Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Ccdc40'

350989

Institutional Source

Beutler Lab

Gene Symbol

Ccdc40

Ensembl Gene

ENSMUSG00000039963

Gene Name

coiled-coil domain containing 40

Synonyms

B930008I02Rik

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119228572-119265236 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119231532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 53 (R53S)

Ref Sequence

ENSEMBL: ENSMUSP00000062198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035935] [ENSMUST00000036113] [ENSMUST00000053440] [ENSMUST00000207655]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035935

SMART Domains

Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963

Domain	Start	End	E-Value	Type
internal_repeat_1	7	48	1.25e-8	PROSPERO
internal_repeat_1	55	96	1.25e-8	PROSPERO
low complexity region	159	170	N/A	INTRINSIC
low complexity region	208	232	N/A	INTRINSIC
coiled coil region	349	371	N/A	INTRINSIC
coiled coil region	423	447	N/A	INTRINSIC
Blast:HisKA	450	519	3e-13	BLAST
Blast:HisKA	574	629	5e-8	BLAST
low complexity region	793	805	N/A	INTRINSIC
Pfam:BRE1	830	928	4.2e-20	PFAM
coiled coil region	1044	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036113

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
Blast:TBC	63	362	5e-75	BLAST
Blast:TBC	373	418	2e-13	BLAST
TBC	421	659	4.39e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000053440
AA Change: R53S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: R53S

Domain	Start	End	E-Value	Type
low complexity region	5	27	N/A	INTRINSIC
low complexity region	56	70	N/A	INTRINSIC
internal_repeat_1	79	114	5.57e-8	PROSPERO
internal_repeat_1	111	150	5.57e-8	PROSPERO
low complexity region	229	240	N/A	INTRINSIC
low complexity region	278	302	N/A	INTRINSIC
coiled coil region	419	441	N/A	INTRINSIC
coiled coil region	493	517	N/A	INTRINSIC
Blast:HisKA	520	589	2e-13	BLAST
Blast:HisKA	644	699	4e-8	BLAST
low complexity region	863	875	N/A	INTRINSIC
Pfam:BRE1	900	998	4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150358

Predicted Effect

probably benign
Transcript: ENSMUST00000207655

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit heterotaxia, hydrocephalus, short embryonic cilia, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Ccdc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Ccdc40	APN	11	119242719	missense	possibly damaging	0.90
IGL01864:Ccdc40	APN	11	119243085	missense	probably benign	0.23
IGL01911:Ccdc40	APN	11	119231971	splice site	probably null
IGL02640:Ccdc40	APN	11	119238078	missense	probably benign	0.18
IGL03278:Ccdc40	APN	11	119242510	missense	probably damaging	1.00
IGL03054:Ccdc40	UTSW	11	119263201	missense	possibly damaging	0.69
PIT4151001:Ccdc40	UTSW	11	119242451	missense	probably damaging	1.00
R0139:Ccdc40	UTSW	11	119264299	missense	probably benign	0.00
R0140:Ccdc40	UTSW	11	119264299	missense	probably benign	0.00
R0415:Ccdc40	UTSW	11	119232118	missense	possibly damaging	0.92
R0617:Ccdc40	UTSW	11	119242804	missense	probably damaging	1.00
R1396:Ccdc40	UTSW	11	119231803	missense	possibly damaging	0.66
R1531:Ccdc40	UTSW	11	119263189	missense	probably benign	0.01
R1751:Ccdc40	UTSW	11	119230696	critical splice donor site	probably null
R1767:Ccdc40	UTSW	11	119230696	critical splice donor site	probably null
R1870:Ccdc40	UTSW	11	119259904	missense	possibly damaging	0.81
R1971:Ccdc40	UTSW	11	119263075	splice site	probably null
R2106:Ccdc40	UTSW	11	119264297	missense	probably damaging	1.00
R2370:Ccdc40	UTSW	11	119263117	missense	probably benign	0.00
R3421:Ccdc40	UTSW	11	119234779	missense	probably benign	0.02
R3746:Ccdc40	UTSW	11	119264426	missense	probably benign	0.26
R3749:Ccdc40	UTSW	11	119264426	missense	probably benign	0.26
R3871:Ccdc40	UTSW	11	119264281	missense	probably damaging	1.00
R4508:Ccdc40	UTSW	11	119242509	missense	probably damaging	0.98
R4663:Ccdc40	UTSW	11	119231506	missense	probably benign	0.01
R4787:Ccdc40	UTSW	11	119253621	missense	possibly damaging	0.74
R4867:Ccdc40	UTSW	11	119231788	missense	probably benign
R5237:Ccdc40	UTSW	11	119259976	missense	probably benign	0.00
R5661:Ccdc40	UTSW	11	119237927	missense	probably benign	0.13
R5678:Ccdc40	UTSW	11	119231572	missense	possibly damaging	0.61
R5805:Ccdc40	UTSW	11	119246080	critical splice donor site	probably null
R5830:Ccdc40	UTSW	11	119242746	missense	probably benign	0.00
R5895:Ccdc40	UTSW	11	119253403	missense	probably damaging	1.00
R5932:Ccdc40	UTSW	11	119251012	missense	probably damaging	0.98
R6034:Ccdc40	UTSW	11	119243072	missense	possibly damaging	0.70
R6034:Ccdc40	UTSW	11	119243072	missense	possibly damaging	0.70
R6109:Ccdc40	UTSW	11	119231978	missense	probably benign
R6166:Ccdc40	UTSW	11	119232001	missense	probably benign
R6336:Ccdc40	UTSW	11	119231993	missense	possibly damaging	0.82
R6569:Ccdc40	UTSW	11	119242734	missense	probably damaging	1.00
R6884:Ccdc40	UTSW	11	119242739	missense	possibly damaging	0.82
R7022:Ccdc40	UTSW	11	119231786	missense	possibly damaging	0.82
R7212:Ccdc40	UTSW	11	119264444	missense	probably damaging	0.99
R7472:Ccdc40	UTSW	11	119263148	missense	probably benign	0.30
R7522:Ccdc40	UTSW	11	119232221	missense	possibly damaging	0.73
R7888:Ccdc40	UTSW	11	119229141	missense	unknown
R8041:Ccdc40	UTSW	11	119231681	missense	possibly damaging	0.53
R8117:Ccdc40	UTSW	11	119253385	missense	probably benign	0.00
R8162:Ccdc40	UTSW	11	119260044	critical splice donor site	probably null
R8514:Ccdc40	UTSW	11	119230633	missense	unknown
R8725:Ccdc40	UTSW	11	119264497	missense	probably benign
R8727:Ccdc40	UTSW	11	119264497	missense	probably benign
R8799:Ccdc40	UTSW	11	119264466	missense	probably benign	0.00
R8877:Ccdc40	UTSW	11	119263166	missense	probably damaging	1.00
R9304:Ccdc40	UTSW	11	119231771	missense	probably benign	0.06
S24628:Ccdc40	UTSW	11	119232118	missense	possibly damaging	0.92
Z1176:Ccdc40	UTSW	11	119252008	missense	probably damaging	1.00
Z1177:Ccdc40	UTSW	11	119238107	missense	probably damaging	0.96
Z1177:Ccdc40	UTSW	11	119254398	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GCTTGTAACACGTGCCTCTAG -3'
(R):5'- AATTCCACATCTGTGTCTGGAGC -3'

Sequencing Primer
(F):5'- CTCTAGAAAGAGGCAGTAGTTACATC -3'
(R):5'- GAGCGGTCTCTCCAATGAATTC -3'

Posted On

2015-10-08