Mutagenetix > Incidental Mutation

Incidental Mutation 'R5236:Ccdc39'

398353

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

044393-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

R5236 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33812362-33844310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33830102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 364 (T364A)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

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

AlphaFold

Q9D5Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029222
AA Change: T364A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: T364A

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	A	9: 101,942,921	I180N	possibly damaging	Het
Actl9	T	C	17: 33,434,099	S378P	probably damaging	Het
Agrn	A	T	4: 156,178,858	C263S	possibly damaging	Het
Ahnak	A	G	19: 9,000,684	I56V	possibly damaging	Het
Arid4b	A	G	13: 14,126,449		probably null	Het
BC067074	A	G	13: 113,366,220	Y153C	probably benign	Het
Bin2	T	C	15: 100,662,534	N49D	probably damaging	Het
Cdcp1	A	T	9: 123,185,193	V172D	probably damaging	Het
Cdh23	A	G	10: 60,312,572	L2670P	probably damaging	Het
Cmtm4	G	C	8: 104,357,746	F105L	probably damaging	Het
Ctsa	G	A	2: 164,838,911	V453M	probably damaging	Het
Cyp3a59	A	G	5: 146,102,825	I303V	probably benign	Het
Cyp4f17	T	C	17: 32,520,632		probably null	Het
Dst	C	T	1: 34,164,417	R447C	probably damaging	Het
E2f7	C	T	10: 110,767,209	P362S	probably damaging	Het
Fbxw9	A	G	8: 85,066,345	T407A	probably damaging	Het
Fyb2	T	C	4: 104,948,760	S346P	probably benign	Het
Git2	T	A	5: 114,767,172	I75L	probably damaging	Het
H2-DMa	T	A	17: 34,137,939	L137Q	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrg	T	C	16: 22,961,513		probably benign	Het
Htr7	A	T	19: 36,056,769	I162N	probably damaging	Het
Itpripl1	A	T	2: 127,141,850	F117L	probably damaging	Het
Kri1	T	C	9: 21,275,941	Y392C	probably damaging	Het
Krt27	A	C	11: 99,350,815	S87A	possibly damaging	Het
Lama1	T	C	17: 67,804,492	V2246A	probably benign	Het
Lcn2	A	T	2: 32,385,961	M119K	probably benign	Het
Lrp2	T	C	2: 69,456,819		probably null	Het
Lrp6	T	C	6: 134,511,264	N290D	probably damaging	Het
Macf1	T	C	4: 123,397,821	E2517G	probably damaging	Het
Melk	G	A	4: 44,344,959	C363Y	probably benign	Het
Mettl22	T	A	16: 8,488,733	L351*	probably null	Het
Mms22l	A	G	4: 24,588,347	Q953R	probably benign	Het
Ndufaf7	T	C	17: 78,939,631	S107P	probably benign	Het
Olfr446	A	C	6: 42,927,781	R183S	probably benign	Het
Olfr459	C	A	6: 41,772,111	G63C	probably benign	Het
Opa3	A	G	7: 19,244,757	Y49C	probably damaging	Het
Pabpn1	T	A	14: 54,894,942	M145K	possibly damaging	Het
Plce1	A	C	19: 38,770,347	M1982L	probably benign	Het
Ppcdc	A	C	9: 57,414,654	I201S	probably benign	Het
Rag2	A	T	2: 101,629,660	D105V	probably damaging	Het
Rnf130	C	T	11: 50,095,978	T383I	probably damaging	Het
Sgip1	T	G	4: 102,927,587		probably null	Het
Slc23a2	T	A	2: 132,075,584	I245F	probably damaging	Het
Slc4a9	A	G	18: 36,530,847	Y308C	probably benign	Het
Slc7a15	C	T	12: 8,539,005	V181M	probably benign	Het
Sprr2b	G	A	3: 92,317,636	C63Y	unknown	Het
Stpg2	A	T	3: 139,232,223	Y181F	probably damaging	Het
Sult2a5	A	T	7: 13,665,049	T194S	probably benign	Het
Tbx15	A	T	3: 99,352,046	Q411L	possibly damaging	Het
Tln2	T	A	9: 67,365,923	E427V	probably damaging	Het
Trpv4	A	C	5: 114,622,795	V825G	possibly damaging	Het
Trrap	A	G	5: 144,817,786	I1968V	probably benign	Het
Ttn	G	A	2: 76,788,802	L16078F	probably damaging	Het
Unc45b	T	A	11: 82,915,062	F132I	possibly damaging	Het
Unc79	T	A	12: 103,094,395		probably null	Het
Vmn2r71	A	T	7: 85,623,669	N564Y	probably damaging	Het
Zfp638	G	T	6: 83,976,575	E1221*	probably null	Het
Zfp934	A	T	13: 62,517,713	H371Q	probably damaging	Het
Zranb3	A	G	1: 128,040,989	L63P	probably damaging	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
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
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'- AGGGCCCTTTGAAGCTTCAC -3'
(R):5'- CATTATCAAGCTCCAGATCTTCTTG -3'

Sequencing Primer
(F):5'- GAAGCTTCACAGTGCTCTAATTC -3'
(R):5'- TTTTCATCAGAGAGGCTCAGAG -3'

Posted On

2016-07-06