Mutagenetix > Incidental Mutation

Incidental Mutation 'R1255:Ccdc39'

151405

Institutional Source

Beutler Lab

Gene Symbol

Ccdc39

Ensembl Gene

ENSMUSG00000027676

Gene Name

coiled-coil domain containing 39

Synonyms

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

MMRRC Submission

039322-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R1255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33866511-33898459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33880629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 446 (K446R)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

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

AlphaFold

Q9D5Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029222
AA Change: K446R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: K446R

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

Meta Mutation Damage Score

0.1563

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,016 (GRCm39)	S21C	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acsf3	T	C	8: 123,512,705 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,965 (GRCm39)		probably null	Het
Antxr2	A	T	5: 98,123,231 (GRCm39)	I272N	probably benign	Het
Asphd2	A	C	5: 112,539,677 (GRCm39)	V52G	probably damaging	Het
Atxn3	T	A	12: 101,900,593 (GRCm39)	Q230L	probably damaging	Het
Bltp3b	T	C	10: 89,581,132 (GRCm39)	I9T	probably damaging	Het
Ciz1	T	A	2: 32,255,888 (GRCm39)		probably null	Het
Dennd5b	A	T	6: 148,943,148 (GRCm39)	M576K	possibly damaging	Het
Ebf3	C	T	7: 136,826,941 (GRCm39)	V315I	probably benign	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Gimap1	T	A	6: 48,719,940 (GRCm39)	V184E	probably benign	Het
Gtf2f1	A	G	17: 57,317,982 (GRCm39)	V18A	probably damaging	Het
Kcnn3	A	T	3: 89,559,416 (GRCm39)	D562V	possibly damaging	Het
Kif20b	A	G	19: 34,927,506 (GRCm39)	T883A	probably benign	Het
Kmt2c	A	T	5: 25,556,151 (GRCm39)	L1198Q	probably damaging	Het
Nipal2	T	C	15: 34,584,828 (GRCm39)	I247V	probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Rad51ap2	G	T	12: 11,508,095 (GRCm39)	K672N	possibly damaging	Het
Rbm28	C	T	6: 29,158,246 (GRCm39)	G155D	probably damaging	Het
Sema6a	A	T	18: 47,382,366 (GRCm39)	M701K	probably damaging	Het
Slc47a1	A	T	11: 61,260,974 (GRCm39)	L142Q	probably damaging	Het
Snx25	A	T	8: 46,569,275 (GRCm39)	N207K	probably benign	Het
Son	T	A	16: 91,461,583 (GRCm39)	V205E	probably damaging	Het
Spz1	C	A	13: 92,712,138 (GRCm39)	V113F	probably benign	Het
Tcn2	T	C	11: 3,872,120 (GRCm39)	T336A	probably benign	Het
Tln1	T	C	4: 43,538,044 (GRCm39)	D1852G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp729a	T	C	13: 67,769,965 (GRCm39)	E88G	probably benign	Het

Other mutations in Ccdc39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Ccdc39	APN	3	33,886,717 (GRCm39)	missense	probably benign	0.16
IGL02321:Ccdc39	APN	3	33,871,107 (GRCm39)	unclassified	probably benign
IGL02426:Ccdc39	APN	3	33,879,547 (GRCm39)	missense	possibly damaging	0.85
IGL02930:Ccdc39	APN	3	33,879,643 (GRCm39)	missense	probably damaging	1.00
IGL03027:Ccdc39	APN	3	33,884,267 (GRCm39)	missense	probably benign	0.06
IGL03347:Ccdc39	APN	3	33,891,992 (GRCm39)	missense	probably damaging	1.00
R0046:Ccdc39	UTSW	3	33,898,301 (GRCm39)	missense	possibly damaging	0.52
R0046:Ccdc39	UTSW	3	33,898,301 (GRCm39)	missense	possibly damaging	0.52
R0601:Ccdc39	UTSW	3	33,873,988 (GRCm39)	missense	probably damaging	0.99
R0975:Ccdc39	UTSW	3	33,898,274 (GRCm39)	missense	probably damaging	1.00
R1075:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1224:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1251:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1252:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1254:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1331:Ccdc39	UTSW	3	33,869,634 (GRCm39)	missense	probably benign	0.34
R1370:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1385:Ccdc39	UTSW	3	33,875,561 (GRCm39)	missense	probably damaging	0.99
R1416:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1491:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1513:Ccdc39	UTSW	3	33,893,294 (GRCm39)	missense	possibly damaging	0.60
R1769:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1965:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R1966:Ccdc39	UTSW	3	33,880,629 (GRCm39)	missense	probably damaging	0.99
R2061:Ccdc39	UTSW	3	33,874,045 (GRCm39)	missense	probably damaging	0.97
R2109:Ccdc39	UTSW	3	33,869,650 (GRCm39)	missense	probably damaging	0.97
R2183:Ccdc39	UTSW	3	33,875,581 (GRCm39)	missense	possibly damaging	0.46
R2207:Ccdc39	UTSW	3	33,890,882 (GRCm39)	missense	probably damaging	0.97
R2208:Ccdc39	UTSW	3	33,895,327 (GRCm39)	missense	probably damaging	0.99
R2267:Ccdc39	UTSW	3	33,869,633 (GRCm39)	missense	probably damaging	0.99
R3012:Ccdc39	UTSW	3	33,868,817 (GRCm39)	missense	probably damaging	1.00
R3013:Ccdc39	UTSW	3	33,868,817 (GRCm39)	missense	probably damaging	1.00
R3120:Ccdc39	UTSW	3	33,891,987 (GRCm39)	missense	probably damaging	1.00
R3415:Ccdc39	UTSW	3	33,868,646 (GRCm39)	missense	probably benign	0.02
R3802:Ccdc39	UTSW	3	33,874,044 (GRCm39)	missense	probably damaging	1.00
R3804:Ccdc39	UTSW	3	33,874,044 (GRCm39)	missense	probably damaging	1.00
R4107:Ccdc39	UTSW	3	33,879,628 (GRCm39)	missense	probably damaging	1.00
R4334:Ccdc39	UTSW	3	33,892,031 (GRCm39)	missense	probably damaging	1.00
R4367:Ccdc39	UTSW	3	33,880,671 (GRCm39)	missense	probably benign	0.01
R4462:Ccdc39	UTSW	3	33,868,817 (GRCm39)	missense	probably damaging	1.00
R4653:Ccdc39	UTSW	3	33,873,955 (GRCm39)	critical splice donor site	probably null
R4723:Ccdc39	UTSW	3	33,867,227 (GRCm39)	missense	possibly damaging	0.66
R4908:Ccdc39	UTSW	3	33,893,242 (GRCm39)	splice site	probably null
R5236:Ccdc39	UTSW	3	33,884,251 (GRCm39)	missense	probably damaging	1.00
R5646:Ccdc39	UTSW	3	33,879,699 (GRCm39)	missense	probably damaging	1.00
R5705:Ccdc39	UTSW	3	33,871,086 (GRCm39)	missense	probably damaging	1.00
R5739:Ccdc39	UTSW	3	33,880,710 (GRCm39)	missense	possibly damaging	0.95
R6130:Ccdc39	UTSW	3	33,895,341 (GRCm39)	splice site	probably null
R6375:Ccdc39	UTSW	3	33,868,516 (GRCm39)	missense	probably benign	0.38
R6548:Ccdc39	UTSW	3	33,892,108 (GRCm39)	missense	probably benign	0.03
R6709:Ccdc39	UTSW	3	33,884,242 (GRCm39)	missense	possibly damaging	0.52
R6858:Ccdc39	UTSW	3	33,874,017 (GRCm39)	missense	probably damaging	1.00
R7183:Ccdc39	UTSW	3	33,868,620 (GRCm39)	missense	probably damaging	1.00
R7269:Ccdc39	UTSW	3	33,884,254 (GRCm39)	missense	probably benign	0.00
R7348:Ccdc39	UTSW	3	33,886,825 (GRCm39)	missense	possibly damaging	0.55
R7645:Ccdc39	UTSW	3	33,879,318 (GRCm39)	splice site	probably null
R7695:Ccdc39	UTSW	3	33,868,668 (GRCm39)	missense	probably damaging	1.00
R7752:Ccdc39	UTSW	3	33,886,766 (GRCm39)	missense	possibly damaging	0.55
R8487:Ccdc39	UTSW	3	33,886,808 (GRCm39)	nonsense	probably null
R8523:Ccdc39	UTSW	3	33,869,560 (GRCm39)	critical splice donor site	probably null
R8525:Ccdc39	UTSW	3	33,868,853 (GRCm39)	missense	probably benign	0.00
R8777:Ccdc39	UTSW	3	33,893,282 (GRCm39)	missense	probably benign
R8777-TAIL:Ccdc39	UTSW	3	33,893,282 (GRCm39)	missense	probably benign
R8842:Ccdc39	UTSW	3	33,880,612 (GRCm39)	missense	probably damaging	1.00
R8932:Ccdc39	UTSW	3	33,884,274 (GRCm39)	missense	probably benign	0.00
R8947:Ccdc39	UTSW	3	33,869,609 (GRCm39)	unclassified	probably benign
R9207:Ccdc39	UTSW	3	33,886,706 (GRCm39)	nonsense	probably null
R9280:Ccdc39	UTSW	3	33,870,153 (GRCm39)	missense	probably damaging	0.98
R9462:Ccdc39	UTSW	3	33,868,519 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCCAGGTCCTTTAACACACAGTC -3'
(R):5'- TGCCAACCTTGTCTACCAGCAC -3'

Sequencing Primer
(F):5'- ACAGTAGTAGCTTTTAAGACCCTCTC -3'
(R):5'- TTGTCTACCAGCACTGGAGATAAG -3'

Posted On

2014-01-29