Mutagenetix > Incidental Mutation

Incidental Mutation 'R8727:Ccdc40'

662524

Institutional Source

Beutler Lab

Gene Symbol

Ccdc40

Ensembl Gene

ENSMUSG00000039963

Gene Name

coiled-coil domain containing 40

Synonyms

B930008I02Rik

MMRRC Submission

068575-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R8727 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

119119398-119156064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119155323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1188 (T1188A)

Ref Sequence

ENSEMBL: ENSMUSP00000039463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026666] [ENSMUST00000035935] [ENSMUST00000053440] [ENSMUST00000106258] [ENSMUST00000106259]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026666

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PD	80	134	1.08e-15	SMART
Pfam:Gal_mutarotas_2	254	320	3.7e-12	PFAM
Pfam:Glyco_hydro_31	340	825	8.8e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035935
AA Change: T1188A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039463
Gene: ENSMUSG00000039963
AA Change: T1188A

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: 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

probably benign
Transcript: ENSMUST00000106258

SMART Domains

Protein: ENSMUSP00000101865
Gene: ENSMUSG00000025579

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PD	80	134	1.08e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106259

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PD	80	134	1.08e-15	SMART
Pfam:NtCtMGAM_N	147	253	3.5e-32	PFAM
Pfam:Gal_mutarotas_2	254	320	6.5e-12	PFAM
Pfam:Glyco_hydro_31	340	825	1.8e-153	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adam30	C	T	3: 98,070,348 (GRCm39)	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Btbd10	A	G	7: 112,927,626 (GRCm39)	I243T	possibly damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fbxl5	A	T	5: 43,908,362 (GRCm39)		probably benign	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,086,009 (GRCm39)		probably benign	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,256,055 (GRCm39)		probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Plekhm1	A	C	11: 103,258,444 (GRCm39)	F1031L	probably damaging	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,442,541 (GRCm39)		probably benign	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rtn3	A	G	19: 7,434,726 (GRCm39)	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,911,090 (GRCm39)	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
U2af2	T	A	7: 5,070,432 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	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
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
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'- TTCTGGAGATCGTGACCCTG -3'
(R):5'- TGTGAACAGCAGAGAGGCTTTG -3'

Sequencing Primer
(F):5'- AGATCGTGACCCTGCAGAC -3'
(R):5'- CAGAGAGGCTTTGAATCACGTGTC -3'

Posted On

2021-03-08