Incidental Mutation 'R1434:Ccdc88c'
ID 159402
Institutional Source Beutler Lab
Gene Symbol Ccdc88c
Ensembl Gene ENSMUSG00000021182
Gene Name coiled-coil domain containing 88C
Synonyms Daple, 0610010D24Rik
MMRRC Submission 039489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1434 (G1)
Quality Score 190
Status Validated
Chromosome 12
Chromosomal Location 100877782-100995315 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 100905425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068411] [ENSMUST00000085096] [ENSMUST00000223235]
AlphaFold Q6VGS5
Predicted Effect probably benign
Transcript: ENSMUST00000068411
SMART Domains Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182

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 benign
Transcript: ENSMUST00000085096
SMART Domains Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221309
Predicted Effect probably benign
Transcript: ENSMUST00000223235
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,348,959 (GRCm39) H851N probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Ankhd1 A G 18: 36,758,212 (GRCm39) I969V probably benign Het
Apob A G 12: 8,059,715 (GRCm39) I2699M probably damaging Het
Aqr A T 2: 113,980,890 (GRCm39) L297Q probably damaging Het
Arb2a A T 13: 77,910,041 (GRCm39) Y98F probably damaging Het
Camsap1 A G 2: 25,835,190 (GRCm39) Y301H probably damaging Het
Cd209b T A 8: 3,973,367 (GRCm39) I106F possibly damaging Het
Cdkn1b T A 6: 134,898,060 (GRCm39) W60R probably damaging Het
Coasy A G 11: 100,975,822 (GRCm39) probably benign Het
Col2a1 T A 15: 97,877,532 (GRCm39) Q1017L probably damaging Het
Cspg4b G A 13: 113,505,026 (GRCm39) V510I possibly damaging Het
Ctnnal1 T A 4: 56,847,971 (GRCm39) N56I probably damaging Het
Cyb561d2 T A 9: 107,418,842 (GRCm39) probably benign Het
Dcst1 G T 3: 89,259,826 (GRCm39) T632N probably damaging Het
Ddx1 C T 12: 13,287,232 (GRCm39) V267I probably benign Het
Dnah10 A T 5: 124,852,050 (GRCm39) M1736L probably benign Het
Eln G A 5: 134,758,291 (GRCm39) probably benign Het
Elp1 T A 4: 56,781,193 (GRCm39) E493D probably benign Het
Enpp2 A T 15: 54,726,077 (GRCm39) D566E probably damaging Het
Ezh1 T C 11: 101,085,743 (GRCm39) K638R probably damaging Het
Fdx2 C A 9: 20,984,694 (GRCm39) G37W probably benign Het
Grin2b T C 6: 135,820,193 (GRCm39) I340V probably benign Het
Il16 T C 7: 83,304,520 (GRCm39) T671A probably benign Het
Kcnd2 T A 6: 21,216,356 (GRCm39) M20K probably damaging Het
Kndc1 C T 7: 139,502,600 (GRCm39) S962F probably damaging Het
L1td1 A G 4: 98,626,054 (GRCm39) S750G possibly damaging Het
Lama2 A G 10: 27,084,366 (GRCm39) C935R probably damaging Het
Lgalsl T C 11: 20,776,418 (GRCm39) D158G possibly damaging Het
Lman1 A T 18: 66,126,144 (GRCm39) probably null Het
Lmtk2 A G 5: 144,111,407 (GRCm39) E709G probably damaging Het
Lrfn3 T C 7: 30,055,352 (GRCm39) H531R possibly damaging Het
Mark3 A G 12: 111,589,759 (GRCm39) probably benign Het
Mov10 T C 3: 104,702,490 (GRCm39) E997G probably damaging Het
Myo15a T A 11: 60,395,157 (GRCm39) W2484R probably benign Het
Myo1g G T 11: 6,459,372 (GRCm39) Q833K probably benign Het
Ncoa3 T A 2: 165,897,430 (GRCm39) D740E probably benign Het
Nol12 A G 15: 78,822,153 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,493,642 (GRCm39) probably null Het
Nsfl1c A C 2: 151,342,666 (GRCm39) I79L probably benign Het
Or52b2 T C 7: 104,986,468 (GRCm39) I152V probably benign Het
Or5b108 A G 19: 13,168,662 (GRCm39) I210M probably benign Het
Or5k1 G T 16: 58,617,811 (GRCm39) H133N probably benign Het
Osbpl8 A C 10: 111,127,442 (GRCm39) E842A probably benign Het
Pdxk G T 10: 78,276,645 (GRCm39) T310K probably benign Het
Phip T G 9: 82,841,658 (GRCm39) K54Q probably damaging Het
Pklr A T 3: 89,050,342 (GRCm39) D366V probably damaging Het
Plxna2 T A 1: 194,433,848 (GRCm39) probably benign Het
Ppp4r3a A T 12: 101,009,783 (GRCm39) V618E probably damaging Het
Prdm12 A T 2: 31,530,319 (GRCm39) Q70L possibly damaging Het
Ptgr3 A G 18: 84,112,596 (GRCm39) K91E probably benign Het
Ptpn21 A T 12: 98,654,849 (GRCm39) M706K probably damaging Het
Ptprq A T 10: 107,422,575 (GRCm39) F1606I probably damaging Het
Rasgrp4 T C 7: 28,837,152 (GRCm39) probably null Het
Rlbp1 C A 7: 79,029,661 (GRCm39) probably null Het
Rtp2 T C 16: 23,746,193 (GRCm39) D166G probably benign Het
Ryr3 A C 2: 112,475,604 (GRCm39) F4481V probably damaging Het
Scn2a A G 2: 65,532,335 (GRCm39) D649G possibly damaging Het
Slc30a5 T A 13: 100,939,950 (GRCm39) D655V probably damaging Het
Slco5a1 G A 1: 12,942,132 (GRCm39) A838V probably benign Het
Spata6l G T 19: 28,905,039 (GRCm39) probably benign Het
Srprb A G 9: 103,067,501 (GRCm39) V239A probably damaging Het
Tceanc2 T C 4: 107,004,837 (GRCm39) T104A probably benign Het
Tcp1 T C 17: 13,141,493 (GRCm39) probably null Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr19 G A 5: 65,380,847 (GRCm39) probably benign Het
Zfhx4 T A 3: 5,306,919 (GRCm39) H48Q probably benign Het
Zfp787 T A 7: 6,135,234 (GRCm39) H339L probably damaging Het
Zfp839 G T 12: 110,827,333 (GRCm39) R408L probably benign 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
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
R6164:Ccdc88c UTSW 12 100,919,642 (GRCm39) missense probably damaging 0.98
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'- TCTTAGCAACCAGCCTGTCTCCAG -3'
(R):5'- AAGGGACTCATGTAAGTGGCATTCG -3'

Sequencing Primer
(F):5'- AGGCACCATTAGCGTCCTG -3'
(R):5'- AAGTGGCATTCGTGCCTG -3'
Posted On 2014-03-14