Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:Ccdc39'

441125

Institutional Source

Beutler Lab

Gene Symbol

Ccdc39

Ensembl Gene

ENSMUSG00000027676

Gene Name

coiled-coil domain containing 39

Synonyms

b2b2025.1Clo, b2b1735Clo, 4921507O14Rik, D3Ertd789e, b2b1304Clo

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33812362-33844310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33825550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 456 (F456L)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029222]

AlphaFold

Q9D5Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029222
AA Change: F456L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: F456L

Domain	Start	End	E-Value	Type
coiled coil region	16	67	N/A	INTRINSIC
coiled coil region	164	198	N/A	INTRINSIC
coiled coil region	232	339	N/A	INTRINSIC
low complexity region	381	393	N/A	INTRINSIC
internal_repeat_1	569	603	1.19e-5	PROSPERO
internal_repeat_1	598	635	1.19e-5	PROSPERO
coiled coil region	664	704	N/A	INTRINSIC
coiled coil region	726	766	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC
low complexity region	915	928	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200551

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
PHENOTYPE: ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,776	S4467P	probably damaging	Het
Add1	C	A	5: 34,630,680	A691D	probably benign	Het
Agap3	C	A	5: 24,483,397	D394E	probably benign	Het
Arhgef11	T	C	3: 87,684,486	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,453,105	V402A	probably benign	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Bsn	A	T	9: 108,110,432		probably benign	Het
Camk1	A	G	6: 113,339,340	V81A	probably damaging	Het
Cass4	T	G	2: 172,416,245	C54W	probably damaging	Het
Cdc42bpa	A	G	1: 180,106,094	E766G	probably damaging	Het
Cdcp2	T	C	4: 107,105,142	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,285	E118K	probably damaging	Het
Col4a2	G	A	8: 11,441,281	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,452,464	T5A	probably benign	Het
Dlg5	T	A	14: 24,158,699	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,124,515	S405F	possibly damaging	Het
Drd2	A	G	9: 49,404,912	K324R	probably benign	Het
Ergic1	T	C	17: 26,614,358	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,196,512		probably benign	Het
Foxd2	C	T	4: 114,908,635	A63T	unknown	Het
Gfap	T	C	11: 102,891,456	I409M	probably benign	Het
Gfpt1	A	G	6: 87,042,999	M1V	probably null	Het
H2-T23	C	G	17: 36,031,803	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,428,741	R704W	probably damaging	Het
Kif19a	A	C	11: 114,779,654	D130A	probably damaging	Het
Lin7b	T	C	7: 45,369,193	D14G	probably damaging	Het
Meioc	T	A	11: 102,675,257	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,881,319	G68*	probably null	Het
Mitf	A	T	6: 98,013,694	I184F	probably damaging	Het
Mmp9	T	A	2: 164,949,050	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,169,910	H2768L	probably benign	Het
Myh2	A	T	11: 67,188,812	I1032F	probably benign	Het
Myo3b	T	C	2: 70,314,430	I1110T	probably damaging	Het
Nde1	T	C	16: 14,169,514	F8L	probably damaging	Het
Olfr1317	T	C	2: 112,142,683	V246A	possibly damaging	Het
Olfr202	C	T	16: 59,283,979	V173I	probably benign	Het
Olfr432	C	T	1: 174,051,287	Q305*	probably null	Het
Olfr447	A	G	6: 42,911,523		probably null	Het
Olfr550	A	C	7: 102,579,305	Y270S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,169,917	I244V	probably benign	Het
Olfr771	T	C	10: 129,160,837	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,726,770	H293R	probably benign	Het
Pde7a	A	T	3: 19,233,773	L244Q	probably damaging	Het
Pex14	T	C	4: 148,961,453	D340G	probably benign	Het
Pfkfb4	A	T	9: 109,008,421	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,405,951	G361W	probably damaging	Het
Prkcg	T	A	7: 3,329,081	M517K	probably damaging	Het
Prob1	A	T	18: 35,654,114	F362L	probably benign	Het
Rims4	C	T	2: 163,864,017	W232*	probably null	Het
Robo2	T	C	16: 73,961,819	D688G	probably damaging	Het
Sec24c	C	A	14: 20,679,573	A73E	probably benign	Het
Slc15a3	A	G	19: 10,843,210	N64D	probably benign	Het
Smg1	A	T	7: 118,212,559	N65K	probably benign	Het
Sptb	G	T	12: 76,587,441	D2165E	probably benign	Het
Sptbn5	A	T	2: 120,048,811		noncoding transcript	Het
Syt12	A	T	19: 4,456,541	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,659,708	V126A	probably benign	Het
Thbs3	T	C	3: 89,219,098	L242P	probably damaging	Het
Timp2	A	T	11: 118,317,532		probably null	Het
Tmtc1	G	A	6: 148,246,831	A751V	probably damaging	Het
Tnni2	A	T	7: 142,443,913	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,244,070	P319L	probably damaging	Het
Ttc6	A	T	12: 57,576,019	K68M	probably damaging	Het
Usp25	G	A	16: 77,050,472	R156Q	probably benign	Het
Vill	A	T	9: 119,071,162	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,009,224	T4S	probably benign	Het
Vmn2r76	C	A	7: 86,226,053	C572F	probably damaging	Het
Vps26a	A	C	10: 62,468,298	N181K	probably damaging	Het
Xirp2	T	C	2: 67,510,790	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,423,763	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526	D144G	probably benign	Het
Zfp600	T	C	4: 146,195,100	S113P	probably damaging	Het
Zfp84	C	T	7: 29,776,393	T170M	probably benign	Het
Zmiz2	T	A	11: 6,402,837	D654E	probably damaging	Het
Zswim4	A	T	8: 84,231,110		probably null	Het

Other mutations in Ccdc39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Ccdc39	APN	3	33832568	missense	probably benign	0.16
IGL02321:Ccdc39	APN	3	33816958	unclassified	probably benign
IGL02426:Ccdc39	APN	3	33825398	missense	possibly damaging	0.85
IGL02930:Ccdc39	APN	3	33825494	missense	probably damaging	1.00
IGL03027:Ccdc39	APN	3	33830118	missense	probably benign	0.06
IGL03347:Ccdc39	APN	3	33837843	missense	probably damaging	1.00
R0046:Ccdc39	UTSW	3	33844152	missense	possibly damaging	0.52
R0046:Ccdc39	UTSW	3	33844152	missense	possibly damaging	0.52
R0601:Ccdc39	UTSW	3	33819839	missense	probably damaging	0.99
R0975:Ccdc39	UTSW	3	33844125	missense	probably damaging	1.00
R1075:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1224:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1251:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1252:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1254:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1255:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1331:Ccdc39	UTSW	3	33815485	missense	probably benign	0.34
R1370:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1385:Ccdc39	UTSW	3	33821412	missense	probably damaging	0.99
R1416:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1491:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1513:Ccdc39	UTSW	3	33839145	missense	possibly damaging	0.60
R1769:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1965:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1966:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R2061:Ccdc39	UTSW	3	33819896	missense	probably damaging	0.97
R2109:Ccdc39	UTSW	3	33815501	missense	probably damaging	0.97
R2183:Ccdc39	UTSW	3	33821432	missense	possibly damaging	0.46
R2207:Ccdc39	UTSW	3	33836733	missense	probably damaging	0.97
R2208:Ccdc39	UTSW	3	33841178	missense	probably damaging	0.99
R2267:Ccdc39	UTSW	3	33815484	missense	probably damaging	0.99
R3012:Ccdc39	UTSW	3	33814668	missense	probably damaging	1.00
R3013:Ccdc39	UTSW	3	33814668	missense	probably damaging	1.00
R3120:Ccdc39	UTSW	3	33837838	missense	probably damaging	1.00
R3415:Ccdc39	UTSW	3	33814497	missense	probably benign	0.02
R3802:Ccdc39	UTSW	3	33819895	missense	probably damaging	1.00
R3804:Ccdc39	UTSW	3	33819895	missense	probably damaging	1.00
R4107:Ccdc39	UTSW	3	33825479	missense	probably damaging	1.00
R4334:Ccdc39	UTSW	3	33837882	missense	probably damaging	1.00
R4367:Ccdc39	UTSW	3	33826522	missense	probably benign	0.01
R4462:Ccdc39	UTSW	3	33814668	missense	probably damaging	1.00
R4653:Ccdc39	UTSW	3	33819806	critical splice donor site	probably null
R4723:Ccdc39	UTSW	3	33813078	missense	possibly damaging	0.66
R4908:Ccdc39	UTSW	3	33839093	splice site	probably null
R5236:Ccdc39	UTSW	3	33830102	missense	probably damaging	1.00
R5705:Ccdc39	UTSW	3	33816937	missense	probably damaging	1.00
R5739:Ccdc39	UTSW	3	33826561	missense	possibly damaging	0.95
R6130:Ccdc39	UTSW	3	33841192	splice site	probably null
R6375:Ccdc39	UTSW	3	33814367	missense	probably benign	0.38
R6548:Ccdc39	UTSW	3	33837959	missense	probably benign	0.03
R6709:Ccdc39	UTSW	3	33830093	missense	possibly damaging	0.52
R6858:Ccdc39	UTSW	3	33819868	missense	probably damaging	1.00
R7183:Ccdc39	UTSW	3	33814471	missense	probably damaging	1.00
R7269:Ccdc39	UTSW	3	33830105	missense	probably benign	0.00
R7348:Ccdc39	UTSW	3	33832676	missense	possibly damaging	0.55
R7645:Ccdc39	UTSW	3	33825169	splice site	probably null
R7695:Ccdc39	UTSW	3	33814519	missense	probably damaging	1.00
R7752:Ccdc39	UTSW	3	33832617	missense	possibly damaging	0.55
R8487:Ccdc39	UTSW	3	33832659	nonsense	probably null
R8523:Ccdc39	UTSW	3	33815411	critical splice donor site	probably null
R8525:Ccdc39	UTSW	3	33814704	missense	probably benign	0.00
R8777:Ccdc39	UTSW	3	33839133	missense	probably benign
R8777-TAIL:Ccdc39	UTSW	3	33839133	missense	probably benign
R8842:Ccdc39	UTSW	3	33826463	missense	probably damaging	1.00
R8932:Ccdc39	UTSW	3	33830125	missense	probably benign	0.00
R8947:Ccdc39	UTSW	3	33815460	unclassified	probably benign
R9207:Ccdc39	UTSW	3	33832557	nonsense	probably null
R9280:Ccdc39	UTSW	3	33816004	missense	probably damaging	0.98
R9462:Ccdc39	UTSW	3	33814370	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACATAGGGACCGTGTGGAAC -3'
(R):5'- TGTTGCTCCCCTTAGGCTAG -3'

Sequencing Primer
(F):5'- TGTGGAACCCGCATCAGGAG -3'
(R):5'- CCCCTTAGGCTAGGAAGAATTTTATC -3'

Posted On

2016-11-08