Mutagenetix > Incidental Mutation

Incidental Mutation 'R7269:Ccdc39'

565125

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

045320-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.777) question?

Stock #

R7269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33866511-33898459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33884254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 363 (I363V)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

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

AlphaFold

Q9D5Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000029222
AA Change: I363V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: I363V

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	T	18: 24,606,013 (GRCm39)	N36I	probably damaging	Het
A430033K04Rik	T	A	5: 138,645,014 (GRCm39)	Y300N	possibly damaging	Het
Adipor2	T	C	6: 119,347,205 (GRCm39)	Q26R	probably benign	Het
Ahnak	T	A	19: 8,983,981 (GRCm39)	M1755K	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
AI837181	C	A	19: 5,476,462 (GRCm39)	S208R	probably damaging	Het
Arhgap35	T	G	7: 16,295,652 (GRCm39)	M1138L	probably benign	Het
Card14	T	G	11: 119,228,573 (GRCm39)	L633R	probably damaging	Het
Carmil3	A	G	14: 55,731,352 (GRCm39)	T144A	probably benign	Het
Cbfa2t2	T	A	2: 154,357,895 (GRCm39)	N223K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccpg1	G	T	9: 72,920,609 (GRCm39)	R741S	probably benign	Het
Cenpc1	A	G	5: 86,161,366 (GRCm39)	F855L	probably damaging	Het
Cenpc1	A	T	5: 86,180,277 (GRCm39)	M665K	probably benign	Het
Cp	A	G	3: 20,037,641 (GRCm39)	H832R	probably damaging	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dlc1	A	C	8: 37,046,407 (GRCm39)	L730R	probably damaging	Het
Dmbt1	A	T	7: 130,668,351 (GRCm39)	I536F	unknown	Het
Dscam	G	A	16: 96,479,601 (GRCm39)	T1182I	probably benign	Het
Eea1	A	T	10: 95,854,000 (GRCm39)	I553F	probably damaging	Het
Far1	T	C	7: 113,160,654 (GRCm39)	V400A	probably benign	Het
Fbrsl1	A	T	5: 110,580,880 (GRCm39)	S126T	probably benign	Het
Frmpd2	A	T	14: 33,244,838 (GRCm39)	E552V	possibly damaging	Het
Gm5431	T	A	11: 48,779,237 (GRCm39)	T562S	probably benign	Het
Gm5475	T	C	15: 100,324,890 (GRCm39)	F106S	unknown	Het
Gpr12	T	C	5: 146,520,188 (GRCm39)	T245A	probably damaging	Het
Gsta2	A	G	9: 78,239,419 (GRCm39)	Y166H	probably benign	Het
H6pd	A	G	4: 150,067,369 (GRCm39)	V347A	probably benign	Het
Ifih1	T	C	2: 62,475,977 (GRCm39)	T100A	probably benign	Het
Ift70b	A	G	2: 75,767,838 (GRCm39)	F305S	probably damaging	Het
Itga2	C	T	13: 115,023,225 (GRCm39)	W59*	probably null	Het
Knstrn	T	A	2: 118,661,869 (GRCm39)		probably null	Het
Kprp	A	G	3: 92,731,178 (GRCm39)	V624A	probably damaging	Het
Lmbrd2	A	G	15: 9,194,771 (GRCm39)	Y591C	probably damaging	Het
Map7d1	A	G	4: 126,126,666 (GRCm39)	V842A	unknown	Het
Mboat2	A	T	12: 24,881,708 (GRCm39)	T4S	probably benign	Het
Mcph1	T	A	8: 18,657,288 (GRCm39)		probably null	Het
Mrtfb	A	T	16: 13,218,898 (GRCm39)	M515L	possibly damaging	Het
Muc5b	A	G	7: 141,411,272 (GRCm39)	D1406G	unknown	Het
Mylk	G	A	16: 34,605,381 (GRCm39)	G3D	probably damaging	Het
Ndst4	A	G	3: 125,232,007 (GRCm39)	D192G	probably damaging	Het
Nemp1	G	T	10: 127,531,345 (GRCm39)	R361L	probably damaging	Het
Nol4	A	C	18: 23,172,846 (GRCm39)	V85G	probably benign	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Obscn	T	C	11: 58,933,838 (GRCm39)	E5342G	probably damaging	Het
Or10al7	C	A	17: 38,366,442 (GRCm39)	C5F	probably damaging	Het
Or4f47	T	A	2: 111,972,905 (GRCm39)	F205Y	probably damaging	Het
Or4p19	C	T	2: 88,242,839 (GRCm39)	M54I	possibly damaging	Het
Or51d1	T	G	7: 102,348,252 (GRCm39)	L269R	probably damaging	Het
Or7d10	A	G	9: 19,831,631 (GRCm39)	N42S	possibly damaging	Het
Pakap	G	T	4: 57,855,217 (GRCm39)	R182L	probably damaging	Het
Pde4dip	A	G	3: 97,674,275 (GRCm39)	S214P	probably damaging	Het
Per3	A	T	4: 151,116,393 (GRCm39)	C278*	probably null	Het
Pi4k2a	T	C	19: 42,079,125 (GRCm39)	L62P	probably damaging	Het
Plekha7	C	A	7: 115,780,447 (GRCm39)	G126W	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,353 (GRCm39)	K567E	probably damaging	Het
Pradc1	T	A	6: 85,424,548 (GRCm39)	Q134L	probably benign	Het
Pwp2	A	G	10: 78,012,170 (GRCm39)	F628L	probably benign	Het
Rab5c	C	T	11: 100,606,928 (GRCm39)	G217D	probably benign	Het
Rad51ap2	G	T	12: 11,506,807 (GRCm39)	S243I	possibly damaging	Het
Rasgrp4	C	A	7: 28,847,855 (GRCm39)	R432S	probably damaging	Het
Rhot2	C	T	17: 26,061,402 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,113 (GRCm39)	L1654Q	probably damaging	Het
Skint6	A	T	4: 112,711,686 (GRCm39)		probably null	Het
Slc22a28	T	A	19: 8,094,491 (GRCm39)	T177S	probably benign	Het
Slc25a24	G	T	3: 109,065,960 (GRCm39)	Q272H	probably null	Het
Slc3a1	A	T	17: 85,339,873 (GRCm39)	I144F	probably damaging	Het
Smg9	C	T	7: 24,105,495 (GRCm39)	R176C	possibly damaging	Het
Sorl1	A	T	9: 41,948,499 (GRCm39)	L762Q	probably damaging	Het
Srebf2	C	A	15: 82,088,270 (GRCm39)	P1079T	probably benign	Het
Sub1	A	T	15: 11,993,937 (GRCm39)	S4T	probably benign	Het
Tacr1	A	T	6: 82,469,692 (GRCm39)	Y192F	probably benign	Het
Tm4sf19	A	T	16: 32,224,814 (GRCm39)	H54L	probably damaging	Het
Tnxb	T	C	17: 34,914,428 (GRCm39)	L1838P	probably damaging	Het
Trmt1l	T	C	1: 151,333,539 (GRCm39)	S681P	possibly damaging	Het
Ttn	A	G	2: 76,738,176 (GRCm39)	V4167A	unknown	Het
Unc13d	T	A	11: 115,959,056 (GRCm39)	M702L	probably benign	Het
Vgll3	A	G	16: 65,636,404 (GRCm39)	H240R	probably benign	Het
Vmn1r189	C	G	13: 22,286,737 (GRCm39)	W33C	probably benign	Het
Vmn2r17	G	A	5: 109,576,337 (GRCm39)	A403T	possibly damaging	Het
Vmn2r2	G	A	3: 64,033,998 (GRCm39)	T508I	probably benign	Het
Vps54	T	A	11: 21,227,670 (GRCm39)		probably null	Het
Wfs1	G	A	5: 37,125,134 (GRCm39)	Q586*	probably null	Het
Zbp1	A	T	2: 173,055,665 (GRCm39)	H166Q	unknown	Het
Zcchc3	G	A	2: 152,256,294 (GRCm39)	A135V	probably benign	Het
Zfp51	T	C	17: 21,683,960 (GRCm39)	Y192H	probably benign	Het
Zkscan2	T	C	7: 123,088,994 (GRCm39)	T426A	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
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
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
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'- AAGCTTCACAGTGCTCTAATTCC -3'
(R):5'- TGCTCCATTATCAAGCTCCAGATC -3'

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

Posted On

2019-06-26