Incidental Mutation 'R6164:Ccdc88c'
ID 490065
Institutional Source Beutler Lab
Gene Symbol Ccdc88c
Ensembl Gene ENSMUSG00000021182
Gene Name coiled-coil domain containing 88C
Synonyms Daple, 0610010D24Rik
MMRRC Submission 044310-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6164 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 100877782-100995315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100919642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 416 (M416V)
Ref Sequence ENSEMBL: ENSMUSP00000082177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068411] [ENSMUST00000085096]
AlphaFold Q6VGS5
Predicted Effect probably damaging
Transcript: ENSMUST00000068411
AA Change: M416V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: M416V

DomainStartEndE-ValueType
Pfam:HOOK 7 586 5.9e-37 PFAM
low complexity region 601 613 N/A INTRINSIC
low complexity region 617 634 N/A INTRINSIC
Blast:BRLZ 668 719 3e-8 BLAST
low complexity region 724 744 N/A INTRINSIC
low complexity region 827 837 N/A INTRINSIC
low complexity region 847 866 N/A INTRINSIC
Blast:BRLZ 948 1007 6e-15 BLAST
coiled coil region 1035 1085 N/A INTRINSIC
low complexity region 1095 1110 N/A INTRINSIC
coiled coil region 1129 1252 N/A INTRINSIC
coiled coil region 1312 1384 N/A INTRINSIC
low complexity region 1430 1439 N/A INTRINSIC
low complexity region 1510 1524 N/A INTRINSIC
low complexity region 1562 1583 N/A INTRINSIC
low complexity region 1698 1709 N/A INTRINSIC
internal_repeat_1 1721 1778 6.97e-6 PROSPERO
low complexity region 1788 1808 N/A INTRINSIC
internal_repeat_1 1934 1989 6.97e-6 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000085096
AA Change: M416V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: M416V

DomainStartEndE-ValueType
Pfam:HOOK 13 597 2.5e-41 PFAM
low complexity region 608 620 N/A INTRINSIC
low complexity region 624 641 N/A INTRINSIC
Blast:BRLZ 675 726 3e-8 BLAST
low complexity region 731 751 N/A INTRINSIC
low complexity region 834 844 N/A INTRINSIC
low complexity region 854 873 N/A INTRINSIC
Blast:BRLZ 955 1014 5e-15 BLAST
coiled coil region 1042 1092 N/A INTRINSIC
low complexity region 1102 1117 N/A INTRINSIC
coiled coil region 1136 1259 N/A INTRINSIC
coiled coil region 1319 1391 N/A INTRINSIC
low complexity region 1437 1446 N/A INTRINSIC
low complexity region 1517 1531 N/A INTRINSIC
low complexity region 1569 1590 N/A INTRINSIC
low complexity region 1705 1716 N/A INTRINSIC
internal_repeat_1 1728 1785 6.57e-6 PROSPERO
low complexity region 1795 1815 N/A INTRINSIC
internal_repeat_1 1941 1996 6.57e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180617
Meta Mutation Damage Score 0.1732 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep A G 7: 79,491,953 (GRCm39) I16T possibly damaging Het
Ap1s1 T C 5: 137,066,240 (GRCm39) probably benign Het
Atp1a2 T C 1: 172,106,459 (GRCm39) S848G probably damaging Het
Bche T A 3: 73,608,389 (GRCm39) I346F possibly damaging Het
Ccdc148 T A 2: 58,713,645 (GRCm39) Y502F probably damaging Het
Cdk17 T C 10: 93,071,331 (GRCm39) S351P probably benign Het
Cfap100 T C 6: 90,392,768 (GRCm39) E114G probably benign Het
Clec4a4 T C 6: 122,968,833 (GRCm39) I66T possibly damaging Het
Cpeb4 T C 11: 31,870,584 (GRCm39) probably null Het
Cybrd1 T C 2: 70,948,618 (GRCm39) V52A probably damaging Het
Decr1 G A 4: 15,924,347 (GRCm39) A191V probably benign Het
Dnah5 A T 15: 28,378,489 (GRCm39) I2942L probably benign Het
Ehd4 C T 2: 119,932,689 (GRCm39) V246I possibly damaging Het
Ercc6l2 A G 13: 64,020,158 (GRCm39) probably benign Het
Exoc4 T A 6: 33,309,218 (GRCm39) M280K probably damaging Het
Fmo1 T G 1: 162,678,979 (GRCm39) E89A probably benign Het
Foxm1 A G 6: 128,350,898 (GRCm39) D733G probably benign Het
Garin5b T C 7: 4,773,677 (GRCm39) T73A probably damaging Het
Gulp1 A C 1: 44,793,511 (GRCm39) R57S probably damaging Het
Hdac1-ps T C 17: 78,799,716 (GRCm39) S236P probably damaging Het
Hdac4 G T 1: 91,957,876 (GRCm39) A46E probably benign Het
Hspg2 T C 4: 137,241,966 (GRCm39) S567P possibly damaging Het
Insyn1 C A 9: 58,406,530 (GRCm39) P147T probably damaging Het
Iqgap1 A C 7: 80,458,854 (GRCm39) C21W unknown Het
Isoc2a T C 7: 4,894,488 (GRCm39) L57P probably damaging Het
Krt34 G A 11: 99,929,272 (GRCm39) Q313* probably null Het
Krt6a C T 15: 101,601,008 (GRCm39) V263I probably damaging Het
Man2a1 A G 17: 65,040,719 (GRCm39) I106V possibly damaging Het
Muc16 T C 9: 18,469,675 (GRCm39) D7300G probably damaging Het
Muc5b A T 7: 141,417,082 (GRCm39) S3343C possibly damaging Het
Mup11 C T 4: 60,618,239 (GRCm39) E21K possibly damaging Het
Myo3b T A 2: 70,075,754 (GRCm39) probably null Het
Nlrp4c T C 7: 6,095,507 (GRCm39) L795P probably damaging Het
Nup160 T A 2: 90,548,220 (GRCm39) Y984* probably null Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Or2d3 G T 7: 106,491,135 (GRCm39) Y60* probably null Het
Or5p52 A G 7: 107,502,595 (GRCm39) T224A probably benign Het
Osmr A G 15: 6,889,833 (GRCm39) V5A probably benign Het
Pabir1 T A 19: 24,454,450 (GRCm39) M91L probably benign Het
Pcsk5 A G 19: 17,814,317 (GRCm39) probably null Het
Pex11a G A 7: 79,387,127 (GRCm39) T235M probably damaging Het
Pik3r6 A G 11: 68,442,799 (GRCm39) T730A probably benign Het
Ppp1r9a C T 6: 5,110,715 (GRCm39) probably benign Het
Ppp2r2d T C 7: 138,474,742 (GRCm39) I41T probably damaging Het
Prdm1 C T 10: 44,326,191 (GRCm39) R126H probably damaging Het
Primpol C T 8: 47,039,477 (GRCm39) R381H probably benign Het
Prl7a1 C A 13: 27,821,626 (GRCm39) Q102H probably benign Het
Rbpjl T C 2: 164,252,799 (GRCm39) L284P probably damaging Het
Rgs21 A T 1: 144,417,035 (GRCm39) C6S probably benign Het
Rnasel T C 1: 153,630,138 (GRCm39) V218A probably benign Het
Sag G T 1: 87,752,175 (GRCm39) V223L probably damaging Het
Sdk1 C T 5: 142,117,824 (GRCm39) T1574M probably damaging Het
Secisbp2 G A 13: 51,833,896 (GRCm39) V679M probably damaging Het
Sele T A 1: 163,879,386 (GRCm39) probably null Het
Senp7 T A 16: 55,990,117 (GRCm39) L622M probably damaging Het
Sgo1 G A 17: 53,983,981 (GRCm39) R466C probably damaging Het
Sh3tc1 C A 5: 35,863,590 (GRCm39) V866L probably benign Het
Snrnp25 T A 11: 32,157,647 (GRCm39) V75D probably benign Het
Syne1 C T 10: 5,011,429 (GRCm39) C7899Y probably damaging Het
U2af1l4 T C 7: 30,264,007 (GRCm39) S55P probably damaging Het
Vmn1r23 A G 6: 57,903,040 (GRCm39) I246T possibly damaging Het
Vmn1r66 T A 7: 10,008,329 (GRCm39) R235* probably null Het
Wnk4 C T 11: 101,165,894 (GRCm39) A807V possibly damaging Het
Other mutations in Ccdc88c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Ccdc88c APN 12 100,883,062 (GRCm39) missense probably benign 0.04
IGL02016:Ccdc88c APN 12 100,907,466 (GRCm39) missense possibly damaging 0.63
IGL02031:Ccdc88c APN 12 100,899,570 (GRCm39) missense probably damaging 0.98
IGL02133:Ccdc88c APN 12 100,906,349 (GRCm39) missense probably damaging 1.00
IGL02427:Ccdc88c APN 12 100,887,851 (GRCm39) missense probably damaging 1.00
IGL02494:Ccdc88c APN 12 100,911,734 (GRCm39) missense probably benign
IGL02496:Ccdc88c APN 12 100,919,552 (GRCm39) missense probably benign 0.05
IGL02549:Ccdc88c APN 12 100,895,191 (GRCm39) missense probably benign 0.18
IGL02618:Ccdc88c APN 12 100,879,812 (GRCm39) missense probably benign 0.28
IGL02626:Ccdc88c APN 12 100,934,059 (GRCm39) unclassified probably benign
IGL03142:Ccdc88c APN 12 100,913,457 (GRCm39) missense probably damaging 1.00
BB010:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
BB020:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
R0127:Ccdc88c UTSW 12 100,901,999 (GRCm39) missense possibly damaging 0.88
R0533:Ccdc88c UTSW 12 100,920,541 (GRCm39) missense probably damaging 1.00
R0545:Ccdc88c UTSW 12 100,913,447 (GRCm39) missense probably damaging 1.00
R0866:Ccdc88c UTSW 12 100,879,451 (GRCm39) missense probably benign 0.01
R1230:Ccdc88c UTSW 12 100,914,747 (GRCm39) missense probably benign 0.00
R1434:Ccdc88c UTSW 12 100,905,425 (GRCm39) splice site probably benign
R1614:Ccdc88c UTSW 12 100,879,243 (GRCm39) missense probably benign 0.00
R1644:Ccdc88c UTSW 12 100,879,733 (GRCm39) missense probably damaging 0.98
R1712:Ccdc88c UTSW 12 100,905,284 (GRCm39) missense probably benign 0.14
R2107:Ccdc88c UTSW 12 100,887,808 (GRCm39) missense probably benign
R3612:Ccdc88c UTSW 12 100,905,332 (GRCm39) missense probably damaging 0.99
R3724:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R3737:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R3743:Ccdc88c UTSW 12 100,914,843 (GRCm39) missense probably damaging 1.00
R3772:Ccdc88c UTSW 12 100,932,359 (GRCm39) unclassified probably benign
R3776:Ccdc88c UTSW 12 100,913,438 (GRCm39) missense probably damaging 0.97
R3917:Ccdc88c UTSW 12 100,907,366 (GRCm39) critical splice donor site probably null
R4034:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R4035:Ccdc88c UTSW 12 100,896,783 (GRCm39) missense possibly damaging 0.80
R4110:Ccdc88c UTSW 12 100,911,332 (GRCm39) missense probably damaging 1.00
R4113:Ccdc88c UTSW 12 100,911,332 (GRCm39) missense probably damaging 1.00
R4270:Ccdc88c UTSW 12 100,913,478 (GRCm39) missense probably damaging 1.00
R4271:Ccdc88c UTSW 12 100,913,478 (GRCm39) missense probably damaging 1.00
R4520:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4521:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4522:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4523:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4524:Ccdc88c UTSW 12 100,879,591 (GRCm39) missense possibly damaging 0.48
R4717:Ccdc88c UTSW 12 100,882,925 (GRCm39) missense probably benign 0.00
R4821:Ccdc88c UTSW 12 100,904,338 (GRCm39) missense probably benign 0.00
R4823:Ccdc88c UTSW 12 100,896,802 (GRCm39) missense probably damaging 1.00
R5090:Ccdc88c UTSW 12 100,920,439 (GRCm39) missense probably damaging 1.00
R5510:Ccdc88c UTSW 12 100,911,290 (GRCm39) missense probably damaging 1.00
R5514:Ccdc88c UTSW 12 100,879,698 (GRCm39) missense probably damaging 1.00
R5903:Ccdc88c UTSW 12 100,896,801 (GRCm39) missense probably damaging 1.00
R5999:Ccdc88c UTSW 12 100,934,613 (GRCm39) missense probably damaging 1.00
R6131:Ccdc88c UTSW 12 100,907,387 (GRCm39) missense probably damaging 1.00
R6971:Ccdc88c UTSW 12 100,920,486 (GRCm39) missense probably damaging 1.00
R6998:Ccdc88c UTSW 12 100,883,111 (GRCm39) missense probably damaging 0.96
R7031:Ccdc88c UTSW 12 100,911,323 (GRCm39) missense probably damaging 1.00
R7240:Ccdc88c UTSW 12 100,911,198 (GRCm39) missense probably benign 0.17
R7366:Ccdc88c UTSW 12 100,911,209 (GRCm39) missense possibly damaging 0.89
R7604:Ccdc88c UTSW 12 100,896,806 (GRCm39) missense probably damaging 1.00
R7674:Ccdc88c UTSW 12 100,911,491 (GRCm39) missense probably benign 0.00
R7795:Ccdc88c UTSW 12 100,889,570 (GRCm39) missense probably benign 0.32
R7933:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
R7990:Ccdc88c UTSW 12 100,934,244 (GRCm39) missense probably damaging 1.00
R8339:Ccdc88c UTSW 12 100,907,399 (GRCm39) nonsense probably null
R8734:Ccdc88c UTSW 12 100,906,394 (GRCm39) missense probably damaging 1.00
R8778:Ccdc88c UTSW 12 100,911,483 (GRCm39) missense probably benign 0.25
R8925:Ccdc88c UTSW 12 100,932,676 (GRCm39) missense possibly damaging 0.55
R8927:Ccdc88c UTSW 12 100,932,676 (GRCm39) missense possibly damaging 0.55
R9014:Ccdc88c UTSW 12 100,879,323 (GRCm39) missense probably benign 0.09
R9204:Ccdc88c UTSW 12 100,904,322 (GRCm39) missense unknown
R9257:Ccdc88c UTSW 12 100,889,474 (GRCm39) missense possibly damaging 0.94
R9326:Ccdc88c UTSW 12 100,995,109 (GRCm39) start gained probably benign
R9424:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
R9439:Ccdc88c UTSW 12 100,884,597 (GRCm39) missense probably benign 0.25
R9539:Ccdc88c UTSW 12 100,901,993 (GRCm39) missense possibly damaging 0.89
R9576:Ccdc88c UTSW 12 100,911,749 (GRCm39) missense possibly damaging 0.93
Z1176:Ccdc88c UTSW 12 100,912,029 (GRCm39) missense possibly damaging 0.69
Z1177:Ccdc88c UTSW 12 100,911,414 (GRCm39) missense probably benign
Z1190:Ccdc88c UTSW 12 100,889,591 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAAATGGCACTTGAGGAAATC -3'
(R):5'- GGACTTCCTTCTTGACCTAAGTAG -3'

Sequencing Primer
(F):5'- TTGCTAGGAAGACTCGGAGCC -3'
(R):5'- AGAAATGTTATAGCTCTCTCTCTGTC -3'
Posted On 2017-10-10