Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Ccdc114'

618236

Institutional Source

Beutler Lab

Gene Symbol

Ccdc114

Ensembl Gene

ENSMUSG00000040189

Gene Name

coiled-coil domain containing 114

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45924072-45948963 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45942852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 352 (D352G)

Ref Sequence

ENSEMBL: ENSMUSP00000042772 (fasta)

Gene Model

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

AlphaFold

Q3UX62

Predicted Effect

probably benign
Transcript: ENSMUST00000038720
AA Change: D352G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: D352G

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	T	1: 105,678,177	I181F	probably damaging	Het
Abcc3	A	G	11: 94,345,992	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,070,397	C3604*	probably null	Het
Alas1	A	G	9: 106,235,522	I545T	probably benign	Het
Anpep	A	C	7: 79,841,898	D118E	probably benign	Het
Arhgef17	A	T	7: 100,929,855	S629T	probably damaging	Het
Arid2	C	T	15: 96,368,744	R558C	probably damaging	Het
Camk2n1	A	G	4: 138,456,745	D65G	probably damaging	Het
Ccdc177	T	C	12: 80,758,123	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 135,239,848		probably null	Het
Crb1	T	C	1: 139,237,384	I1062V	probably benign	Het
Decr2	A	G	17: 26,082,988	L256P	probably damaging	Het
Dhx37	T	C	5: 125,424,675	M507V	probably benign	Het
Disp1	A	G	1: 183,089,239	I539T	probably damaging	Het
Dqx1	T	A	6: 83,059,807	V264E	probably damaging	Het
Enpp4	A	G	17: 44,102,245	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,349,011	T476A	probably benign	Het
Fam20b	A	G	1: 156,705,837	W70R	probably damaging	Het
Fbxl13	T	A	5: 21,523,568	N508Y	probably damaging	Het
Fjx1	A	G	2: 102,450,375	L405P	probably damaging	Het
Fn1	G	A	1: 71,590,151	Q2399*	probably null	Het
Foxa2	G	C	2: 148,043,989	T308S	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gm10521	A	G	1: 171,896,185	D21G	unknown	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Herpud1	A	G	8: 94,392,386	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Kctd13	A	G	7: 126,929,242	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,701,059	D125Y	probably damaging	Het
Luzp2	A	G	7: 55,075,075	D128G	probably damaging	Het
Lyve1	A	G	7: 110,859,442	C105R	probably damaging	Het
Mlkl	A	T	8: 111,333,454	V100E	probably damaging	Het
Muc5b	T	C	7: 141,867,741	S4323P	possibly damaging	Het
Myoz3	T	G	18: 60,580,850		probably null	Het
Nlrp9c	T	A	7: 26,371,439	N906Y	possibly damaging	Het
Olfr1132	C	T	2: 87,635,503	M81I	probably benign	Het
Olfr248	A	G	1: 174,391,816	H249R	probably damaging	Het
Olfr564	A	T	7: 102,803,556	H26L	possibly damaging	Het
Olfr913	T	C	9: 38,594,890	F223S	probably benign	Het
Pcsk9	G	A	4: 106,454,339	H232Y	possibly damaging	Het
Plec	A	G	15: 76,179,180	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,146,908	T47S	probably damaging	Het
Rab8a	A	T	8: 72,174,595	I106F	probably damaging	Het
Ros1	A	T	10: 52,165,343	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,942,099	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spata20	T	G	11: 94,479,137	I778L	probably benign	Het
Taar1	A	T	10: 23,921,135	T244S	probably benign	Het
Tmem229b	C	A	12: 78,965,088	C23F	probably damaging	Het
Ttll4	A	G	1: 74,679,230	Y80C	probably benign	Het
Ube2m	G	A	7: 13,035,639	T176I	probably benign	Het
Zfp790	G	A	7: 29,828,921	A344T	possibly damaging	Het
Zfp90	G	A	8: 106,419,128	V31M	probably benign	Het
Zswim4	C	T	8: 84,223,289	R659Q	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
R7725:Ccdc114	UTSW	7	45948411	missense	probably damaging	0.98
R7878:Ccdc114	UTSW	7	45924560	missense	possibly damaging	0.91
R8681:Ccdc114	UTSW	7	45941839	missense	probably damaging	0.96
R8686:Ccdc114	UTSW	7	45947692	missense	probably benign	0.20
R9016:Ccdc114	UTSW	7	45936564	missense	probably damaging	1.00
R9093:Ccdc114	UTSW	7	45947541	missense	possibly damaging	0.53
R9254:Ccdc114	UTSW	7	45947692	missense	probably benign	0.20
R9379:Ccdc114	UTSW	7	45947692	missense	probably benign	0.20
R9410:Ccdc114	UTSW	7	45948397	missense	probably benign	0.00
R9713:Ccdc114	UTSW	7	45929138	missense	probably damaging	0.96
X0064:Ccdc114	UTSW	7	45948393	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CGAGATACACCACCTTCAGG -3'
(R):5'- AGCAAACGCGTAATGCCTTC -3'

Sequencing Primer
(F):5'- AGGTGAGCAAGGCCCAC -3'
(R):5'- TCATGGCCAGCTCCCCAC -3'

Posted On

2020-01-23