Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Ccdc88c'

571828

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88c

Ensembl Gene

ENSMUSG00000021182

Gene Name

coiled-coil domain containing 88C

Synonyms

Daple, 0610010D24Rik

MMRRC Submission

045450-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100877782-100995315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100911209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 875 (R875L)

Ref Sequence

ENSEMBL: ENSMUSP00000068629 (fasta)

Gene Model

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

AlphaFold

Q6VGS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068411
AA Change: R875L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: R875L

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: R882L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: R882L

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

probably damaging
Transcript: ENSMUST00000223235
AA Change: R75L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,203,303 (GRCm39)	P244S	possibly damaging	Het
4930562C15Rik	A	G	16: 4,653,633 (GRCm39)	I61V	unknown	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,562,064 (GRCm39)	E181G	probably benign	Het
Ano3	T	C	2: 110,587,412 (GRCm39)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,210,716 (GRCm39)		probably null	Het
AU018091	A	T	7: 3,206,170 (GRCm39)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,779,216 (GRCm39)	T724K	probably benign	Het
Bmper	T	C	9: 23,395,300 (GRCm39)	I677T	probably damaging	Het
C3	T	A	17: 57,528,162 (GRCm39)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,887,332 (GRCm39)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,339,541 (GRCm39)	E462*	probably null	Het
Cd177	C	T	7: 24,456,147 (GRCm39)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,151,471 (GRCm39)	Y2471*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,590,002 (GRCm39)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm39)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,825,533 (GRCm39)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,228,849 (GRCm39)	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,922,717 (GRCm39)	I481L	probably benign	Het
Dlst	A	T	12: 85,175,089 (GRCm39)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,061,905 (GRCm39)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,184,943 (GRCm39)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,423,594 (GRCm39)	A127E	unknown	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm39)	C628R	probably damaging	Het
Edem3	T	A	1: 151,688,365 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,098,944 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,564,168 (GRCm39)	Q528H	possibly damaging	Het
Fanca	T	C	8: 124,007,952 (GRCm39)	E981G	probably benign	Het
Fbp2	A	G	13: 62,985,012 (GRCm39)	V303A	possibly damaging	Het
Flii	C	T	11: 60,611,945 (GRCm39)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,676,584 (GRCm39)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,058,768 (GRCm39)	T284P	possibly damaging	Het
Gm7168	T	C	17: 14,170,147 (GRCm39)	S505P	probably damaging	Het
Gnal	T	C	18: 67,344,142 (GRCm39)	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,294,603 (GRCm39)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Il3	T	A	11: 54,156,709 (GRCm39)	R93S	probably benign	Het
Itsn1	A	G	16: 91,705,338 (GRCm39)	E1573G	unknown	Het
Kif26a	G	A	12: 112,129,976 (GRCm39)		probably null	Het
Klb	T	C	5: 65,529,774 (GRCm39)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,314,150 (GRCm39)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,656,127 (GRCm39)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,745,192 (GRCm39)	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,164,580 (GRCm39)	I1186V	probably benign	Het
Mboat1	T	A	13: 30,386,345 (GRCm39)	C120S	possibly damaging	Het
Mctp2	T	A	7: 71,908,962 (GRCm39)	D117V	probably benign	Het
Mocos	C	A	18: 24,809,673 (GRCm39)	N425K	probably damaging	Het
Nav2	A	G	7: 49,203,951 (GRCm39)		probably null	Het
Ngfr	A	T	11: 95,465,255 (GRCm39)	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,479,608 (GRCm39)	S596G	probably damaging	Het
Or2ag1	G	T	7: 106,472,603 (GRCm39)	P283Q	probably damaging	Het
Or51g1	A	T	7: 102,633,723 (GRCm39)	I216K	probably damaging	Het
Or52e3	T	G	7: 102,869,740 (GRCm39)	Y272D	probably benign	Het
Or5v1b	T	A	17: 37,841,708 (GRCm39)	V280D	probably damaging	Het
Or6b3	A	G	1: 92,439,400 (GRCm39)	S117P	possibly damaging	Het
Pithd1	T	C	4: 135,714,361 (GRCm39)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,939,389 (GRCm39)	T530A	probably benign	Het
Prss40	A	T	1: 34,598,952 (GRCm39)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,214,700 (GRCm39)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,113,410 (GRCm39)	R36H	possibly damaging	Het
Rnf125	A	G	18: 21,107,490 (GRCm39)	N7S	not run	Het
Rpe65	G	A	3: 159,330,366 (GRCm39)	S511N	probably benign	Het
Rspo4	A	T	2: 151,709,793 (GRCm39)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,071,573 (GRCm39)	S437P	probably benign	Het
Sele	C	A	1: 163,876,288 (GRCm39)	R12S	probably benign	Het
Sgo2b	T	A	8: 64,391,451 (GRCm39)	K139*	probably null	Het
Shroom3	C	A	5: 93,112,465 (GRCm39)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,326,885 (GRCm39)	R191*	probably null	Het
Spag9	G	T	11: 93,999,347 (GRCm39)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,650,968 (GRCm39)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,360,823 (GRCm39)		probably null	Het
Sult2a8	A	T	7: 14,150,254 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,907,690 (GRCm39)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,881,914 (GRCm39)		probably null	Het
Tektip1	T	C	10: 81,200,025 (GRCm39)	D165G	possibly damaging	Het
Tenm2	T	C	11: 35,960,241 (GRCm39)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,478,897 (GRCm39)	N62K	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,313,027 (GRCm39)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,258,713 (GRCm39)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,354,384 (GRCm39)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,199,871 (GRCm39)	Y185C	probably damaging	Het
Ubr2	C	T	17: 47,266,771 (GRCm39)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Yipf3	T	A	17: 46,559,855 (GRCm39)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,289,606 (GRCm39)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,602,979 (GRCm39)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,389,571 (GRCm39)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,184,671 (GRCm39)		probably null	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
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
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'- CCCAGGGGAAAACATCTCAG -3'
(R):5'- AGACCTAGAGACTCTCCAGC -3'

Sequencing Primer
(F):5'- TCTCAGGAGGACACACCAAG -3'
(R):5'- ACCCACAAGCAGCTGGAGG -3'

Posted On

2019-09-13