Incidental Mutation 'IGL01553:Ccdc178'
ID 90648
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 # IGL01553
Quality Score
Status
Chromosome 18
Chromosomal Location 21943954-22304453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22048063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 776 (Y776H)
Ref Sequence ENSEMBL: ENSMUSP00000111503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025160] [ENSMUST00000115837]
AlphaFold Q8CDV0
Predicted Effect probably damaging
Transcript: ENSMUST00000025160
AA Change: Y776H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: Y776H

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 damaging
Transcript: ENSMUST00000115837
AA Change: Y776H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: Y776H

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 T A 13: 4,244,774 (GRCm39) H117Q probably damaging Het
Arhgap44 T C 11: 64,943,944 (GRCm39) N188S probably damaging Het
Bach1 T A 16: 87,519,393 (GRCm39) I561N probably damaging Het
Bsph2 G T 7: 13,290,645 (GRCm39) T78K probably damaging Het
Ccdc7a T C 8: 129,753,072 (GRCm39) probably benign Het
Cenpp C T 13: 49,618,252 (GRCm39) V218M probably damaging Het
Dnmt3l A G 10: 77,899,082 (GRCm39) S94G probably benign Het
Dock7 A T 4: 98,833,803 (GRCm39) Y1839* probably null Het
Gabra6 T A 11: 42,206,023 (GRCm39) T278S probably damaging Het
Galnt11 G A 5: 25,452,718 (GRCm39) D77N probably benign Het
Gm17175 T C 14: 51,808,279 (GRCm39) D171G probably benign Het
Iqch T C 9: 63,408,199 (GRCm39) N655S probably benign Het
Kdm1b T A 13: 47,234,024 (GRCm39) I786N probably damaging Het
Macf1 G A 4: 123,386,956 (GRCm39) Q976* probably null Het
Mbtd1 T A 11: 93,814,040 (GRCm39) C228S probably benign Het
Myo10 T C 15: 25,776,415 (GRCm39) L46P probably damaging Het
Niban3 G T 8: 72,055,546 (GRCm39) A319S possibly damaging Het
Nup133 A G 8: 124,642,063 (GRCm39) V800A possibly damaging Het
Or5h23 G T 16: 58,906,685 (GRCm39) H54N probably benign Het
Prkca C T 11: 107,948,660 (GRCm39) G110R probably benign Het
Samd9l A T 6: 3,375,566 (GRCm39) M565K probably damaging Het
Scgn T C 13: 24,143,662 (GRCm39) Q77R probably benign Het
Serpinb6b T C 13: 33,158,931 (GRCm39) L44P probably damaging Het
Tfrc T C 16: 32,447,403 (GRCm39) V673A probably benign Het
Tsfm G A 10: 126,864,259 (GRCm39) T152M probably benign Het
Wdfy3 A T 5: 102,047,897 (GRCm39) C1803S probably benign Het
Other mutations in Ccdc178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Ccdc178 APN 18 21,977,968 (GRCm39) missense probably benign 0.05
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
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 2013-12-09