Mutagenetix > Incidental Mutation

Incidental Mutation 'R6569:Ccdc40'

526197

Institutional Source

Beutler Lab

Gene Symbol

Ccdc40

Ensembl Gene

ENSMUSG00000039963

Gene Name

coiled-coil domain containing 40

Synonyms

B930008I02Rik

MMRRC Submission

044693-MU

Accession Numbers

Essential gene?

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

Stock #

R6569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119119398-119156064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119133560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 567 (T567A)

Ref Sequence

ENSEMBL: ENSMUSP00000062198 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035935
AA Change: T497A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: T497A

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 damaging
Transcript: ENSMUST00000053440
AA Change: T567A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062198
Gene: ENSMUSG00000039963
AA Change: T567A

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: ENSMUST00000143066

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	A	6: 85,618,321 (GRCm39)	V2789D	probably benign	Het
Col7a1	T	G	9: 108,807,178 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,682,163 (GRCm39)	Q173L	probably damaging	Het
Cuzd1	T	C	7: 130,913,486 (GRCm39)	Y377C	probably damaging	Het
Echdc1	T	C	10: 29,198,280 (GRCm39)	M75T	probably damaging	Het
Faah	G	T	4: 115,874,829 (GRCm39)	A9E	probably benign	Het
Gpatch1	T	C	7: 34,991,163 (GRCm39)	D627G	probably damaging	Het
Grid1	G	T	14: 35,045,296 (GRCm39)	V380F	possibly damaging	Het
Klf4	T	C	4: 55,530,394 (GRCm39)	Y239C	probably damaging	Het
Mkx	C	A	18: 6,992,820 (GRCm39)	E155*	probably null	Het
Mmp11	G	A	10: 75,763,216 (GRCm39)		probably benign	Het
Mms19	T	C	19: 41,952,807 (GRCm39)	K101E	possibly damaging	Het
Mrpl23	C	A	7: 142,088,776 (GRCm39)	R44S	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Or4a75	A	G	2: 89,448,359 (GRCm39)	F59S	possibly damaging	Het
Or7e166	G	A	9: 19,624,638 (GRCm39)	V172I	probably benign	Het
Or8u10	A	G	2: 85,915,849 (GRCm39)	S91P	possibly damaging	Het
Pcdhgc5	C	T	18: 37,953,248 (GRCm39)	P174L	probably damaging	Het
Phf20l1	A	T	15: 66,501,673 (GRCm39)	D619V	probably damaging	Het
Plcz1	C	T	6: 139,953,433 (GRCm39)	A395T	possibly damaging	Het
Polr1f	T	A	12: 33,487,882 (GRCm39)	C266S	probably benign	Het
Rbm45	A	G	2: 76,209,416 (GRCm39)	D410G	probably damaging	Het
Sh3bp1	T	C	15: 78,795,896 (GRCm39)	L675P	probably damaging	Het
Taf6l	G	A	19: 8,750,074 (GRCm39)	T208I	probably damaging	Het
Tnpo3	A	G	6: 29,571,065 (GRCm39)	I443T	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,425 (GRCm39)	L48P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,941 (GRCm39)	V111A	probably benign	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
R1767: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
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

PCR Primer
(F):5'- CCAAGTCATGAAGCAGGTGG -3'
(R):5'- GGTGCTGTCTGGTTGAACCTAC -3'

Sequencing Primer
(F):5'- AGATGCACGCCGAGGTG -3'
(R):5'- TGGTTGAACCTACCAGGCCAG -3'

Posted On

2018-06-22