Mutagenetix > Incidental Mutation

Incidental Mutation 'R8681:Ccdc114'

661744

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: 0.074) question?

Stock #

R8681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45924072-45948963 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45941839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 246 (E246G)

Ref Sequence

ENSEMBL: ENSMUSP00000042772 (fasta)

Gene Model

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

AlphaFold

Q3UX62

Predicted Effect

probably damaging
Transcript: ENSMUST00000038720
AA Change: E246G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: E246G

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: 99.2%
20x: 97.0%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,190,559	F583S	probably damaging	Het
A430078G23Rik	A	G	8: 3,389,074	Y477C	unknown	Het
Abcc12	A	G	8: 86,505,279	V1347A	possibly damaging	Het
Adam32	G	A	8: 24,837,795	T750I	unknown	Het
Adcy1	T	C	11: 7,161,328	I873T	probably damaging	Het
Aebp1	A	G	11: 5,867,899	D438G	probably null	Het
Anks1b	T	A	10: 90,050,006	M188K	probably damaging	Het
Cep112	T	C	11: 108,425,652		probably null	Het
Clu	T	C	14: 65,980,957	V422A	probably damaging	Het
Cntrl	T	C	2: 35,148,588	L1050P	probably damaging	Het
Col23a1	A	T	11: 51,567,929	T298S	possibly damaging	Het
Cyp26c1	A	T	19: 37,686,617	T129S	probably damaging	Het
Cyp2c38	A	C	19: 39,401,691	V355G	possibly damaging	Het
Cyp4a30b	G	A	4: 115,457,745	V175M	possibly damaging	Het
Cyp7a1	A	T	4: 6,271,207	N316K	probably benign	Het
Dcaf17	T	A	2: 71,056,569	Y67*	probably null	Het
Dll3	T	C	7: 28,294,845	D389G	probably damaging	Het
Fbxo33	A	G	12: 59,219,044	F146L	probably benign	Het
Gm10118	C	T	10: 63,926,977	V61M	unknown	Het
Gm9611	T	C	14: 42,296,069	D102G		Het
Grik5	G	A	7: 25,010,472	A946V	probably benign	Het
Il17c	A	G	8: 122,423,468	D150G	possibly damaging	Het
Ino80e	A	G	7: 126,861,721	L22P	probably damaging	Het
Kcnh2	G	T	5: 24,331,983	T201K	probably benign	Het
Klrb1	A	C	6: 128,710,049	N173K	possibly damaging	Het
Kmt2d	T	A	15: 98,846,067	Q3737H	unknown	Het
Lemd3	T	C	10: 120,931,823	D682G	possibly damaging	Het
Lilra5	T	C	7: 4,238,217	V51A	probably benign	Het
Lrrc25	G	A	8: 70,617,664	V32I	possibly damaging	Het
Mdh1b	T	A	1: 63,715,201	M403L	probably benign	Het
Mms19	G	A	19: 41,949,476	L765F	probably damaging	Het
Msx3	T	A	7: 140,048,987	T5S	probably benign	Het
Myh13	A	C	11: 67,352,134	I958L	possibly damaging	Het
Myo18b	T	A	5: 112,873,563		probably null	Het
Myo9a	G	A	9: 59,868,111	V1002I	probably benign	Het
Neb	T	C	2: 52,237,036	K379R	probably damaging	Het
Nsmce2	A	G	15: 59,601,359	S216G	probably benign	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr746	A	T	14: 50,653,344	M36L	probably benign	Het
Pkp2	A	T	16: 16,230,681	M317L	probably benign	Het
Pogz	T	A	3: 94,860,923	H137Q	probably damaging	Het
Prrx2	G	T	2: 30,845,507	D25Y	unknown	Het
Ptprf	T	C	4: 118,231,647	D653G	probably benign	Het
Rps6kl1	T	A	12: 85,147,855	E94V	probably damaging	Het
Slc44a1	A	T	4: 53,481,510	D27V	probably damaging	Het
Slc44a4	A	G	17: 34,928,277	I549V	possibly damaging	Het
Slc8a3	T	C	12: 81,315,140	T302A	probably benign	Het
Spic	T	A	10: 88,675,985	K136N	possibly damaging	Het
Stk36	T	C	1: 74,622,233	L473P	probably damaging	Het
Syce1	G	A	7: 140,782,074	T32I	possibly damaging	Het
Tars2	G	A	3: 95,750,887	Q209*	probably null	Het
Tmem9b	A	G	7: 109,745,320	V100A	probably benign	Het
Vmn1r67	A	G	7: 10,447,201	I131V	probably benign	Het
Vmn2r26	C	T	6: 124,024,918	T54I	probably benign	Het
Zfp142	T	C	1: 74,571,588	E1016G	probably damaging	Het
Zfp773	T	C	7: 7,136,483	T56A	possibly damaging	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
R8036:Ccdc114	UTSW	7	45942852	missense	probably benign	0.06
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'- ACCAAGATGGGCATGCTTC -3'
(R):5'- CACTAGCTTCTCTTGGGAGGTC -3'

Sequencing Primer
(F):5'- GATGGGCATGCTTCAGGAG -3'
(R):5'- TTGCATCCTGGATAAGGCC -3'

Posted On

2021-03-08