Incidental Mutation 'IGL00489:Ccdc178'
ID 5730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc178
Ensembl Gene ENSMUSG00000024306
Gene Name coiled coil domain containing 178
Synonyms 4921528I01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00489
Quality Score
Status
Chromosome 18
Chromosomal Location 21943954-22304453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21977968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 833 (I833N)
Ref Sequence ENSEMBL: ENSMUSP00000111503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025160] [ENSMUST00000115837]
AlphaFold Q8CDV0
Predicted Effect probably benign
Transcript: ENSMUST00000025160
AA Change: I833N

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: I833N

DomainStartEndE-ValueType
coiled coil region 157 204 N/A INTRINSIC
coiled coil region 226 266 N/A INTRINSIC
coiled coil region 292 404 N/A INTRINSIC
coiled coil region 514 541 N/A INTRINSIC
coiled coil region 570 631 N/A INTRINSIC
coiled coil region 665 705 N/A INTRINSIC
low complexity region 720 732 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115837
AA Change: I833N

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: I833N

DomainStartEndE-ValueType
coiled coil region 157 204 N/A INTRINSIC
coiled coil region 226 266 N/A INTRINSIC
coiled coil region 292 404 N/A INTRINSIC
coiled coil region 514 541 N/A INTRINSIC
coiled coil region 570 631 N/A INTRINSIC
coiled coil region 665 705 N/A INTRINSIC
low complexity region 720 732 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,316,147 (GRCm39) probably null Het
Alcam T A 16: 52,115,380 (GRCm39) probably benign Het
Aspm C A 1: 139,406,429 (GRCm39) A1772E probably damaging Het
Bag6 T A 17: 35,363,627 (GRCm39) D770E probably damaging Het
Baz2b A T 2: 59,788,019 (GRCm39) Y724* probably null Het
Ccdc28a C A 10: 18,106,261 (GRCm39) V22F possibly damaging Het
Cmya5 T C 13: 93,229,628 (GRCm39) N1820S probably benign Het
Fancm T G 12: 65,152,967 (GRCm39) I1141S probably benign Het
Fgfrl1 G A 5: 108,853,753 (GRCm39) G287S probably damaging Het
Galntl6 G A 8: 58,310,574 (GRCm39) P376S probably damaging Het
Gm21985 A G 2: 112,168,342 (GRCm39) probably benign Het
Hck A G 2: 152,992,939 (GRCm39) E482G possibly damaging Het
Kcna3 C T 3: 106,944,472 (GRCm39) S245L probably benign Het
Mcc T C 18: 44,582,283 (GRCm39) M798V possibly damaging Het
Nlrp9c T C 7: 26,084,013 (GRCm39) Y522C probably benign Het
Ofcc1 C A 13: 40,433,967 (GRCm39) S46I probably damaging Het
Pdgfra A G 5: 75,324,340 (GRCm39) D65G probably benign Het
Phf24 A C 4: 42,933,905 (GRCm39) T59P possibly damaging Het
Pik3cg A G 12: 32,255,148 (GRCm39) Y280H probably damaging Het
Pkd1l1 C A 11: 8,784,773 (GRCm39) probably null Het
Plcd4 C A 1: 74,591,274 (GRCm39) T223N probably damaging Het
Polr1b G A 2: 128,967,829 (GRCm39) G1074D probably damaging Het
Pou2f3 T C 9: 43,040,188 (GRCm39) T367A probably damaging Het
Prkdc T A 16: 15,617,790 (GRCm39) M3207K possibly damaging Het
Rb1cc1 T C 1: 6,319,730 (GRCm39) S1050P probably damaging Het
Sf3b3 G A 8: 111,540,383 (GRCm39) R1013* probably null Het
Svep1 T C 4: 58,068,988 (GRCm39) T2933A possibly damaging Het
Vwf A G 6: 125,635,835 (GRCm39) R289G unknown Het
Zfp263 T C 16: 3,563,710 (GRCm39) S155P probably benign Het
Other mutations in Ccdc178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Ccdc178 APN 18 22,278,501 (GRCm39) splice site probably benign
IGL00906:Ccdc178 APN 18 22,268,225 (GRCm39) nonsense probably null
IGL01352:Ccdc178 APN 18 22,152,031 (GRCm39) splice site probably benign
IGL01553:Ccdc178 APN 18 22,048,063 (GRCm39) missense probably damaging 0.97
IGL01607:Ccdc178 APN 18 22,200,778 (GRCm39) missense probably benign 0.01
IGL01733:Ccdc178 APN 18 22,157,869 (GRCm39) splice site probably benign
IGL01795:Ccdc178 APN 18 22,152,175 (GRCm39) missense probably benign 0.04
IGL01996:Ccdc178 APN 18 22,230,813 (GRCm39) missense probably damaging 0.99
IGL02939:Ccdc178 APN 18 22,253,775 (GRCm39) missense probably benign 0.01
IGL03213:Ccdc178 APN 18 22,253,748 (GRCm39) missense possibly damaging 0.89
IGL03253:Ccdc178 APN 18 21,978,068 (GRCm39) nonsense probably null
IGL03331:Ccdc178 APN 18 21,944,640 (GRCm39) splice site probably null
PIT4520001:Ccdc178 UTSW 18 22,200,470 (GRCm39) missense probably damaging 0.97
R0121:Ccdc178 UTSW 18 21,978,081 (GRCm39) critical splice acceptor site probably null
R0153:Ccdc178 UTSW 18 22,283,492 (GRCm39) missense probably benign 0.00
R0364:Ccdc178 UTSW 18 22,048,119 (GRCm39) missense probably damaging 0.97
R0604:Ccdc178 UTSW 18 22,200,500 (GRCm39) missense probably benign 0.01
R0709:Ccdc178 UTSW 18 22,200,719 (GRCm39) missense probably damaging 0.97
R0961:Ccdc178 UTSW 18 22,152,098 (GRCm39) missense possibly damaging 0.79
R1029:Ccdc178 UTSW 18 22,230,782 (GRCm39) missense possibly damaging 0.89
R1456:Ccdc178 UTSW 18 22,283,481 (GRCm39) missense possibly damaging 0.81
R1481:Ccdc178 UTSW 18 22,238,678 (GRCm39) missense probably benign 0.00
R1596:Ccdc178 UTSW 18 22,153,930 (GRCm39) missense possibly damaging 0.79
R1739:Ccdc178 UTSW 18 22,230,780 (GRCm39) missense possibly damaging 0.92
R1838:Ccdc178 UTSW 18 22,200,695 (GRCm39) missense probably damaging 0.97
R2214:Ccdc178 UTSW 18 22,048,047 (GRCm39) missense possibly damaging 0.73
R2401:Ccdc178 UTSW 18 22,264,471 (GRCm39) critical splice donor site probably null
R2679:Ccdc178 UTSW 18 21,944,613 (GRCm39) missense possibly damaging 0.90
R3051:Ccdc178 UTSW 18 22,268,188 (GRCm39) missense probably benign 0.05
R3150:Ccdc178 UTSW 18 22,200,709 (GRCm39) missense possibly damaging 0.95
R3151:Ccdc178 UTSW 18 21,944,618 (GRCm39) missense probably benign 0.00
R3177:Ccdc178 UTSW 18 22,200,709 (GRCm39) missense possibly damaging 0.95
R3277:Ccdc178 UTSW 18 22,200,709 (GRCm39) missense possibly damaging 0.95
R3903:Ccdc178 UTSW 18 22,156,152 (GRCm39) missense possibly damaging 0.79
R4184:Ccdc178 UTSW 18 22,157,841 (GRCm39) missense probably damaging 1.00
R4258:Ccdc178 UTSW 18 22,150,392 (GRCm39) splice site probably null
R4319:Ccdc178 UTSW 18 22,166,600 (GRCm39) nonsense probably null
R4321:Ccdc178 UTSW 18 22,166,600 (GRCm39) nonsense probably null
R4323:Ccdc178 UTSW 18 22,166,600 (GRCm39) nonsense probably null
R4509:Ccdc178 UTSW 18 22,200,449 (GRCm39) missense possibly damaging 0.94
R4672:Ccdc178 UTSW 18 22,283,501 (GRCm39) nonsense probably null
R5078:Ccdc178 UTSW 18 22,200,685 (GRCm39) critical splice donor site probably null
R5099:Ccdc178 UTSW 18 22,238,648 (GRCm39) missense probably benign
R5679:Ccdc178 UTSW 18 22,200,486 (GRCm39) missense probably benign
R5683:Ccdc178 UTSW 18 22,263,179 (GRCm39) missense probably benign 0.00
R6120:Ccdc178 UTSW 18 22,230,785 (GRCm39) missense probably benign 0.00
R6318:Ccdc178 UTSW 18 22,253,591 (GRCm39) missense possibly damaging 0.90
R6717:Ccdc178 UTSW 18 22,153,946 (GRCm39) missense probably damaging 0.98
R6853:Ccdc178 UTSW 18 22,242,933 (GRCm39) missense probably benign 0.00
R6980:Ccdc178 UTSW 18 22,238,620 (GRCm39) missense probably benign
R7019:Ccdc178 UTSW 18 22,283,495 (GRCm39) missense probably benign 0.00
R7246:Ccdc178 UTSW 18 22,242,811 (GRCm39) missense possibly damaging 0.92
R7322:Ccdc178 UTSW 18 22,238,606 (GRCm39) missense probably benign 0.15
R7340:Ccdc178 UTSW 18 22,150,518 (GRCm39) missense probably benign 0.17
R7371:Ccdc178 UTSW 18 22,263,195 (GRCm39) missense probably benign 0.01
R8003:Ccdc178 UTSW 18 21,977,944 (GRCm39) critical splice donor site probably null
R8371:Ccdc178 UTSW 18 21,944,561 (GRCm39) missense possibly damaging 0.90
R8670:Ccdc178 UTSW 18 22,230,719 (GRCm39) missense possibly damaging 0.89
R8695:Ccdc178 UTSW 18 22,157,809 (GRCm39) missense probably benign 0.02
R8885:Ccdc178 UTSW 18 22,200,721 (GRCm39) missense probably damaging 0.98
R9504:Ccdc178 UTSW 18 22,238,708 (GRCm39) missense possibly damaging 0.89
R9518:Ccdc178 UTSW 18 22,278,516 (GRCm39) missense possibly damaging 0.92
X0063:Ccdc178 UTSW 18 21,977,969 (GRCm39) missense probably benign 0.12
Z1177:Ccdc178 UTSW 18 22,242,788 (GRCm39) missense possibly damaging 0.79
Posted On 2012-04-20