Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777:Ccdc39'

664726

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R8777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33812362-33844310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33839133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 101 (T101I)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

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

AlphaFold

Q9D5Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000029222
AA Change: T101I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: T101I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,510,427	I1621R	probably damaging	Het
Abcb4	A	T	5: 8,939,894	T816S	probably benign	Het
Aff4	G	A	11: 53,399,956	S581N	probably damaging	Het
Aimp2	G	A	5: 143,903,007	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,116,548	S35A	probably benign	Het
Atp1a4	A	T	1: 172,232,302	Y787N	probably damaging	Het
Ccdc169	T	C	3: 55,150,913	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,813,361	S108F	probably damaging	Het
Cdh13	G	T	8: 119,236,967		probably null	Het
Clec1b	A	T	6: 129,403,574	E151V	probably benign	Het
Cplx1	T	A	5: 108,525,569		probably null	Het
Diablo	T	A	5: 123,517,927	I150F	unknown	Het
Esp31	T	C	17: 38,644,691	V75A	probably benign	Het
Gm49336	G	A	14: 60,228,736	L458F	probably damaging	Het
Gm6502	A	G	5: 94,317,168	D471G	probably benign	Het
Grin3b	A	T	10: 79,973,138	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,750,471	N182S	probably damaging	Het
Hephl1	T	G	9: 15,060,794	D950A	probably benign	Het
Hkdc1	A	G	10: 62,398,833	I556T	possibly damaging	Het
Ints4	C	A	7: 97,485,020	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,742,713	V124A	possibly damaging	Het
Lrpprc	T	A	17: 84,751,229	Q734H	probably benign	Het
Map1b	T	C	13: 99,430,796	T1806A	unknown	Het
Mcmbp	A	T	7: 128,707,131	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,243,356	G422S	probably damaging	Het
Mgam	A	G	6: 40,655,251	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422	G200S	probably benign	Het
Myh13	A	T	11: 67,361,335	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,192,572	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,729,106	V70I	probably benign	Het
Myof	A	G	19: 37,980,393	V358A	probably benign	Het
Ncor1	T	A	11: 62,433,666	I48F	probably benign	Het
Ncor1	T	A	11: 62,433,668	H47L	probably damaging	Het
Neurog2	G	T	3: 127,634,093	R122L	probably damaging	Het
Npdc1	T	A	2: 25,408,117	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,260,464	N290D	probably damaging	Het
Nynrin	T	C	14: 55,871,663	M1409T	probably benign	Het
Oas1h	T	C	5: 120,867,044	L185P	probably damaging	Het
Olfr248	A	T	1: 174,391,282	Y71F	probably damaging	Het
Olfr30	C	T	11: 58,455,931	W6*	probably null	Het
Olfr788	T	A	10: 129,473,505	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,293,113	N853K	probably benign	Het
Papd7	T	A	13: 69,510,705	D337V	probably damaging	Het
Pcsk4	G	T	10: 80,323,723	P405Q	probably benign	Het
Piwil4	A	C	9: 14,739,389		probably null	Het
Pkhd1l1	T	C	15: 44,498,571	Y547H	probably damaging	Het
Rft1	T	C	14: 30,660,199	L51P	probably damaging	Het
Rufy2	T	G	10: 62,997,881	L241V	possibly damaging	Het
Slc5a5	T	C	8: 70,891,290	I155V	possibly damaging	Het
Slc7a2	T	G	8: 40,898,954	M18R	probably damaging	Het
Snapc4	A	G	2: 26,369,363	S592P	probably benign	Het
Strn4	T	C	7: 16,816,608	W86R	probably damaging	Het
Tenm4	A	G	7: 96,896,037	N2457S	probably damaging	Het
Timd4	C	A	11: 46,815,482	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,577,839	N172K	probably damaging	Het
Trrap	T	A	5: 144,837,139	V2855D	probably benign	Het
Tubb6	A	T	18: 67,401,528	T166S	probably damaging	Het
Tufm	A	G	7: 126,488,862	Y179C	probably benign	Het
Ube2r2	C	T	4: 41,190,715	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,240,546	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,340,365	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,192,693	F485L	probably benign	Het
Zcchc6	T	C	13: 59,785,783	N1302D	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
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
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-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'- AAGCCACAACGCTGTCTTTTC -3'
(R):5'- AGATCCTACCCTGGTGGAGTTAAC -3'

Sequencing Primer
(F):5'- CACAACGCTGTCTTTTCATGGGG -3'
(R):5'- TCAATCTGAGCACTTGGGC -3'

Posted On

2021-03-08