Mutagenetix > Incidental Mutations

Incidental Mutation 'R1331:Ccdc39'

156177

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

039396-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R1331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33812362-33844310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33815485 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 731 (E731G)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029222] [ENSMUST00000099153] [ENSMUST00000117915]

Predicted Effect

probably benign
Transcript: ENSMUST00000029222
AA Change: E731G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: E731G

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

probably benign
Transcript: ENSMUST00000099153

SMART Domains

Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
TPR	306	339	6.19e-1	SMART
TPR	340	373	2.11e-3	SMART
TPR	381	414	1.88e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117915

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
TPR	254	287	6.19e-1	SMART
TPR	288	321	2.11e-3	SMART
TPR	329	362	1.88e0	SMART
coiled coil region	363	424	N/A	INTRINSIC
low complexity region	565	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200536

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,882,376		probably null	Het
Acat1	T	C	9: 53,584,883	D318G	probably benign	Het
Ahdc1	T	C	4: 133,063,691	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916		probably null	Het
Arhgef26	A	G	3: 62,340,028	T178A	probably benign	Het
Bid	C	T	6: 120,897,255	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359	V509A	possibly damaging	Het
Cenpf	A	G	1: 189,642,801	V2931A	probably damaging	Het
Cobl	A	T	11: 12,375,853	N207K	probably damaging	Het
Col14a1	T	A	15: 55,410,188	W718R	unknown	Het
D430042O09Rik	A	G	7: 125,866,455	T1360A	probably benign	Het
Dnah7a	A	G	1: 53,468,669	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,649,264	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,366,534		probably benign	Het
Eri3	T	C	4: 117,564,907		probably benign	Het
Fbxo24	A	G	5: 137,619,629	V291A	probably damaging	Het
Glra1	A	C	11: 55,515,070	S282A	probably benign	Het
Gm7589	C	A	9: 59,146,042		noncoding transcript	Het
H6pd	T	C	4: 149,982,415	N505D	probably benign	Het
Hdlbp	T	A	1: 93,421,131	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,692,820	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,478	V120D	probably damaging	Het
Loxhd1	C	T	18: 77,402,936	P1411S	possibly damaging	Het
Lpl	A	G	8: 68,896,629	E269G	probably damaging	Het
Map1a	G	T	2: 121,306,220	E2268*	probably null	Het
Mark1	T	C	1: 184,928,048	E137G	probably damaging	Het
Mki67	A	T	7: 135,698,276	S1676R	possibly damaging	Het
Mogat2	T	C	7: 99,223,515	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,841,579	I859M	probably benign	Het
Myo7a	A	G	7: 98,107,008	V39A	probably benign	Het
Nedd4	T	A	9: 72,677,386	I123N	probably damaging	Het
Obscn	A	G	11: 59,086,928	V1966A	probably benign	Het
Olfr853	T	C	9: 19,537,546	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748	N77T	probably benign	Het
Penk	A	G	4: 4,134,287	M120T	probably benign	Het
Phf7	G	A	14: 31,240,405	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,505,547	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,589,597	R3973C	probably damaging	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Ptprb	A	T	10: 116,367,532	T2070S	probably damaging	Het
Ralgapb	T	C	2: 158,430,533	F169S	probably damaging	Het
Rapgef5	G	T	12: 117,721,349	A278S	probably benign	Het
Ripor2	G	T	13: 24,677,841	E203*	probably null	Het
Setx	T	C	2: 29,179,686	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,577,631		probably benign	Het
Slc35b1	T	A	11: 95,385,863	V56D	probably damaging	Het
Slc45a4	C	T	15: 73,586,747	D326N	probably benign	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stat4	T	A	1: 52,013,927	V89D	probably benign	Het
Tek	T	A	4: 94,739,706		probably benign	Het
Tert	T	A	13: 73,648,354	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,310,354	I205K	probably damaging	Het
Vmn1r212	A	T	13: 22,883,392	I257K	probably benign	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
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	synonymous	probably null
R5236:Ccdc39	UTSW	3	33830102	missense	probably damaging	1.00
R5646:Ccdc39	UTSW	3	33825550	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
R7695:Ccdc39	UTSW	3	33814519	missense	probably damaging	1.00
R7752:Ccdc39	UTSW	3	33832617	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CGTGAGATCACTGAGTGATGGTGAG -3'
(R):5'- TGACTCCGTCAAGTAGGTAGCAGC -3'

Sequencing Primer
(F):5'- TGCCTCTCAGCCATAGAATTGTAAC -3'
(R):5'- TCAAGTAGGTAGCAGCCATTAC -3'

Posted On

2014-02-11