Mutagenetix > Incidental Mutation

Incidental Mutation 'R4524:Ccdc88c'

334376

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88c

Ensembl Gene

ENSMUSG00000021182

Gene Name

coiled-coil domain containing 88C

Synonyms

Daple, 0610010D24Rik

MMRRC Submission

041766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100877782-100995315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100879591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1843 (S1843R)

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: S1836R

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: S1836R

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000085096
AA Change: S1843R

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: S1843R

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,342,076 (GRCm39)	S962G	probably benign	Het
Ackr2	T	C	9: 121,738,609 (GRCm39)	V328A	probably benign	Het
Ang4	G	T	14: 52,001,605 (GRCm39)	C114*	probably null	Het
Arid1b	A	T	17: 5,147,895 (GRCm39)	Q599L	possibly damaging	Het
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Atrnl1	A	G	19: 57,618,738 (GRCm39)	D152G	probably damaging	Het
Birc6	C	T	17: 74,948,772 (GRCm39)	T3067I	probably damaging	Het
Bmpr2	T	C	1: 59,906,571 (GRCm39)	S555P	probably benign	Het
Brox	A	T	1: 183,074,045 (GRCm39)	L68I	possibly damaging	Het
C130026L21Rik	A	G	5: 111,733,738 (GRCm39)		noncoding transcript	Het
Cavin2	T	C	1: 51,340,229 (GRCm39)	V302A	probably benign	Het
Cbln3	A	T	14: 56,121,522 (GRCm39)	C41*	probably null	Het
Clec4a2	T	A	6: 123,102,043 (GRCm39)	I66N	probably damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Ddx27	T	A	2: 166,869,640 (GRCm39)	C358*	probably null	Het
Ehbp1	A	T	11: 22,101,843 (GRCm39)	D228E	probably damaging	Het
Emc7	T	C	2: 112,285,609 (GRCm39)	V66A	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Furin	T	C	7: 80,048,382 (GRCm39)		probably null	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Gmpr	A	T	13: 45,683,215 (GRCm39)	E162V	probably damaging	Het
Gtpbp4	A	T	13: 9,024,330 (GRCm39)	V541D	probably benign	Het
Myh2	G	T	11: 67,067,096 (GRCm39)	G184W	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nrg4	T	G	9: 55,135,186 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Or14a257	G	T	7: 86,138,034 (GRCm39)	H242N	probably damaging	Het
Or8b12	T	C	9: 37,658,162 (GRCm39)	L244S	possibly damaging	Het
Pde7a	T	A	3: 19,285,140 (GRCm39)	H349L	possibly damaging	Het
Pds5b	A	T	5: 150,711,781 (GRCm39)	D913V	probably damaging	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ralgapb	C	A	2: 158,279,226 (GRCm39)	T104N	probably benign	Het
Rapgef1	A	G	2: 29,569,258 (GRCm39)	I59V	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rsph6a	C	T	7: 18,799,970 (GRCm39)	H534Y	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shcbp1	T	C	8: 4,789,193 (GRCm39)	Y542C	probably damaging	Het
Shisa8	C	G	15: 82,096,163 (GRCm39)	V151L	possibly damaging	Het
Slc7a8	G	A	14: 54,975,059 (GRCm39)	T190I	probably damaging	Het
Spire2	T	A	8: 124,086,974 (GRCm39)	S382T	probably benign	Het
Stard9	A	G	2: 120,526,926 (GRCm39)	D1061G	probably damaging	Het
Tex44	T	G	1: 86,355,298 (GRCm39)	D402E	probably benign	Het
Thbs1	G	T	2: 117,953,460 (GRCm39)	R959L	probably damaging	Het
Tiam2	A	G	17: 3,564,986 (GRCm39)	D1408G	probably damaging	Het
Trrap	C	T	5: 144,762,131 (GRCm39)	T2352I	probably benign	Het
Tspyl5	T	A	15: 33,687,738 (GRCm39)	E69V	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Washc1	C	T	17: 66,426,087 (GRCm39)	Q462*	probably null	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het

Other mutations in Ccdc88c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCACTGTAGGAGAAAAGTGCTG -3'
(R):5'- GACCCAGAATTGTCACATGCC -3'

Sequencing Primer
(F):5'- GGGTTGCTACCACTGCTAC -3'
(R):5'- CAGAATTGTCACATGCCTGTCAG -3'

Posted On

2015-08-18