Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Ccdc88c'

281080

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 #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

100877782-100995315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100906349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1062 (R1062C)

Ref Sequence

ENSEMBL: ENSMUSP00000082177 (fasta)

Gene Model

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

AlphaFold

Q6VGS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068411
AA Change: R1055C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: R1055C

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 damaging
Transcript: ENSMUST00000085096
AA Change: R1062C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: R1062C

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

unknown
Transcript: ENSMUST00000223235
AA Change: R160C

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530068E07Rik	G	T	11: 52,294,337 (GRCm39)	A193S	probably damaging	Het
Adam4	A	G	12: 81,466,803 (GRCm39)	V606A	probably benign	Het
Atp2c2	A	G	8: 120,481,074 (GRCm39)	I821V	probably benign	Het
Bmi1	A	T	2: 18,688,488 (GRCm39)	R160W	probably damaging	Het
Ccdc198	T	A	14: 49,470,424 (GRCm39)	Q165L	probably benign	Het
Cntnap3	A	T	13: 64,899,487 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,648,937 (GRCm39)	T940I	probably damaging	Het
Csmd3	A	C	15: 47,721,338 (GRCm39)	M1535R	possibly damaging	Het
Dhx38	C	A	8: 110,284,873 (GRCm39)	E487*	probably null	Het
Fam186b	A	G	15: 99,171,584 (GRCm39)	S888P	probably damaging	Het
Fancm	G	A	12: 65,153,249 (GRCm39)	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946 (GRCm39)	W262*	probably null	Het
Gtdc1	A	T	2: 44,465,455 (GRCm39)	M305K	probably damaging	Het
H2-M9	T	C	17: 36,952,629 (GRCm39)	E139G	possibly damaging	Het
Haus1	A	T	18: 77,854,611 (GRCm39)	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,203,931 (GRCm39)	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,796,069 (GRCm39)	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,098,713 (GRCm39)		probably benign	Het
Kndc1	A	G	7: 139,500,683 (GRCm39)	T683A	probably benign	Het
Ldhb	A	T	6: 142,438,226 (GRCm39)	M277K	probably benign	Het
Mgam	T	C	6: 40,620,010 (GRCm39)	L33P	probably damaging	Het
Ndst1	A	G	18: 60,832,618 (GRCm39)	F571L	probably benign	Het
Neb	G	T	2: 52,102,816 (GRCm39)		probably null	Het
Nrxn1	A	G	17: 90,950,671 (GRCm39)	S503P	probably damaging	Het
Paqr3	A	G	5: 97,243,790 (GRCm39)	V308A	probably benign	Het
Scnn1g	T	C	7: 121,342,922 (GRCm39)	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,662 (GRCm39)	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,604,330 (GRCm39)	E683V	probably benign	Het
Tprkb	T	C	6: 85,904,893 (GRCm39)	V123A	probably benign	Het
Ush2a	T	C	1: 188,175,540 (GRCm39)	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,313,868 (GRCm39)		probably null	Het
Wls	A	G	3: 159,603,007 (GRCm39)	Y140C	probably damaging	Het
Zan	A	G	5: 137,409,760 (GRCm39)	S28P	possibly 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
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
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