Mutagenetix > Incidental Mutation

Incidental Mutation 'R4270:Ccdc88c'

322134

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88c

Ensembl Gene

ENSMUSG00000021182

Gene Name

coiled-coil domain containing 88C

Synonyms

Daple, 0610010D24Rik

MMRRC Submission

041075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100877782-100995315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100913478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 516 (Q516K)

Ref Sequence

ENSEMBL: ENSMUSP00000068629 (fasta)

Gene Model

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

AlphaFold

Q6VGS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068411
AA Change: Q516K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: Q516K

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: Q523K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: Q523K

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Ctsa	G	T	2: 164,677,222 (GRCm39)	M210I	probably benign	Het
Ctsh	A	G	9: 89,943,651 (GRCm39)	H92R	probably damaging	Het
Fanca	A	G	8: 123,995,533 (GRCm39)	L117P	probably damaging	Het
Foxo1	A	G	3: 52,252,826 (GRCm39)	T330A	probably benign	Het
Ighv1-43	C	G	12: 114,909,772 (GRCm39)	G50A	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Mxra8	C	A	4: 155,925,594 (GRCm39)	P98Q	probably damaging	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nubp2	A	T	17: 25,104,567 (GRCm39)	C58S	probably damaging	Het
Or8c10	A	G	9: 38,278,997 (GRCm39)	N52D	probably damaging	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rbms3	T	A	9: 116,885,816 (GRCm39)	N94I	probably damaging	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Rwdd3	T	C	3: 120,952,550 (GRCm39)	D147G	probably damaging	Het
Slc30a5	T	G	13: 100,965,521 (GRCm39)	R29S	probably benign	Het
Syt10	C	A	15: 89,675,095 (GRCm39)	R417L	probably benign	Het
Trim58	T	C	11: 58,542,093 (GRCm39)	V351A	probably damaging	Het
Trpc3	G	T	3: 36,717,074 (GRCm39)	Y321*	probably null	Het
Vmn2r107	G	T	17: 20,576,041 (GRCm39)	V124F	probably benign	Het
Xkr7	T	C	2: 152,896,235 (GRCm39)	V363A	possibly damaging	Het
Zfp597	A	T	16: 3,689,954 (GRCm39)	M1K	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
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

Predicted Primers

PCR Primer
(F):5'- AGTCAGAACAATCAGAGCTGTC -3'
(R):5'- TACATTGCTGCAGAGAGACACTG -3'

Sequencing Primer
(F):5'- AGAGCTGTCTGGGGACACTAC -3'
(R):5'- GTCTGTCTGAACACAGCT -3'

Posted On

2015-06-20