Incidental Mutation 'R2107:Ccdc88c'
ID 232191
Institutional Source Beutler Lab
Gene Symbol Ccdc88c
Ensembl Gene ENSMUSG00000021182
Gene Name coiled-coil domain containing 88C
Synonyms Daple, 0610010D24Rik
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2107 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 100877782-100995315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100887808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1557 (D1557E)
Ref Sequence ENSEMBL: ENSMUSP00000082177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068411] [ENSMUST00000085096]
AlphaFold Q6VGS5
Predicted Effect probably benign
Transcript: ENSMUST00000068411
AA Change: D1550E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: D1550E

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
AA Change: D1557E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: D1557E

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: ENSMUST00000222204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223509
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Fbln5 A G 12: 101,737,528 (GRCm39) W173R probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Lrrk1 C A 7: 65,929,030 (GRCm39) D1201Y probably damaging Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nisch C T 14: 30,894,097 (GRCm39) V172I probably damaging Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Slc34a3 A T 2: 25,120,999 (GRCm39) V363D probably damaging Het
Smap1 A T 1: 23,887,535 (GRCm39) M248K possibly damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I 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
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'- GTGTGTCTCCTACCTGTCAAG -3'
(R):5'- AGAACTGGACCTTGCTGTGG -3'

Sequencing Primer
(F):5'- CCATGATGAAGTACCTGGGCTG -3'
(R):5'- GTTCTGGGCTGAACAAAGGC -3'
Posted On 2014-09-18