Incidental Mutation 'R1481:Ccdc178'
ID 164410
Institutional Source Beutler Lab
Gene Symbol Ccdc178
Ensembl Gene ENSMUSG00000024306
Gene Name coiled coil domain containing 178
Synonyms 4921528I01Rik
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 21810897-22171396 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22105621 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 313 (G313D)
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: G313D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: G313D

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: G313D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: G313D

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 A G 6: 43,274,634 (GRCm38) H773R probably damaging Het
Bltp1 T C 3: 37,008,434 (GRCm38) V3365A probably damaging Het
Bmp3 G A 5: 98,872,470 (GRCm38) V251M probably damaging Het
Ccdc175 C A 12: 72,101,948 (GRCm38) probably benign Het
Cd300ld2 T A 11: 115,012,633 (GRCm38) I129F probably benign Het
Cep170 T C 1: 176,782,385 (GRCm38) Q120R possibly damaging Het
Ckb T C 12: 111,671,262 (GRCm38) H145R probably benign Het
Cntnap5a T A 1: 116,117,663 (GRCm38) N336K probably damaging Het
Coil T A 11: 88,974,060 (GRCm38) C38S possibly damaging Het
Cps1 T C 1: 67,143,882 (GRCm38) V133A probably damaging Het
Cspg4 A G 9: 56,887,810 (GRCm38) E943G probably damaging Het
Cyp2c54 C T 19: 40,047,588 (GRCm38) D293N probably benign Het
Cyp2f2 T C 7: 27,121,877 (GRCm38) S72P probably benign Het
Dip2c G A 13: 9,551,866 (GRCm38) probably null Het
Dock6 T C 9: 21,820,622 (GRCm38) T1158A probably benign Het
Dscaml1 G A 9: 45,672,643 (GRCm38) V469I probably benign Het
Efcab14 A G 4: 115,756,517 (GRCm38) T221A probably benign Het
Ehbp1 T C 11: 22,006,782 (GRCm38) *1207W probably null Het
Eln T C 5: 134,706,572 (GRCm38) K786E probably damaging Het
Fyb1 C T 15: 6,619,647 (GRCm38) P385S probably benign Het
Galr1 A G 18: 82,405,741 (GRCm38) I137T possibly damaging Het
Gcm1 A T 9: 78,059,717 (GRCm38) K73* probably null Het
Gemin5 T C 11: 58,141,654 (GRCm38) N775D probably damaging Het
Gli3 C T 13: 15,613,850 (GRCm38) H147Y probably damaging Het
Gm10754 G T 10: 97,682,227 (GRCm38) probably benign Het
Gpr37 T C 6: 25,669,138 (GRCm38) D569G probably damaging Het
Grina T A 15: 76,249,089 (GRCm38) Y286N probably damaging Het
Gtf3c1 C A 7: 125,693,138 (GRCm38) probably null Het
Kcnc4 C T 3: 107,448,218 (GRCm38) V305M probably benign Het
Kntc1 T C 5: 123,778,275 (GRCm38) F724L probably benign Het
Kpnb1 T C 11: 97,178,310 (GRCm38) Y249C probably damaging Het
Krt6b T C 15: 101,678,374 (GRCm38) T269A probably benign Het
Lamc1 T C 1: 153,221,634 (GRCm38) K1555E probably damaging Het
Maneal T C 4: 124,861,857 (GRCm38) Y104C probably damaging Het
Map1b T C 13: 99,431,171 (GRCm38) T1681A unknown Het
Mettl17 T C 14: 51,890,703 (GRCm38) L272P probably benign Het
Mib2 T A 4: 155,656,999 (GRCm38) S357C probably benign Het
Mmp19 C A 10: 128,798,178 (GRCm38) T316K possibly damaging Het
Mroh9 C T 1: 163,026,509 (GRCm38) G774E probably damaging Het
Myh1 T C 11: 67,205,499 (GRCm38) probably benign Het
Ncor2 C A 5: 125,027,138 (GRCm38) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm38) T51S probably benign Het
Nsun3 A T 16: 62,735,369 (GRCm38) C265S probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Nutm2 T A 13: 50,469,481 (GRCm38) N71K probably damaging Het
Or10a5 T G 7: 107,036,149 (GRCm38) L5R probably benign Het
Or5p73 C T 7: 108,465,960 (GRCm38) T212I probably benign Het
Orc3 T A 4: 34,607,228 (GRCm38) E34V possibly damaging Het
Pcdhb13 T A 18: 37,442,836 (GRCm38) L89Q probably damaging Het
Polr3a A T 14: 24,452,548 (GRCm38) V1241E probably null Het
Prpf39 C T 12: 65,053,314 (GRCm38) P135S probably damaging Het
Psrc1 T C 3: 108,384,993 (GRCm38) V34A probably benign Het
Rab27a G A 9: 73,082,402 (GRCm38) V52M probably benign Het
Rassf9 A G 10: 102,546,034 (GRCm38) T424A probably benign Het
Ripor3 G T 2: 168,000,377 (GRCm38) R61S possibly damaging Het
Ryr3 C T 2: 112,636,522 (GRCm38) probably benign Het
Samd4b C T 7: 28,414,010 (GRCm38) G177R probably damaging Het
Setbp1 C T 18: 78,783,301 (GRCm38) V1366M probably benign Het
Smad1 G A 8: 79,343,730 (GRCm38) A393V probably benign Het
Tctn2 T C 5: 124,607,763 (GRCm38) noncoding transcript Het
Tmem45a A T 16: 56,811,602 (GRCm38) F218I possibly damaging Het
Tpte A T 8: 22,355,471 (GRCm38) R512S probably damaging Het
Trim37 T A 11: 87,129,759 (GRCm38) L22* probably null Het
Ttc6 A G 12: 57,737,130 (GRCm38) N1792D probably damaging Het
Ttn A G 2: 76,945,616 (GRCm38) M1694T probably damaging Het
Vmn1r181 T A 7: 23,984,712 (GRCm38) W201R probably damaging Het
Wdr74 C T 19: 8,738,228 (GRCm38) L198F possibly damaging Het
Zfp560 T C 9: 20,348,790 (GRCm38) T259A probably benign Het
Other mutations in Ccdc178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Ccdc178 APN 18 21,844,911 (GRCm38) missense probably benign 0.05
IGL00743:Ccdc178 APN 18 22,145,444 (GRCm38) splice site probably benign
IGL00906:Ccdc178 APN 18 22,135,168 (GRCm38) nonsense probably null
IGL01352:Ccdc178 APN 18 22,018,974 (GRCm38) splice site probably benign
IGL01553:Ccdc178 APN 18 21,915,006 (GRCm38) missense probably damaging 0.97
IGL01607:Ccdc178 APN 18 22,067,721 (GRCm38) missense probably benign 0.01
IGL01733:Ccdc178 APN 18 22,024,812 (GRCm38) splice site probably benign
IGL01795:Ccdc178 APN 18 22,019,118 (GRCm38) missense probably benign 0.04
IGL01996:Ccdc178 APN 18 22,097,756 (GRCm38) missense probably damaging 0.99
IGL02939:Ccdc178 APN 18 22,120,718 (GRCm38) missense probably benign 0.01
IGL03213:Ccdc178 APN 18 22,120,691 (GRCm38) missense possibly damaging 0.89
IGL03253:Ccdc178 APN 18 21,845,011 (GRCm38) nonsense probably null
IGL03331:Ccdc178 APN 18 21,811,583 (GRCm38) splice site probably null
PIT4520001:Ccdc178 UTSW 18 22,067,413 (GRCm38) missense probably damaging 0.97
R0121:Ccdc178 UTSW 18 21,845,024 (GRCm38) critical splice acceptor site probably null
R0153:Ccdc178 UTSW 18 22,150,435 (GRCm38) missense probably benign 0.00
R0364:Ccdc178 UTSW 18 21,915,062 (GRCm38) missense probably damaging 0.97
R0604:Ccdc178 UTSW 18 22,067,443 (GRCm38) missense probably benign 0.01
R0709:Ccdc178 UTSW 18 22,067,662 (GRCm38) missense probably damaging 0.97
R0961:Ccdc178 UTSW 18 22,019,041 (GRCm38) missense possibly damaging 0.79
R1029:Ccdc178 UTSW 18 22,097,725 (GRCm38) missense possibly damaging 0.89
R1456:Ccdc178 UTSW 18 22,150,424 (GRCm38) missense possibly damaging 0.81
R1596:Ccdc178 UTSW 18 22,020,873 (GRCm38) missense possibly damaging 0.79
R1739:Ccdc178 UTSW 18 22,097,723 (GRCm38) missense possibly damaging 0.92
R1838:Ccdc178 UTSW 18 22,067,638 (GRCm38) missense probably damaging 0.97
R2214:Ccdc178 UTSW 18 21,914,990 (GRCm38) missense possibly damaging 0.73
R2401:Ccdc178 UTSW 18 22,131,414 (GRCm38) critical splice donor site probably null
R2679:Ccdc178 UTSW 18 21,811,556 (GRCm38) missense possibly damaging 0.90
R3051:Ccdc178 UTSW 18 22,135,131 (GRCm38) missense probably benign 0.05
R3150:Ccdc178 UTSW 18 22,067,652 (GRCm38) missense possibly damaging 0.95
R3151:Ccdc178 UTSW 18 21,811,561 (GRCm38) missense probably benign 0.00
R3177:Ccdc178 UTSW 18 22,067,652 (GRCm38) missense possibly damaging 0.95
R3277:Ccdc178 UTSW 18 22,067,652 (GRCm38) missense possibly damaging 0.95
R3903:Ccdc178 UTSW 18 22,023,095 (GRCm38) missense possibly damaging 0.79
R4184:Ccdc178 UTSW 18 22,024,784 (GRCm38) missense probably damaging 1.00
R4258:Ccdc178 UTSW 18 22,017,335 (GRCm38) splice site probably null
R4319:Ccdc178 UTSW 18 22,033,543 (GRCm38) nonsense probably null
R4321:Ccdc178 UTSW 18 22,033,543 (GRCm38) nonsense probably null
R4323:Ccdc178 UTSW 18 22,033,543 (GRCm38) nonsense probably null
R4509:Ccdc178 UTSW 18 22,067,392 (GRCm38) missense possibly damaging 0.94
R4672:Ccdc178 UTSW 18 22,150,444 (GRCm38) nonsense probably null
R5078:Ccdc178 UTSW 18 22,067,628 (GRCm38) critical splice donor site probably null
R5099:Ccdc178 UTSW 18 22,105,591 (GRCm38) missense probably benign
R5679:Ccdc178 UTSW 18 22,067,429 (GRCm38) missense probably benign
R5683:Ccdc178 UTSW 18 22,130,122 (GRCm38) missense probably benign 0.00
R6120:Ccdc178 UTSW 18 22,097,728 (GRCm38) missense probably benign 0.00
R6318:Ccdc178 UTSW 18 22,120,534 (GRCm38) missense possibly damaging 0.90
R6717:Ccdc178 UTSW 18 22,020,889 (GRCm38) missense probably damaging 0.98
R6853:Ccdc178 UTSW 18 22,109,876 (GRCm38) missense probably benign 0.00
R6980:Ccdc178 UTSW 18 22,105,563 (GRCm38) missense probably benign
R7019:Ccdc178 UTSW 18 22,150,438 (GRCm38) missense probably benign 0.00
R7246:Ccdc178 UTSW 18 22,109,754 (GRCm38) missense possibly damaging 0.92
R7322:Ccdc178 UTSW 18 22,105,549 (GRCm38) missense probably benign 0.15
R7340:Ccdc178 UTSW 18 22,017,461 (GRCm38) missense probably benign 0.17
R7371:Ccdc178 UTSW 18 22,130,138 (GRCm38) missense probably benign 0.01
R8003:Ccdc178 UTSW 18 21,844,887 (GRCm38) critical splice donor site probably null
R8371:Ccdc178 UTSW 18 21,811,504 (GRCm38) missense possibly damaging 0.90
R8670:Ccdc178 UTSW 18 22,097,662 (GRCm38) missense possibly damaging 0.89
R8695:Ccdc178 UTSW 18 22,024,752 (GRCm38) missense probably benign 0.02
R8885:Ccdc178 UTSW 18 22,067,664 (GRCm38) missense probably damaging 0.98
R9504:Ccdc178 UTSW 18 22,105,651 (GRCm38) missense possibly damaging 0.89
R9518:Ccdc178 UTSW 18 22,145,459 (GRCm38) missense possibly damaging 0.92
X0063:Ccdc178 UTSW 18 21,844,912 (GRCm38) missense probably benign 0.12
Z1177:Ccdc178 UTSW 18 22,109,731 (GRCm38) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- CTTCAGGCGACAGGGAGATACATTG -3'
(R):5'- AGGAAGACAGAACCCTATTCCCTTAGC -3'

Sequencing Primer
(F):5'- CAGGGAGATACATTGCTTTTATGCC -3'
(R):5'- TCCCTTAGCTGTACACATTTAGAG -3'
Posted On 2014-03-28