C 1: 82,288,483 I671V probably benign Het
Itgax T C 7: 128,148,309 V1028A possibly damaging Het
Lamb3 T C 1: 193,320,447 C67R probably damaging Het
Mpdz A T 4: 81,317,631 V1237E probably damaging Het
Nat8 C T 6: 85,830,597 V185M probably benign Het
Ninj2 A C 6: 120,198,062 T65P probably benign Het
Nrg2 T C 18: 36,021,218 M549V probably benign Het
Nwd2 A G 5: 63,805,475 M801V probably benign Het
Pde8b T C 13: 95,034,367 D589G probably damaging Het
Ppp1r35 T A 5: 137,779,537 V155E probably damaging Het
Prss36 T A 7: 127,944,927 probably benign Het
Raver2 A G 4: 101,102,868 K182E probably damaging Het
Ring1 T G 17: 34,023,009 E142A possibly damaging Het
Sidt2 T A 9: 45,942,236 M689L possibly damaging Het
Slc45a4 A G 15: 73,587,655 V95A probably damaging Het
Ssc5d T C 7: 4,944,481 V1278A possibly damaging Het
Stk36 A T 1: 74,634,702 K1251N possibly damaging Het
Utp14b T A 1: 78,664,545 S53R probably damaging Het
Vmn2r17 A T 5: 109,427,992 E243V probably benign Het
Other mutations in C130050O18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:C130050O18Rik APN 5 139414846 missense probably damaging 1.00
IGL03108:C130050O18Rik APN 5 139415065 missense probably damaging 1.00
R0316:C130050O18Rik UTSW 5 139414558 missense probably damaging 1.00
R1635:C130050O18Rik UTSW 5 139414493 missense probably benign 0.02
R4912:C130050O18Rik UTSW 5 139414389 missense probably benign 0.17
R6299:C130050O18Rik UTSW 5 139414371 missense probably damaging 1.00
R7203:C130050O18Rik UTSW 5 139414374 missense probably benign 0.13
R7310:C130050O18Rik UTSW 5 139415238 missense probably benign 0.00
R7990:C130050O18Rik UTSW 5 139414917 missense probably benign 0.05
Posted On2012-04-20