Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Ccdc88c'

295789

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc88c

Ensembl Gene

ENSMUSG00000021182

Gene Name

coiled-coil domain containing 88C

Synonyms

Daple, 0610010D24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

100877782-100995315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100911734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 707 (G707D)

Ref Sequence

ENSEMBL: ENSMUSP00000082177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068411] [ENSMUST00000085096] [ENSMUST00000223235]

AlphaFold

Q6VGS5

Predicted Effect

probably benign
Transcript: ENSMUST00000068411
AA Change: G700D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: G700D

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

probably benign
Transcript: ENSMUST00000085096
AA Change: G707D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: G707D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221309

Predicted Effect

probably benign
Transcript: ENSMUST00000223235

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138 (GRCm39)	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,198,697 (GRCm39)	R242G	probably benign	Het
Ash1l	T	A	3: 88,973,525 (GRCm39)	L2528*	probably null	Het
Astn2	T	A	4: 65,910,585 (GRCm39)	M468L	probably benign	Het
Bglap2	A	T	3: 88,285,243 (GRCm39)	C74*	probably null	Het
Cand1	A	G	10: 119,049,522 (GRCm39)	V408A	probably benign	Het
Ccdc14	A	G	16: 34,543,784 (GRCm39)	Y714C	probably damaging	Het
Cdk13	G	A	13: 17,913,710 (GRCm39)	R890*	probably null	Het
Cep192	A	G	18: 67,937,453 (GRCm39)	E61G	probably benign	Het
Ctdspl	T	C	9: 118,866,484 (GRCm39)	L181P	probably damaging	Het
Dock7	C	T	4: 98,877,471 (GRCm39)	V442M	probably benign	Het
Dop1a	T	C	9: 86,408,871 (GRCm39)	V1860A	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fscn2	G	A	11: 120,253,228 (GRCm39)	V232M	probably benign	Het
Gemin5	A	T	11: 58,012,583 (GRCm39)	C1458S	probably benign	Het
Glrb	A	G	3: 80,752,539 (GRCm39)	V408A	probably benign	Het
Gtse1	C	T	15: 85,751,704 (GRCm39)	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,893,559 (GRCm39)	M46K	probably damaging	Het
Hdc	A	G	2: 126,436,041 (GRCm39)	F610S	probably benign	Het
Hip1	A	T	5: 135,473,645 (GRCm39)	C224*	probably null	Het
Hsd17b10	G	T	X: 150,787,230 (GRCm39)	A241S	probably benign	Het
Igsf10	G	T	3: 59,235,427 (GRCm39)	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,960,233 (GRCm39)	Y514H	probably damaging	Het
Krt78	T	C	15: 101,862,486 (GRCm39)	I58M	probably benign	Het
Lcat	C	A	8: 106,668,571 (GRCm39)		probably benign	Het
Naca	G	A	10: 127,877,179 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,712,772 (GRCm39)	K2102E	probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or1e35	A	C	11: 73,797,550 (GRCm39)	I256S	possibly damaging	Het
Or4b1b	G	A	2: 90,112,295 (GRCm39)	S208F	probably benign	Het
Or4n4	A	T	14: 50,519,683 (GRCm39)	V9D	probably damaging	Het
Or7c19	C	A	8: 85,957,312 (GRCm39)	L63I	possibly damaging	Het
Patj	T	A	4: 98,592,224 (GRCm39)		probably benign	Het
Pcdhb17	G	A	18: 37,618,347 (GRCm39)	A46T	possibly damaging	Het
Phf8	T	C	X: 150,408,227 (GRCm39)	V859A	probably benign	Het
Plec	T	A	15: 76,060,979 (GRCm39)	E3054V	probably damaging	Het
Prr12	C	A	7: 44,678,270 (GRCm39)	K1958N	unknown	Het
Psmf1	A	G	2: 151,582,929 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,222,002 (GRCm39)		probably null	Het
Samm50	T	C	15: 84,080,015 (GRCm39)	V31A	probably benign	Het
St14	A	G	9: 31,019,941 (GRCm39)	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,590,360 (GRCm39)	N699S	probably damaging	Het
Ttn	A	T	2: 76,574,144 (GRCm39)	M25583K	probably damaging	Het
Utrn	A	G	10: 12,585,798 (GRCm39)	V993A	probably benign	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
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
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

Posted On

2015-04-16