Incidental Mutation 'IGL03017:Ccdc187'
ID407934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc187
Ensembl Gene ENSMUSG00000048038
Gene Namecoiled-coil domain containing 187
Synonyms4932418E24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03017
Quality Score
Status
Chromosome2
Chromosomal Location26243469-26294557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26280966 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 500 (Y500C)
Ref Sequence ENSEMBL: ENSMUSP00000054283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]
Predicted Effect probably benign
Transcript: ENSMUST00000057224
AA Change: Y500C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: Y500C

DomainStartEndE-ValueType
low complexity region 116 132 N/A INTRINSIC
low complexity region 536 557 N/A INTRINSIC
coiled coil region 605 632 N/A INTRINSIC
coiled coil region 717 745 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000217256
AA Change: Y500C
Predicted Effect unknown
Transcript: ENSMUST00000227200
AA Change: Y539C
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 C A 3: 87,717,060 Y519* probably null Het
Arhgef26 T A 3: 62,448,281 M758K possibly damaging Het
Cul5 A T 9: 53,644,485 probably null Het
Dnah5 A C 15: 28,340,325 I2293L possibly damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Gpr45 C T 1: 43,032,356 T53M possibly damaging Het
Hoxd3 T A 2: 74,746,706 M310K possibly damaging Het
Mtr A G 13: 12,247,891 probably null Het
Mup4 T A 4: 59,957,890 N171I probably damaging Het
Myo15b T A 11: 115,887,917 I1157N possibly damaging Het
Myo1d C T 11: 80,601,626 V768I probably benign Het
Nlrp4c T C 7: 6,084,680 C771R probably benign Het
Olfr390 C A 11: 73,787,518 H193Q probably benign Het
Patj G A 4: 98,465,027 probably benign Het
Pkp3 C A 7: 141,083,370 A376D probably benign Het
Pkp4 T C 2: 59,266,425 V57A probably benign Het
Poteg A T 8: 27,462,041 K232N probably benign Het
Psat1 G T 19: 15,917,135 A168E possibly damaging Het
Rassf8 T A 6: 145,817,198 probably null Het
Slc37a3 T A 6: 39,349,381 I281L probably benign Het
Sncaip A T 18: 52,894,937 H466L possibly damaging Het
Ttn T C 2: 76,787,116 E16337G probably damaging Het
Ttn T C 2: 76,868,302 T30A possibly damaging Het
Usp13 G A 3: 32,915,712 M662I possibly damaging Het
Vmn2r111 A T 17: 22,570,858 M389K probably damaging Het
Vmn2r39 A C 7: 9,014,941 Y799D probably damaging Het
Other mutations in Ccdc187
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Ccdc187 APN 2 26280948 missense probably benign
IGL02989:Ccdc187 APN 2 26276431 missense possibly damaging 0.92
IGL03059:Ccdc187 APN 2 26294241 missense probably null 1.00
IGL03117:Ccdc187 APN 2 26287968 missense possibly damaging 0.95
R0026:Ccdc187 UTSW 2 26281353 missense probably benign 0.00
R0144:Ccdc187 UTSW 2 26276203 missense probably damaging 0.98
R1078:Ccdc187 UTSW 2 26294377 missense probably damaging 0.98
R1226:Ccdc187 UTSW 2 26276121 missense probably damaging 0.99
R1624:Ccdc187 UTSW 2 26281075 missense probably benign
R1733:Ccdc187 UTSW 2 26293658 missense possibly damaging 0.93
R1851:Ccdc187 UTSW 2 26276068 missense probably benign 0.17
R2304:Ccdc187 UTSW 2 26281017 missense possibly damaging 0.94
R4278:Ccdc187 UTSW 2 26282227 intron probably benign
R4344:Ccdc187 UTSW 2 26280669 missense probably damaging 1.00
R5151:Ccdc187 UTSW 2 26293439 missense probably damaging 1.00
R5416:Ccdc187 UTSW 2 26276092 missense possibly damaging 0.87
R5537:Ccdc187 UTSW 2 26276225 missense probably benign 0.32
R5761:Ccdc187 UTSW 2 26276092 missense possibly damaging 0.87
R5762:Ccdc187 UTSW 2 26276092 missense possibly damaging 0.87
R5865:Ccdc187 UTSW 2 26293368 missense probably benign 0.00
R5925:Ccdc187 UTSW 2 26293581 missense probably benign
R6261:Ccdc187 UTSW 2 26276203 missense probably damaging 0.98
R6803:Ccdc187 UTSW 2 26289779 missense probably benign 0.02
R6888:Ccdc187 UTSW 2 26289734 missense probably damaging 0.98
R6958:Ccdc187 UTSW 2 26289719 missense probably benign
R7006:Ccdc187 UTSW 2 26281090 missense probably benign 0.05
R7358:Ccdc187 UTSW 2 26255995 missense probably damaging 0.97
R7818:Ccdc187 UTSW 2 26276174 missense possibly damaging 0.61
R8048:Ccdc187 UTSW 2 26293514 missense possibly damaging 0.53
Z1176:Ccdc187 UTSW 2 26281507 missense probably benign 0.04
Posted On2016-08-02