Incidental Mutation 'R8003:Ccdc178'
ID 616482
Institutional Source Beutler Lab
Gene Symbol Ccdc178
Ensembl Gene ENSMUSG00000024306
Gene Name coiled coil domain containing 178
Synonyms 4921528I01Rik
MMRRC Submission 046043-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8003 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 21943954-22304453 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 21977944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025160] [ENSMUST00000115837]
AlphaFold Q8CDV0
Predicted Effect probably null
Transcript: ENSMUST00000025160
SMART Domains Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306

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
SMART Domains Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306

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
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 56,019,092 (GRCm39) V155A probably benign Het
Arfgef2 A G 2: 166,695,208 (GRCm39) Y527C probably damaging Het
Brca1 C T 11: 101,415,303 (GRCm39) G944R probably benign Het
C2cd2 A G 16: 97,687,286 (GRCm39) probably null Het
Cass4 T C 2: 172,269,879 (GRCm39) F654L unknown Het
Cct4 T C 11: 22,946,040 (GRCm39) probably null Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Col5a1 G A 2: 27,848,340 (GRCm39) probably benign Het
Col6a3 G T 1: 90,703,455 (GRCm39) N3037K unknown Het
Csmd2 T A 4: 128,432,980 (GRCm39) C3012* probably null Het
Dclk2 T C 3: 86,700,608 (GRCm39) probably null Het
Dhx38 A T 8: 110,282,772 (GRCm39) D631E probably damaging Het
Eif2ak2 C A 17: 79,183,652 (GRCm39) A66S probably damaging Het
Ephx2 A G 14: 66,361,782 (GRCm39) probably null Het
Fbxw10 T G 11: 62,748,587 (GRCm39) C405G possibly damaging Het
Galnt13 G T 2: 54,950,497 (GRCm39) G393* probably null Het
Gm5591 G T 7: 38,219,183 (GRCm39) H563Q probably damaging Het
Gtf3c5 A G 2: 28,459,373 (GRCm39) I394T probably benign Het
Hectd4 G A 5: 121,477,581 (GRCm39) A2835T possibly damaging Het
Herc2 A G 7: 55,818,652 (GRCm39) D2781G possibly damaging Het
Kmt2b G T 7: 30,268,802 (GRCm39) H2642Q probably damaging Het
Lars1 A T 18: 42,354,684 (GRCm39) D754E probably damaging Het
Lrpprc A C 17: 85,059,745 (GRCm39) S690A probably benign Het
Map3k6 A G 4: 132,976,193 (GRCm39) T805A probably benign Het
Mthfd1l T G 10: 3,934,147 (GRCm39) S160A probably benign Het
Mtmr6 G A 14: 60,519,544 (GRCm39) probably null Het
Mybpc2 A T 7: 44,158,488 (GRCm39) M698K probably damaging Het
Myh8 T A 11: 67,190,586 (GRCm39) L1304M probably damaging Het
Mylip T A 13: 45,557,947 (GRCm39) V117E probably benign Het
Npc1l1 T C 11: 6,165,129 (GRCm39) Q1061R probably benign Het
Or12e13 A G 2: 87,664,081 (GRCm39) R233G probably benign Het
Or5d37 A T 2: 87,923,589 (GRCm39) Y230* probably null Het
Pkd2l2 G A 18: 34,561,232 (GRCm39) M413I probably damaging Het
Plch2 C T 4: 155,138,980 (GRCm39) G19D unknown Het
Pramel17 T C 4: 101,693,130 (GRCm39) K290R probably benign Het
Psg22 A C 7: 18,458,350 (GRCm39) Y347S probably damaging Het
Ptpre C A 7: 135,270,765 (GRCm39) Q314K probably damaging Het
Rgs6 T C 12: 83,032,144 (GRCm39) S54P probably damaging Het
Sbds C A 5: 130,279,726 (GRCm39) V130F possibly damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc24a2 A T 4: 87,094,552 (GRCm39) D322E probably benign Het
Slc45a4 G T 15: 73,457,162 (GRCm39) Y585* probably null Het
Slc7a4 A C 16: 17,392,315 (GRCm39) V373G possibly damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Syt1 T C 10: 108,472,434 (GRCm39) D150G probably damaging Het
Tnpo3 C A 6: 29,551,900 (GRCm39) V888F probably benign Het
Trim9 T C 12: 70,393,608 (GRCm39) H112R probably benign Het
Vmn2r80 T C 10: 78,984,711 (GRCm39) I21T probably benign Het
Wdr41 C A 13: 95,149,654 (GRCm39) A286E possibly damaging Het
Wnt8b T A 19: 44,500,396 (GRCm39) C328S probably damaging Het
Ybx3 A T 6: 131,345,400 (GRCm39) Y324* probably null Het
Zmynd15 T A 11: 70,351,767 (GRCm39) H124Q 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCAAAGTATGCATGGTGTG -3'
(R):5'- ATCATTCTTCTTGAACGGTGCC -3'

Sequencing Primer
(F):5'- CCAAAGTATGCATGGTGTGTGGTATG -3'
(R):5'- TGAACGGTGCCATTAATTTCC -3'
Posted On 2020-01-23