Mutagenetix > Incidental Mutation

Incidental Mutation 'R7795:Ccdc88c'

600185

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88c

Ensembl Gene

ENSMUSG00000021182

Gene Name

coiled-coil domain containing 88C

Synonyms

Daple, 0610010D24Rik

MMRRC Submission

045851-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100877782-100995315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100889570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1491 (T1491I)

Ref Sequence

ENSEMBL: ENSMUSP00000068629 (fasta)

Gene Model

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

AlphaFold

Q6VGS5

Predicted Effect

probably benign
Transcript: ENSMUST00000068411
AA Change: T1491I

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068629
Gene: ENSMUSG00000021182
AA Change: T1491I

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: T1498I

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082177
Gene: ENSMUSG00000021182
AA Change: T1498I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle1	T	C	8: 71,861,337 (GRCm39)	S391P	probably damaging	Het
Ankmy1	T	C	1: 92,811,570 (GRCm39)	Q606R	probably benign	Het
Bmf	A	G	2: 118,377,358 (GRCm39)	L130P	probably damaging	Het
Cyp2c69	G	A	19: 39,864,663 (GRCm39)	R272C	probably benign	Het
Defa27	A	G	8: 21,806,354 (GRCm39)	N78S	probably benign	Het
Depdc5	T	A	5: 33,101,447 (GRCm39)	D912E	probably damaging	Het
Dsc3	C	T	18: 20,099,288 (GRCm39)	D743N	probably damaging	Het
Epcam	T	C	17: 87,950,983 (GRCm39)	V190A	probably benign	Het
Exoc2	G	A	13: 31,060,756 (GRCm39)	R583*	probably null	Het
Extl1	T	A	4: 134,091,990 (GRCm39)	I288F	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcer2a	T	A	8: 3,732,910 (GRCm39)	Y299F	probably benign	Het
Frmd4a	G	A	2: 4,595,506 (GRCm39)	G439R	probably damaging	Het
Gal3st4	T	C	5: 138,269,100 (GRCm39)	H120R	probably benign	Het
Grid1	C	A	14: 35,043,642 (GRCm39)	N332K	probably damaging	Het
Igkv4-68	A	G	6: 69,281,896 (GRCm39)	Y92H	probably damaging	Het
Itga1	T	C	13: 115,148,772 (GRCm39)	E283G	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc24	A	G	15: 76,602,248 (GRCm39)	L169P	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mettl8	T	C	2: 70,812,243 (GRCm39)	T131A	probably benign	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Nbr1	T	A	11: 101,460,154 (GRCm39)	D383E	probably damaging	Het
Neto1	A	T	18: 86,479,198 (GRCm39)	K167N	probably benign	Het
Nkx6-1	A	T	5: 101,811,628 (GRCm39)	L158Q	unknown	Het
Nlrp5	G	A	7: 23,118,219 (GRCm39)	V648M	possibly damaging	Het
Nvl	G	T	1: 180,924,722 (GRCm39)	Q811K	probably benign	Het
Or13a21	A	G	7: 139,999,027 (GRCm39)	F220L	possibly damaging	Het
Or13p3	C	A	4: 118,566,855 (GRCm39)	H84N	possibly damaging	Het
Or1j10	A	G	2: 36,267,453 (GRCm39)	T222A	probably benign	Het
Or3a1c	T	A	11: 74,046,844 (GRCm39)	L288Q	probably damaging	Het
Pccb	T	C	9: 100,881,316 (GRCm39)	Y224C	probably damaging	Het
Pcdh10	T	C	3: 45,334,657 (GRCm39)	Y324H	probably benign	Het
Pecam1	C	A	11: 106,586,658 (GRCm39)	E286*	probably null	Het
Prl7d1	A	T	13: 27,893,263 (GRCm39)	L215Q	probably damaging	Het
Ranbp2	T	A	10: 58,319,729 (GRCm39)	Y2514*	probably null	Het
Rgs11	A	G	17: 26,426,552 (GRCm39)	H261R	possibly damaging	Het
Samd15	A	G	12: 87,247,506 (GRCm39)	T64A	probably benign	Het
Shc4	T	A	2: 125,565,285 (GRCm39)	S5C	probably damaging	Het
Shroom3	G	A	5: 93,067,508 (GRCm39)	V109M	probably damaging	Het
Spata13	T	C	14: 60,929,291 (GRCm39)	I283T	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Synj2bp	G	A	12: 81,548,922 (GRCm39)	P106S	probably benign	Het
Tasor	T	C	14: 27,203,340 (GRCm39)	S289P		Het
Thoc1	T	C	18: 9,986,300 (GRCm39)	V344A	probably damaging	Het
Vmn1r71	A	G	7: 10,482,136 (GRCm39)	L184S	probably damaging	Het
Vps45	A	G	3: 95,926,936 (GRCm39)	I537T	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
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
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'- GACTCAGAAATCTTTCTTCATCAGC -3'
(R):5'- AAACCCACCCAGCTTGTGTC -3'

Sequencing Primer
(F):5'- TCTGGTCTTTAGGCAGGCCC -3'
(R):5'- ACCCAGCTTGTGTCTCTGTGG -3'

Posted On

2019-11-26