Mutagenetix > Incidental Mutation

Incidental Mutation 'R4462:Ccdc39'

330178

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R4462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33866511-33898459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33868817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 798 (R798Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029222] [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000117915] [ENSMUST00000199222]

AlphaFold

Q9D5Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029222
AA Change: R798Q

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

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: R798Q

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: ENSMUST00000108210

SMART Domains

Protein: ENSMUSP00000103845
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
coiled coil region	415	476	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000199222

SMART Domains

Protein: ENSMUSP00000142935
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

noncoding transcript
Transcript: ENSMUST00000200300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200536

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	T	6: 55,457,084 (GRCm39)	I272F	possibly damaging	Het
Adgrl3	C	T	5: 81,836,357 (GRCm39)	A705V	probably damaging	Het
Arhgef12	A	T	9: 42,893,278 (GRCm39)	V975E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Btnl6	A	G	17: 34,727,031 (GRCm39)	S500P	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cdon	T	C	9: 35,368,876 (GRCm39)	V34A	probably damaging	Het
Defa17	A	G	8: 22,146,553 (GRCm39)	R60G	probably benign	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fuca2	T	C	10: 13,378,979 (GRCm39)	V41A	probably damaging	Het
Ggt6	C	A	11: 72,328,654 (GRCm39)	H385N	possibly damaging	Het
Hgsnat	G	A	8: 26,444,664 (GRCm39)	T428I	probably damaging	Het
Nefh	A	G	11: 4,891,015 (GRCm39)	S535P	probably damaging	Het
Or2y6	T	A	11: 52,104,801 (GRCm39)	N5I	probably damaging	Het
Or8b1c	T	A	9: 38,384,360 (GRCm39)	F106I	probably benign	Het
Pkhd1l1	T	C	15: 44,445,200 (GRCm39)	F3691L	probably damaging	Het
Polr2a	T	C	11: 69,637,229 (GRCm39)	D282G	probably damaging	Het
Ranbp17	T	C	11: 33,167,421 (GRCm39)		probably null	Het
Slc13a2	T	C	11: 78,295,213 (GRCm39)	T187A	probably benign	Het
Slco3a1	A	C	7: 74,204,311 (GRCm39)	S10A	probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Trim38	A	G	13: 23,975,435 (GRCm39)	Y458C	probably null	Het
Ubr4	A	G	4: 139,145,813 (GRCm39)	M1537V	possibly damaging	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
R1255: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
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'- CGGAGCTGAATGTCCTGTTC -3'
(R):5'- GCAAATGGCAAGCAATAAGTCTTC -3'

Sequencing Primer
(F):5'- AGCTGAATGTCCTGTTCTTCTAGAG -3'
(R):5'- GGACACTTAGCAAATAATGCC -3'

Posted On

2015-07-21