Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Ccdc40'

194494

Institutional Source

Beutler Lab

Gene Symbol

Ccdc40

Ensembl Gene

ENSMUSG00000039963

Gene Name

coiled-coil domain containing 40

Synonyms

B930008I02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119119398-119156064 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 119121522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000053440

SMART Domains

Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,743,754 (GRCm39)	N128S	possibly damaging	Het
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Adgrf5	A	T	17: 43,761,455 (GRCm39)	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Alk	T	A	17: 72,207,693 (GRCm39)	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,169,727 (GRCm39)		probably null	Het
Bpifa6	A	G	2: 153,829,147 (GRCm39)	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Cckbr	A	T	7: 105,083,758 (GRCm39)	I229F	possibly damaging	Het
Cers3	A	G	7: 66,433,151 (GRCm39)	K156R	probably damaging	Het
Chd1	T	A	17: 15,990,565 (GRCm39)	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,282,869 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Dis3	A	T	14: 99,321,578 (GRCm39)	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,373,880 (GRCm39)	H270R	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Focad	G	T	4: 88,275,705 (GRCm39)	V1105L	unknown	Het
Fzd1	A	G	5: 4,806,812 (GRCm39)	Y257H	probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm11938	G	A	11: 99,494,071 (GRCm39)	S8F	unknown	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,251,566 (GRCm39)	D993G	possibly damaging	Het
Jhy	T	C	9: 40,872,444 (GRCm39)	R22G	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,468,199 (GRCm39)	S115L	probably damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12j3	T	C	7: 139,953,389 (GRCm39)	I45V	possibly damaging	Het
Or52r1	T	A	7: 102,536,833 (GRCm39)	I176F	probably damaging	Het
Or8k3b	A	G	2: 86,520,728 (GRCm39)	M197T	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Prss22	T	A	17: 24,215,331 (GRCm39)	E148D	probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rnf26rt	A	T	6: 76,474,588 (GRCm39)	N9K	unknown	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Slco5a1	T	C	1: 13,059,839 (GRCm39)	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,418,274 (GRCm39)	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,304,951 (GRCm39)	D262V	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tjp1	A	G	7: 64,962,301 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Usp42	A	T	5: 143,700,621 (GRCm39)	V1134E	possibly damaging	Het
Uvrag	A	G	7: 98,748,601 (GRCm39)	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,800,840 (GRCm39)	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,689,058 (GRCm39)	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,301,348 (GRCm39)	S398A	possibly damaging	Het

Other mutations in Ccdc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Ccdc40	APN	11	119,133,545 (GRCm39)	missense	possibly damaging	0.90
IGL01864:Ccdc40	APN	11	119,133,911 (GRCm39)	missense	probably benign	0.23
IGL01911:Ccdc40	APN	11	119,122,797 (GRCm39)	splice site	probably null
IGL02640:Ccdc40	APN	11	119,128,904 (GRCm39)	missense	probably benign	0.18
IGL03278:Ccdc40	APN	11	119,133,336 (GRCm39)	missense	probably damaging	1.00
IGL03054:Ccdc40	UTSW	11	119,154,027 (GRCm39)	missense	possibly damaging	0.69
PIT4151001:Ccdc40	UTSW	11	119,133,277 (GRCm39)	missense	probably damaging	1.00
R0139:Ccdc40	UTSW	11	119,155,125 (GRCm39)	missense	probably benign	0.00
R0140:Ccdc40	UTSW	11	119,155,125 (GRCm39)	missense	probably benign	0.00
R0415:Ccdc40	UTSW	11	119,122,944 (GRCm39)	missense	possibly damaging	0.92
R0617:Ccdc40	UTSW	11	119,133,630 (GRCm39)	missense	probably damaging	1.00
R1396:Ccdc40	UTSW	11	119,122,629 (GRCm39)	missense	possibly damaging	0.66
R1531:Ccdc40	UTSW	11	119,154,015 (GRCm39)	missense	probably benign	0.01
R1751:Ccdc40	UTSW	11	119,121,522 (GRCm39)	critical splice donor site	probably null
R1870:Ccdc40	UTSW	11	119,150,730 (GRCm39)	missense	possibly damaging	0.81
R1971:Ccdc40	UTSW	11	119,153,901 (GRCm39)	splice site	probably null
R2106:Ccdc40	UTSW	11	119,155,123 (GRCm39)	missense	probably damaging	1.00
R2370:Ccdc40	UTSW	11	119,153,943 (GRCm39)	missense	probably benign	0.00
R3421:Ccdc40	UTSW	11	119,125,605 (GRCm39)	missense	probably benign	0.02
R3746:Ccdc40	UTSW	11	119,155,252 (GRCm39)	missense	probably benign	0.26
R3749:Ccdc40	UTSW	11	119,155,252 (GRCm39)	missense	probably benign	0.26
R3871:Ccdc40	UTSW	11	119,155,107 (GRCm39)	missense	probably damaging	1.00
R4508:Ccdc40	UTSW	11	119,133,335 (GRCm39)	missense	probably damaging	0.98
R4613:Ccdc40	UTSW	11	119,122,358 (GRCm39)	missense	probably benign	0.09
R4663:Ccdc40	UTSW	11	119,122,332 (GRCm39)	missense	probably benign	0.01
R4787:Ccdc40	UTSW	11	119,144,447 (GRCm39)	missense	possibly damaging	0.74
R4867:Ccdc40	UTSW	11	119,122,614 (GRCm39)	missense	probably benign
R5237:Ccdc40	UTSW	11	119,150,802 (GRCm39)	missense	probably benign	0.00
R5661:Ccdc40	UTSW	11	119,128,753 (GRCm39)	missense	probably benign	0.13
R5678:Ccdc40	UTSW	11	119,122,398 (GRCm39)	missense	possibly damaging	0.61
R5805:Ccdc40	UTSW	11	119,136,906 (GRCm39)	critical splice donor site	probably null
R5830:Ccdc40	UTSW	11	119,133,572 (GRCm39)	missense	probably benign	0.00
R5895:Ccdc40	UTSW	11	119,144,229 (GRCm39)	missense	probably damaging	1.00
R5932:Ccdc40	UTSW	11	119,141,838 (GRCm39)	missense	probably damaging	0.98
R6034:Ccdc40	UTSW	11	119,133,898 (GRCm39)	missense	possibly damaging	0.70
R6034:Ccdc40	UTSW	11	119,133,898 (GRCm39)	missense	possibly damaging	0.70
R6109:Ccdc40	UTSW	11	119,122,804 (GRCm39)	missense	probably benign
R6166:Ccdc40	UTSW	11	119,122,827 (GRCm39)	missense	probably benign
R6336:Ccdc40	UTSW	11	119,122,819 (GRCm39)	missense	possibly damaging	0.82
R6569:Ccdc40	UTSW	11	119,133,560 (GRCm39)	missense	probably damaging	1.00
R6884:Ccdc40	UTSW	11	119,133,565 (GRCm39)	missense	possibly damaging	0.82
R7022:Ccdc40	UTSW	11	119,122,612 (GRCm39)	missense	possibly damaging	0.82
R7212:Ccdc40	UTSW	11	119,155,270 (GRCm39)	missense	probably damaging	0.99
R7472:Ccdc40	UTSW	11	119,153,974 (GRCm39)	missense	probably benign	0.30
R7522:Ccdc40	UTSW	11	119,123,047 (GRCm39)	missense	possibly damaging	0.73
R7888:Ccdc40	UTSW	11	119,119,967 (GRCm39)	missense	unknown
R8041:Ccdc40	UTSW	11	119,122,507 (GRCm39)	missense	possibly damaging	0.53
R8117:Ccdc40	UTSW	11	119,144,211 (GRCm39)	missense	probably benign	0.00
R8162:Ccdc40	UTSW	11	119,150,870 (GRCm39)	critical splice donor site	probably null
R8514:Ccdc40	UTSW	11	119,121,459 (GRCm39)	missense	unknown
R8725:Ccdc40	UTSW	11	119,155,323 (GRCm39)	missense	probably benign
R8727:Ccdc40	UTSW	11	119,155,323 (GRCm39)	missense	probably benign
R8799:Ccdc40	UTSW	11	119,155,292 (GRCm39)	missense	probably benign	0.00
R8877:Ccdc40	UTSW	11	119,153,992 (GRCm39)	missense	probably damaging	1.00
R9304:Ccdc40	UTSW	11	119,122,597 (GRCm39)	missense	probably benign	0.06
S24628:Ccdc40	UTSW	11	119,122,944 (GRCm39)	missense	possibly damaging	0.92
Z1176:Ccdc40	UTSW	11	119,142,834 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc40	UTSW	11	119,145,224 (GRCm39)	missense	probably benign	0.16
Z1177:Ccdc40	UTSW	11	119,128,933 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2014-05-23