Mutagenetix > Incidental Mutation

Incidental Mutation 'R7878:Ccdc114'

608574

Institutional Source

Beutler Lab

Gene Symbol

Ccdc114

Ensembl Gene

ENSMUSG00000040189

Gene Name

coiled-coil domain containing 114

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7878 (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 45924560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000147658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038720] [ENSMUST00000038876] [ENSMUST00000164119] [ENSMUST00000210039] [ENSMUST00000210297] [ENSMUST00000210602] [ENSMUST00000210867] [ENSMUST00000210939] [ENSMUST00000211367]

AlphaFold

Q3UX62

Predicted Effect

probably benign
Transcript: ENSMUST00000038720

SMART Domains

Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189

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: ENSMUST00000038876

SMART Domains

Protein: ENSMUSP00000037289
Gene: ENSMUSG00000040212

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	156	7.2e-47	PFAM
Pfam:Claudin_2	13	158	8.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164119

SMART Domains

Protein: ENSMUSP00000132519
Gene: ENSMUSG00000040212

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	156	7.2e-47	PFAM
Pfam:Claudin_2	13	158	8.8e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210039
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000210297

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210602
AA Change: E17G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000210867

Predicted Effect

probably benign
Transcript: ENSMUST00000210939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211367
AA Change: E17G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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
4932415D10Rik	G	A	10: 82,284,022	R4385W	probably benign	Het
Ahi1	G	A	10: 20,981,431		probably null	Het
Ak7	T	A	12: 105,766,749	I584N	probably damaging	Het
Akip1	A	T	7: 109,707,402	Y102F	probably damaging	Het
Alg9	T	C	9: 50,842,783	Y588H	probably benign	Het
Arid1a	A	T	4: 133,687,271	N831K	unknown	Het
Armc4	G	T	18: 7,217,801	H638N	probably benign	Het
Bcl2l11	T	A	2: 128,128,688	L19*	probably null	Het
Btn1a1	T	C	13: 23,459,044	T412A	possibly damaging	Het
Ccbe1	T	C	18: 66,076,391	N193D	possibly damaging	Het
Cd96	A	G	16: 46,117,776	S109P	probably damaging	Het
Cdh23	A	C	10: 60,314,200	I2622S	possibly damaging	Het
Cmya5	G	T	13: 93,089,757	T2941K	probably damaging	Het
Cntn1	T	C	15: 92,295,053	Y679H	probably damaging	Het
Cpsf1	A	G	15: 76,600,500	V619A	probably damaging	Het
Elp5	T	A	11: 69,970,599	I185F	probably damaging	Het
Frem1	A	G	4: 83,020,680	V55A	probably benign	Het
Gm8251	T	C	1: 44,056,014	S1975G	probably benign	Het
Kif1b	A	T	4: 149,214,997	Y985N	probably damaging	Het
Lao1	A	G	4: 118,967,422	N234D	probably benign	Het
Lima1	C	T	15: 99,819,550	V192I	probably benign	Het
Lrp2	T	G	2: 69,507,809	D1209A	probably damaging	Het
Lrp2	C	A	2: 69,507,810	D1209Y	probably damaging	Het
Luzp1	A	G	4: 136,541,852	H462R	probably benign	Het
Mab21l1	A	T	3: 55,784,017	T342S	probably benign	Het
Mst1	T	C	9: 108,084,613	V657A	probably benign	Het
Mtmr11	A	G	3: 96,169,199	K490R	probably benign	Het
Myh3	A	G	11: 67,087,251	D383G	probably damaging	Het
Nectin1	G	A	9: 43,803,901	G478D	probably benign	Het
Nrip1	A	G	16: 76,294,666	M1T	probably null	Het
Olfr338	A	G	2: 36,377,133	D119G	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,264	H182L	probably damaging	Het
Pnisr	C	A	4: 21,874,370	F704L	unknown	Het
Ptpn21	T	A	12: 98,715,128	K82N	probably damaging	Het
Pyroxd2	T	G	19: 42,742,665		probably null	Het
Pzp	A	G	6: 128,512,311	S446P	possibly damaging	Het
Rbck1	T	A	2: 152,318,410	I450F	probably damaging	Het
Rnase4	T	A	14: 51,104,876	L19Q	probably damaging	Het
Rrp9	A	G	9: 106,481,317	E118G	probably damaging	Het
Sec22a	A	G	16: 35,347,635	S169P	probably benign	Het
Sema5b	G	A	16: 35,661,626	S957N	probably benign	Het
Serpina3g	A	T	12: 104,238,102		probably benign	Het
Skint2	A	T	4: 112,649,745	I322F	possibly damaging	Het
Sspo	G	A	6: 48,492,526	C4471Y	probably damaging	Het
Stk16	T	A	1: 75,212,945	L167*	probably null	Het
Tanc2	G	A	11: 105,913,415	R245H		Het
Tdpoz1	G	A	3: 93,671,124	Q118*	probably null	Het
Tekt3	C	T	11: 63,070,451	R149*	probably null	Het
Tenm4	A	G	7: 96,852,357	E1256G	probably damaging	Het
Tie1	G	A	4: 118,478,424	R791C	probably damaging	Het
Tpr	T	A	1: 150,423,660	S1204T	possibly damaging	Het
Trim28	G	T	7: 13,024,362		probably benign	Het
Ucp1	A	G	8: 83,297,892	N282S	probably benign	Het
Unc80	T	A	1: 66,601,141	D1402E	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,790	T5S	probably benign	Het
Zfyve28	T	A	5: 34,199,655	K733M	probably 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
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'- GAGCGATATCCCAGTAGTCCTTG -3'
(R):5'- ACCACTCCTGAAGTCCAATGTC -3'

Sequencing Primer
(F):5'- ATATCCCAGTAGTCCTTGAAGGGTC -3'
(R):5'- TGAAGTCCAATGTCTGCCTAG -3'

Posted On

2019-12-20