Incidental Mutation 'R7674:Ccdc88c'
ID 592390
Institutional Source Beutler Lab
Gene Symbol Ccdc88c
Ensembl Gene ENSMUSG00000021182
Gene Name coiled-coil domain containing 88C
Synonyms Daple, 0610010D24Rik
MMRRC Submission 045744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7674 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 100877782-100995315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100911491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 781 (A781E)
Ref Sequence ENSEMBL: ENSMUSP00000068629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068411] [ENSMUST00000085096] [ENSMUST00000223235]
AlphaFold Q6VGS5
Predicted Effect probably benign
Transcript: ENSMUST00000068411
AA Change: A781E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: A781E

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: A788E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: A788E

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 probably benign
Transcript: ENSMUST00000223235
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (58/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,123 (GRCm39) I607F probably damaging Het
Abcc4 A T 14: 118,848,899 (GRCm39) D559E probably damaging Het
Abl1 T C 2: 31,579,841 (GRCm39) V8A possibly damaging Het
Alkal1 A T 1: 6,459,712 (GRCm39) Y96F probably damaging Het
Asb3 T A 11: 31,031,435 (GRCm39) C352S possibly damaging Het
B4galnt3 G T 6: 120,192,166 (GRCm39) D523E probably benign Het
Cadps C A 14: 12,411,581 (GRCm38) E1258D probably damaging Het
Carmil2 A T 8: 106,423,918 (GRCm39) Q1257L possibly damaging Het
Cars1 A G 7: 143,140,840 (GRCm39) probably null Het
Ccr10 A T 11: 101,065,475 (GRCm39) D18E probably benign Het
Cdcp1 C A 9: 123,045,071 (GRCm39) probably benign Het
Ces5a C A 8: 94,240,897 (GRCm39) R400L probably damaging Het
Clcn6 C T 4: 148,097,151 (GRCm39) V636M probably damaging Het
Cluh T A 11: 74,558,546 (GRCm39) L1206H probably damaging Het
Cog2 C A 8: 125,264,621 (GRCm39) N333K probably damaging Het
Dnah14 A T 1: 181,535,098 (GRCm39) I2355L probably benign Het
Dok4 T C 8: 95,593,190 (GRCm39) Y165C probably damaging Het
Dpy19l3 A C 7: 35,394,734 (GRCm39) D601E probably damaging Het
Egr3 G A 14: 70,315,526 (GRCm39) probably null Het
Elapor1 T G 3: 108,370,307 (GRCm39) R698S probably damaging Het
Elp1 T C 4: 56,792,075 (GRCm39) Q231R probably damaging Het
Evpl T C 11: 116,113,394 (GRCm39) K1432R probably benign Het
Fbxw8 A T 5: 118,263,036 (GRCm39) C214* probably null Het
Gm45861 A C 8: 28,030,147 (GRCm39) Y821S unknown Het
Gm5519 G C 19: 33,802,428 (GRCm39) G157A probably benign Het
Gys1 T C 7: 45,104,495 (GRCm39) S641P probably damaging Het
Ighv6-6 T A 12: 114,398,837 (GRCm39) I10L probably benign Het
Jmy C T 13: 93,579,107 (GRCm39) R675Q probably damaging Het
Kif14 C T 1: 136,396,558 (GRCm39) T288I probably damaging Het
Kpna3 A T 14: 61,605,086 (GRCm39) N520K probably benign Het
Lonp2 A T 8: 87,392,386 (GRCm39) Q484L probably benign Het
Lrp1b T A 2: 42,542,921 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,438,751 (GRCm39) M70L probably benign Het
Msh3 C A 13: 92,349,011 (GRCm39) V1074L probably benign Het
Muc6 A T 7: 141,224,247 (GRCm39) L1645Q unknown Het
Nipbl C T 15: 8,322,585 (GRCm39) V2609I probably benign Het
Nucks1 C A 1: 131,858,844 (GRCm39) T202N probably benign Het
Or10al3 A G 17: 38,011,573 (GRCm39) N4S probably benign Het
Or4c127 A T 2: 89,833,389 (GRCm39) Y213F probably damaging Het
Or4e2 A G 14: 52,687,899 (GRCm39) T10A probably benign Het
Or5m12 A C 2: 85,734,880 (GRCm39) F173V probably damaging Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Plekha2 A G 8: 25,547,314 (GRCm39) S257P probably damaging Het
Pnlip G C 19: 58,663,586 (GRCm39) G187A possibly damaging Het
Pramel22 T A 4: 143,382,175 (GRCm39) K174* probably null Het
Rasgrf2 C T 13: 92,267,914 (GRCm39) S30N possibly damaging Het
Rho G T 6: 115,909,294 (GRCm39) C110F probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc2a12 A G 10: 22,569,893 (GRCm39) D528G probably damaging Het
Sorcs2 G A 5: 36,555,296 (GRCm39) R32C probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Srp72 A T 5: 77,122,673 (GRCm39) N35Y probably damaging Het
Tm2d2 C A 8: 25,508,280 (GRCm39) Y141* probably null Het
Tor3a G A 1: 156,483,478 (GRCm39) H315Y possibly damaging Het
Usp17la A T 7: 104,510,654 (GRCm39) K420* probably null Het
Vmn2r26 T C 6: 124,016,321 (GRCm39) W262R probably benign Het
Yipf7 A T 5: 69,676,572 (GRCm39) V189D probably damaging Het
Zan T A 5: 137,465,370 (GRCm39) M462L possibly damaging Het
Zc3h18 AGG AG 8: 123,110,295 (GRCm39) probably null Het
Zfp930 A T 8: 69,681,337 (GRCm39) H344L probably 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
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
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'- ATGGCGTCCTTAAGCTCCAC -3'
(R):5'- ACCTAGAGCTGCGCAAGATG -3'

Sequencing Primer
(F):5'- AAGCTCCACCTGCTGCC -3'
(R):5'- GCTTCACCAGCGCCAAGATG -3'
Posted On 2019-11-12