Mutagenetix > Incidental Mutations

Incidental Mutation 'R5364:Ccdc114'

423014

Institutional Source

Beutler Lab

Gene Symbol

Ccdc114

Ensembl Gene

ENSMUSG00000040189

Gene Name

coiled-coil domain containing 114

Synonyms

MMRRC Submission

042942-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45924072-45948963 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45936332 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 105 (I105N)

Ref Sequence

ENSEMBL: ENSMUSP00000147963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038720] [ENSMUST00000210039] [ENSMUST00000210602] [ENSMUST00000210867] [ENSMUST00000211367]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038720
AA Change: I105N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: I105N

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

possibly damaging
Transcript: ENSMUST00000133500
AA Change: I141N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114367
Gene: ENSMUSG00000040189
AA Change: I141N

Domain	Start	End	E-Value	Type
coiled coil region	23	130	N/A	INTRINSIC
low complexity region	176	189	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210039
AA Change: I144N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000210602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210842

Predicted Effect

probably damaging
Transcript: ENSMUST00000210867
AA Change: I105N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000211367

Meta Mutation Damage Score

0.3378

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767	T242R	probably damaging	Het
Abcc10	G	A	17: 46,305,651	R1205C	probably benign	Het
Acer1	A	G	17: 56,982,000	F37L	probably damaging	Het
Acp7	C	A	7: 28,611,023	G463V	probably benign	Het
Actr2	A	T	11: 20,100,797		probably benign	Het
Adam15	A	T	3: 89,345,595	I272K	probably damaging	Het
Adam1b	T	A	5: 121,500,883	I700F	possibly damaging	Het
Adam33	A	G	2: 131,054,472		probably null	Het
Ano1	T	C	7: 144,637,204	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,314,361	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,849,722	R1610W	probably damaging	Het
Bbs2	A	G	8: 94,074,395	Y603H	probably benign	Het
Bbs9	G	T	9: 22,575,196		probably null	Het
Bcar3	A	C	3: 122,529,632	M779L	probably benign	Het
Bub3	A	T	7: 131,560,738	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,656,543	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,416,858	M1738L	probably benign	Het
Camk2d	G	T	3: 126,780,420	G159C	probably damaging	Het
Ccdc51	A	T	9: 109,092,120	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 180,067,182	D309G	probably benign	Het
Cdhr3	A	T	12: 33,051,008	F468I	possibly damaging	Het
Chrd	A	G	16: 20,733,148	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Dcdc2b	T	C	4: 129,609,170	Y253C	probably damaging	Het
Dclk1	A	C	3: 55,255,945	N153H	possibly damaging	Het
Dgkg	G	T	16: 22,600,461	S96R	probably benign	Het
Dnah9	A	G	11: 65,881,696	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,790,023	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557	Y791N	probably damaging	Het
Fam105a	G	A	15: 27,659,945	Q24*	probably null	Het
Fam193a	C	A	5: 34,466,253	T1395N	probably benign	Het
Fbln5	A	T	12: 101,771,364	V141E	probably damaging	Het
Flii	T	C	11: 60,720,128	T492A	probably benign	Het
Fnip2	A	G	3: 79,481,168	I752T	probably benign	Het
Fpr3	T	C	17: 17,970,544	W26R	probably benign	Het
Gabrb1	A	T	5: 72,136,762	T460S	probably benign	Het
Gde1	T	C	7: 118,698,651	N4S	probably benign	Het
Ghitm	G	T	14: 37,125,199	T306K	probably benign	Het
Ghitm	A	T	14: 37,125,217	I300N	probably damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Iqcd	T	C	5: 120,600,267	I50T	probably damaging	Het
Itpripl1	G	A	2: 127,141,819	P128S	possibly damaging	Het
Jag2	C	A	12: 112,910,534	L1000F	probably damaging	Het
Klhdc4	A	T	8: 121,806,636		probably benign	Het
Klra5	A	G	6: 129,899,353	F164L	probably benign	Het
Larp1b	A	G	3: 40,977,223	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,355,653	E622D	possibly damaging	Het
Lyst	A	G	13: 13,656,854	D1621G	probably benign	Het
Mastl	T	C	2: 23,133,653	T353A	probably benign	Het
Mkln1	T	C	6: 31,496,712	Y130H	probably damaging	Het
Mms22l	T	A	4: 24,496,882		probably benign	Het
Mroh7	T	A	4: 106,691,643	M1008L	probably benign	Het
Nipal1	T	C	5: 72,667,900	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,418,328	Y492*	probably null	Het
Olfr351	T	C	2: 36,859,994	Y118C	probably damaging	Het
Pcdhb11	T	A	18: 37,422,179	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,443,508	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,273,956	T102I	possibly damaging	Het
Pear1	A	T	3: 87,758,361	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128		probably benign	Het
Ppm1e	A	G	11: 87,237,181	W384R	probably benign	Het
Ppp1r10	C	T	17: 35,930,432	P700S	unknown	Het
Prl2c5	G	A	13: 13,183,042	R13K	probably benign	Het
Prmt3	C	A	7: 49,848,806	P487T	probably damaging	Het
Proser3	C	A	7: 30,546,148	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,151,431	T590I	probably damaging	Het
Rbsn	A	G	6: 92,193,977	V321A	probably damaging	Het
Slc40a1	C	A	1: 45,925,223	C14F	probably damaging	Het
Slc6a15	T	C	10: 103,393,508	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,573,363	I449T	probably benign	Het
Snrnp48	T	A	13: 38,210,189		probably null	Het
Tada2a	A	G	11: 84,121,147	Y23H	probably benign	Het
Tbx15	A	T	3: 99,352,192	S460C	possibly damaging	Het
Tbx21	C	T	11: 97,101,478		probably null	Het
Tmcc2	T	G	1: 132,357,796	T376P	probably damaging	Het
Tmco4	G	A	4: 139,052,504	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,864,194	Y157*	probably null	Het
Tmem63b	T	C	17: 45,664,727		probably benign	Het
Tnfrsf1a	T	C	6: 125,357,393	S92P	possibly damaging	Het
Top3b	A	T	16: 16,886,970	T397S	probably benign	Het
Trabd	C	A	15: 89,082,804		probably benign	Het
Trbv21	A	T	6: 41,202,830	I27L	possibly damaging	Het
Trim3	C	T	7: 105,619,069	V169M	probably damaging	Het
Ttn	C	T	2: 76,908,516	S3893N	probably benign	Het
Ttn	T	C	2: 76,977,114	T92A	probably damaging	Het
Uchl4	A	T	9: 64,235,539	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,985,598	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,670,903	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,257,948	C139*	probably null	Het
Zfp788	T	C	7: 41,650,127	L729P	probably damaging	Het
Zmym2	T	A	14: 56,920,645	M547K	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
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
X0064:Ccdc114	UTSW	7	45948393	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CAGTGGCTACAAGGGCATTTTG -3'
(R):5'- GATGTCAGAGCATTCATGAGGC -3'

Sequencing Primer
(F):5'- GCATTTTGGCCTCGTTGG -3'
(R):5'- ATTCATGAGGCCCAGGTACGTG -3'

Posted On

2016-08-04