Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Ccdc114'

401652

Institutional Source

Beutler Lab

Gene Symbol

Ccdc114

Ensembl Gene

ENSMUSG00000040189

Gene Name

coiled-coil domain containing 114

Synonyms

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5265 (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 45947435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 395 (D395E)

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: D395E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: D395E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

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
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	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
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
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'- AGGCTAGGCAGACATTGTGG -3'
(R):5'- GTGCTAGAAGTGCAGCATCAG -3'

Sequencing Primer
(F):5'- AGACATTGTGGCTGGCTG -3'
(R):5'- TGCAGCATCAGCCAAAGG -3'

Posted On

2016-07-06