Mutagenetix > Incidental Mutation

Incidental Mutation 'R9093:Ccdc114'

691138

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 #

R9093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45924072-45948963 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45947541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 431 (V431I)

Ref Sequence

ENSEMBL: ENSMUSP00000042772 (fasta)

Gene Model

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

AlphaFold

Q3UX62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038720
AA Change: V431I

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: V431I

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: 99.6%
20x: 98.6%

Validation Efficiency

97% (76/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	G	A	9: 51,290,216	P180L	possibly damaging	Het
Abcb11	A	T	2: 69,239,169	V1294E	probably damaging	Het
Ada	C	T	2: 163,735,388	G60D	probably benign	Het
Aff3	G	T	1: 38,252,657	R390S	possibly damaging	Het
Aldh3b3	T	A	19: 3,963,959	N53K	possibly damaging	Het
Ankrd36	G	A	11: 5,639,132	M410I	probably benign	Het
Ap2b1	T	A	11: 83,324,569	I113N	probably damaging	Het
Art5	G	T	7: 102,098,189	H128N	probably benign	Het
Calhm2	A	C	19: 47,133,160	L190R	probably benign	Het
Catsperg1	G	C	7: 29,184,727	T987R	probably damaging	Het
Cdh18	A	T	15: 23,473,978	I645F	probably damaging	Het
Cenpe	C	T	3: 135,239,880	Q1052*	probably null	Het
Cfap221	G	T	1: 119,936,126	Q563K	probably damaging	Het
Cfap54	T	A	10: 92,815,908	E3093D	probably benign	Het
Chd4	A	G	6: 125,114,011	M1186V	probably benign	Het
Chst15	A	T	7: 132,268,917		probably null	Het
Clca2	T	C	3: 145,075,720	T688A	probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Cul1	T	A	6: 47,518,239	N518K	probably damaging	Het
E230025N22Rik	G	T	18: 36,688,899	L247I	possibly damaging	Het
Eno4	A	T	19: 58,953,168	K174*	probably null	Het
Enpp3	G	A	10: 24,795,804	P431S	probably benign	Het
Fam160a2	T	A	7: 105,385,392	T408S	probably damaging	Het
Fam46b	A	G	4: 133,487,041	T408A	probably damaging	Het
Fbxo18	T	A	2: 11,759,990	Q444H	probably damaging	Het
Fbxo31	G	A	8: 121,554,397	R337C	probably damaging	Het
Fbxw14	A	G	9: 109,276,182	I305T	probably benign	Het
Gas2	T	A	7: 51,953,221	C216S	probably damaging	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,326,665		probably null	Het
Glp2r	T	A	11: 67,730,633	R344*	probably null	Het
Gm17430	A	G	18: 9,726,640	Y11H	probably damaging	Het
Gyg	T	A	3: 20,122,737	D363V	probably damaging	Het
Hectd4	A	G	5: 121,273,614	N451S	probably benign	Het
Hif1a	T	C	12: 73,932,337	Y212H	probably benign	Het
Hist2h2bb	G	A	3: 96,269,974	A75T	probably benign	Het
Hoxd11	A	T	2: 74,684,138	*337C	probably null	Het
Kif24	A	G	4: 41,428,691	F90L	probably benign	Het
Klhl20	A	T	1: 161,095,661	C497*	probably null	Het
Loxl1	C	A	9: 58,311,941	A316S	probably benign	Het
Lrig3	C	T	10: 126,010,081	P793L	possibly damaging	Het
Macc1	A	G	12: 119,446,826	D443G	probably benign	Het
Maip1	A	T	1: 57,407,152	Y127F	possibly damaging	Het
Mrm2	A	T	5: 140,328,672	F136Y	probably benign	Het
Nasp	G	T	4: 116,610,820	L323I	probably benign	Het
Ndufb8	A	T	19: 44,550,384	L166Q	probably damaging	Het
Nid2	C	T	14: 19,807,941	T1274I		Het
Nup210	T	A	6: 91,089,890	T160S	probably benign	Het
Nutm2	A	G	13: 50,474,928	K676R	probably damaging	Het
Olfr1154	A	T	2: 87,903,136	I180N	probably benign	Het
Olfr434	A	G	6: 43,217,566	T218A	probably benign	Het
Olfr504	A	T	7: 108,565,247	C183S	probably damaging	Het
Olfr519	T	C	7: 108,894,402	R7G	probably benign	Het
Olfr853	A	G	9: 19,537,618	V104A	probably benign	Het
Olfr877	A	T	9: 37,854,998	Y60F	probably damaging	Het
Olfr988	T	A	2: 85,353,508	R139S	probably benign	Het
Pcdhga12	C	A	18: 37,766,878	N254K	possibly damaging	Het
Pm20d1	G	T	1: 131,816,015	V473F	probably benign	Het
Rab11fip1	A	G	8: 27,143,327	V596A	probably damaging	Het
Rapgef6	C	T	11: 54,597,086	Q13*	probably null	Het
Rasef	T	C	4: 73,780,346	D26G	probably benign	Het
Rbfox2	A	T	15: 77,306,458	V29E	probably benign	Het
Recql4	G	A	15: 76,705,485	P787S	unknown	Het
Rnf19a	A	C	15: 36,253,304		probably benign	Het
Rnf214	A	G	9: 45,899,756	I203T	probably damaging	Het
Rnmt	A	C	18: 68,318,075	E396D	probably benign	Het
Scn4a	G	A	11: 106,319,812	S1793L	probably benign	Het
Sdcbp	G	T	4: 6,386,709		probably null	Het
Slfn3	A	G	11: 83,213,122	N273S	probably damaging	Het
Slk	A	G	19: 47,615,444	D209G		Het
Tmem135	T	A	7: 89,147,996	M351L	probably benign	Het
Tmem64	A	G	4: 15,266,391	H147R	probably benign	Het
Tnfsf4	T	C	1: 161,417,058	L106P	probably damaging	Het
Tonsl	A	T	15: 76,631,070	C1039S	probably damaging	Het
Ube4a	A	T	9: 44,953,164	F44I	possibly damaging	Het
Vmn2r40	A	G	7: 8,908,173	L707P		Het
Vmn2r87	G	A	10: 130,472,296	T691I	probably benign	Het
Wbp11	A	T	6: 136,826,046	S7T	possibly damaging	Het
Zfp386	C	A	12: 116,060,258	S532*	probably null	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
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
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'- AACTCACCTTTGCAGGGAGG -3'
(R):5'- ATCAGGAGGCTTGAGTGGAGTC -3'

Sequencing Primer
(F):5'- ACCTTTGCAGGGAGGCTGTG -3'
(R):5'- AGTCGTCTTCTTGGAGGGTTCC -3'

Posted On

2021-12-30