Mutagenetix > Incidental Mutations

Incidental Mutation 'R7725:Ccdc114'

595445

Institutional Source

Beutler Lab

Gene Symbol

Ccdc114

Ensembl Gene

ENSMUSG00000040189

Gene Name

coiled-coil domain containing 114

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45924072-45948963 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45948411 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 582 (S582T)

Ref Sequence

ENSEMBL: ENSMUSP00000042772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038720] [ENSMUST00000210867]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038720
AA Change: S582T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: S582T

Domain	Start	End	E-Value	Type
coiled coil region	11	94	N/A	INTRINSIC
coiled coil region	137	156	N/A	INTRINSIC
low complexity region	174	185	N/A	INTRINSIC
coiled coil region	195	229	N/A	INTRINSIC
coiled coil region	303	380	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	504	519	N/A	INTRINSIC
low complexity region	558	588	N/A	INTRINSIC
low complexity region	592	604	N/A	INTRINSIC
low complexity region	621	656	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210867

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,608,499	N164K	probably benign	Het
Anxa2	A	T	9: 69,480,128	K6N	unknown	Het
Arhgap20	T	A	9: 51,831,750	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,438,092	V20I	not run	Het
Bop1	A	G	15: 76,455,383	I254T	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cct4	A	G	11: 22,990,814	K21E	probably benign	Het
Cercam	G	A	2: 29,872,562		probably null	Het
Clip2	A	T	5: 134,517,999	Y238*	probably null	Het
Col19a1	A	T	1: 24,270,444	S1043T	possibly damaging	Het
Ctcf	A	G	8: 105,663,836	Y25C	probably damaging	Het
Dennd4c	C	T	4: 86,786,093	R282C	probably benign	Het
Eef1g	T	A	19: 8,978,063	H425Q	probably benign	Het
Fam131b	C	T	6: 42,318,542	A234T	probably benign	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam187b	A	G	7: 30,977,714	D216G	possibly damaging	Het
Fam35a	T	G	14: 34,268,704	T82P	possibly damaging	Het
Gabra1	A	T	11: 42,135,443	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,828,363		probably null	Het
Gm14124	A	G	2: 150,268,548	Y386C	unknown	Het
Gm3667	T	A	14: 6,874,268	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,351,292	R242H	probably damaging	Het
Gulo	T	C	14: 66,008,073	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,220,617	E49V	unknown	Het
Htra4	A	G	8: 25,037,153	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,543,470	S22P	probably benign	Het
Med12l	A	G	3: 59,255,992	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,279,977	D592E	probably benign	Het
Muc15	A	G	2: 110,731,798	D193G	probably damaging	Het
Ncor2	A	G	5: 125,023,566	V1316A		Het
Olfr1101	T	C	2: 86,988,979	I66V	probably benign	Het
Olfr1380	A	T	11: 49,564,532	I204L	probably benign	Het
Olfr224	A	G	11: 58,566,767	Y193H	probably damaging	Het
Serpina6	A	T	12: 103,648,677	Y303*	probably null	Het
Shroom3	T	C	5: 92,941,653	L754P	probably benign	Het
Skint5	C	A	4: 113,827,902	L539F	unknown	Het
St3gal4	C	A	9: 35,053,079	R209L	possibly damaging	Het
Tex14	A	C	11: 87,495,042	T243P	probably damaging	Het
Ttc12	T	A	9: 49,440,302	M632L	probably benign	Het
Ttn	T	C	2: 76,907,772	E4187G	unknown	Het
Txk	G	A	5: 72,707,557	A379V	probably damaging	Het
Wdr43	A	G	17: 71,616,343	Y28C	probably benign	Het
Zfp40	A	G	17: 23,178,277	V82A	probably benign	Het
Zfp994	A	T	17: 22,200,110	N619K	probably benign	Het

Other mutations in Ccdc114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Ccdc114	APN	7	45942656	missense	probably damaging	1.00
IGL01383:Ccdc114	APN	7	45939700	missense	probably damaging	1.00
IGL01826:Ccdc114	APN	7	45948386	missense	possibly damaging	0.62
R0865:Ccdc114	UTSW	7	45942088	missense	probably benign	0.17
R1061:Ccdc114	UTSW	7	45941755	missense	probably damaging	0.96
R1217:Ccdc114	UTSW	7	45942758	splice site	probably benign
R1533:Ccdc114	UTSW	7	45942858	missense	probably benign	0.00
R2863:Ccdc114	UTSW	7	45948312	missense	probably benign	0.04
R3954:Ccdc114	UTSW	7	45941676	missense	probably damaging	1.00
R4774:Ccdc114	UTSW	7	45948380	missense	probably damaging	0.99
R4861:Ccdc114	UTSW	7	45942873	missense	probably damaging	0.98
R4861:Ccdc114	UTSW	7	45942873	missense	probably damaging	0.98
R4952:Ccdc114	UTSW	7	45942191	missense	probably damaging	1.00
R5074:Ccdc114	UTSW	7	45929090	missense	probably benign	0.05
R5187:Ccdc114	UTSW	7	45929116	missense	probably damaging	1.00
R5265:Ccdc114	UTSW	7	45947435	missense	probably damaging	1.00
R5364:Ccdc114	UTSW	7	45936332	missense	probably damaging	0.99
R5377:Ccdc114	UTSW	7	45942082	nonsense	probably null
R6221:Ccdc114	UTSW	7	45947479	missense	probably damaging	1.00
R6246:Ccdc114	UTSW	7	45936364	missense	probably damaging	1.00
R6324:Ccdc114	UTSW	7	45941710	missense	probably damaging	1.00
R6389:Ccdc114	UTSW	7	45948516	missense	probably benign	0.32
R6542:Ccdc114	UTSW	7	45948390	missense	probably benign	0.00
R6593:Ccdc114	UTSW	7	45947384	missense	probably damaging	0.96
R7215:Ccdc114	UTSW	7	45936622	missense	probably damaging	1.00
R7401:Ccdc114	UTSW	7	45942765	missense	probably damaging	1.00
R7431:Ccdc114	UTSW	7	45929246	missense	probably damaging	0.99
R7878:Ccdc114	UTSW	7	45924560	missense	possibly damaging	0.91
R8036:Ccdc114	UTSW	7	45942852	missense	probably benign	0.06
X0064:Ccdc114	UTSW	7	45948393	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGTCCCCAAGCATTCCAAGAAG -3'
(R):5'- GGAGTCCTTGCTAGTAGAGGAG -3'

Sequencing Primer
(F):5'- TTCCAAGAAGACCAGTGTAGTC -3'
(R):5'- CTAGTAGAGGAGCTGGGCCTG -3'

Posted On

2019-11-12