Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Ccdc151'

706391

Institutional Source

Beutler Lab

Gene Symbol

Ccdc151

Ensembl Gene

ENSMUSG00000039632

Gene Name

coiled-coil domain containing 151

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21989871-22002634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21991911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 402 (E402G)

Ref Sequence

ENSEMBL: ENSMUSP00000110993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044926] [ENSMUST00000045726] [ENSMUST00000115336] [ENSMUST00000214026] [ENSMUST00000215851]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044926
AA Change: E401G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
AA Change: E401G

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
coiled coil region	378	420	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	550	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045726

SMART Domains

Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
RasGEFN	63	201	1.35e-6	SMART
RasGEF	244	504	2.74e-84	SMART
low complexity region	533	579	N/A	INTRINSIC
RA	609	699	3.36e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115336
AA Change: E402G

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

SMART Domains

Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
AA Change: E402G

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
coiled coil region	379	421	N/A	INTRINSIC
low complexity region	496	515	N/A	INTRINSIC
low complexity region	551	566	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214026

Predicted Effect

probably benign
Transcript: ENSMUST00000215851

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,580,633	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138	L19S	possibly damaging	Het
Arpp21	T	A	9: 112,157,697	D262V	probably damaging	Het
Atp4a	A	C	7: 30,715,782	I276L	probably benign	Het
Axl	C	G	7: 25,761,557	E676Q	probably damaging	Het
Ces1g	T	C	8: 93,328,490	D193G	probably damaging	Het
Crym	A	G	7: 120,189,782	V274A	probably damaging	Het
Efcab5	T	A	11: 77,113,720	H924L	possibly damaging	Het
Eif3l	T	A	15: 79,094,223	M560K	probably benign	Het
Fam160a1	T	C	3: 85,730,746	D82G	probably benign	Het
Fam234b	C	A	6: 135,225,795	Y382*	probably null	Het
Fam71b	A	T	11: 46,404,983	I61F		Het
Fbxw19	T	C	9: 109,484,372	K253E	possibly damaging	Het
Flt3	A	G	5: 147,376,980	S87P	probably benign	Het
Ggnbp2	A	G	11: 84,834,348	L627S	probably damaging	Het
Gm16486	C	T	8: 70,709,145	T329I	possibly damaging	Het
Gm26661	T	G	14: 7,791,765	V60G	unknown	Het
Gm5065	G	A	7: 5,359,528	V53I	possibly damaging	Het
Gm5662	T	A	12: 88,271,939	N17I	unknown	Het
Golt1a	T	C	1: 133,319,356	L34P	probably damaging	Het
Gp5	T	C	16: 30,308,990	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432	H385Q	possibly damaging	Het
Hcn1	G	A	13: 117,975,365	V622I	unknown	Het
Hipk4	A	G	7: 27,529,409	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,614,802	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,058,645	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,645,606	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,508,025		probably benign	Het
Ina	T	C	19: 47,015,377	L208P		Het
Irak2	T	C	6: 113,638,643		probably null	Het
Klhl10	G	A	11: 100,447,655	E407K	probably benign	Het
Krt81	A	G	15: 101,463,454	S82P	probably damaging	Het
Ktn1	C	A	14: 47,710,896	Q963K	probably benign	Het
Lrrc42	A	T	4: 107,247,716	Y17*	probably null	Het
Lrrc9	A	C	12: 72,449,397	E15D	probably damaging	Het
Mak	G	A	13: 41,049,363	T203I	probably benign	Het
Masp2	T	C	4: 148,608,028	V326A	possibly damaging	Het
Mdc1	T	C	17: 35,853,366	S1269P	probably benign	Het
Mink1	G	A	11: 70,611,651	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,375,978	S123*	probably null	Het
Myl10	C	T	5: 136,700,933	H142Y	probably damaging	Het
Ncan	T	C	8: 70,107,998	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,543,315	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,791,438	V99M	possibly damaging	Het
Olfr1184	C	T	2: 88,487,443	T237I	probably damaging	Het
Olfr143	A	G	9: 38,253,666	K80R	probably benign	Het
Olfr1434	A	G	19: 12,283,575	R176G	probably benign	Het
Phldb2	A	G	16: 45,775,074	V830A	probably damaging	Het
Phospho2	T	C	2: 69,795,569	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,944,823		probably benign	Het
Ppcdc	T	C	9: 57,434,997	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,460,725	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,398	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613	Y53*	probably null	Het
Slc12a3	T	G	8: 94,356,400		probably null	Het
Slc26a11	A	G	11: 119,376,904	T456A	probably benign	Het
Slc26a5	G	T	5: 21,813,336	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,880,653	T690A	probably benign	Het
Spata24	A	T	18: 35,657,011	N142K	probably damaging	Het
Ubqlnl	A	T	7: 104,149,755	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,075,329		probably null	Het
Vmn1r2	C	A	4: 3,172,678	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,027,685	N128S	probably damaging	Het
Vmn2r61	G	T	7: 42,267,195	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 18,822,649	F106L	probably benign	Het
Zfp503	A	T	14: 21,985,285	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,705,320	V1432A	probably benign	Het
Zfp981	T	A	4: 146,535,427	L13I	possibly damaging	Het

Other mutations in Ccdc151

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Ccdc151	APN	9	21995379	critical splice acceptor site	probably null
IGL01922:Ccdc151	APN	9	21993530	unclassified	probably benign
IGL02223:Ccdc151	APN	9	21993612	missense	probably damaging	1.00
IGL03161:Ccdc151	APN	9	22002315	missense	probably benign	0.02
IGL03269:Ccdc151	APN	9	21998043	critical splice donor site	probably null
R0118:Ccdc151	UTSW	9	21995057	missense	probably benign	0.03
R0129:Ccdc151	UTSW	9	21993552	missense	probably damaging	0.98
R0279:Ccdc151	UTSW	9	21990247	unclassified	probably benign
R0390:Ccdc151	UTSW	9	21991708	missense	probably benign	0.00
R1349:Ccdc151	UTSW	9	21993620	missense	probably damaging	1.00
R1372:Ccdc151	UTSW	9	21993620	missense	probably damaging	1.00
R1891:Ccdc151	UTSW	9	21995381	splice site	probably null
R2044:Ccdc151	UTSW	9	21991858	missense	possibly damaging	0.95
R5116:Ccdc151	UTSW	9	21990128	makesense	probably null
R5147:Ccdc151	UTSW	9	21994862	missense	probably benign	0.21
R5929:Ccdc151	UTSW	9	22002422	missense	possibly damaging	0.50
R6182:Ccdc151	UTSW	9	21990402	missense	probably damaging	1.00
R7253:Ccdc151	UTSW	9	22002471	missense	probably damaging	1.00
R7498:Ccdc151	UTSW	9	22002257	missense	probably damaging	1.00
R7742:Ccdc151	UTSW	9	21992897	missense	possibly damaging	0.82
R8331:Ccdc151	UTSW	9	21991711	missense	probably damaging	1.00
R8976:Ccdc151	UTSW	9	21992038	unclassified	probably benign
R9319:Ccdc151	UTSW	9	21994907	missense	probably damaging	1.00
R9422:Ccdc151	UTSW	9	22002332	missense	possibly damaging	0.55
R9614:Ccdc151	UTSW	9	21993014	missense	probably benign	0.02
Z1176:Ccdc151	UTSW	9	21990424	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GGACATCATTGTGACGCTGC -3'
(R):5'- CCTCATACATTGTTGTGTGACAG -3'

Sequencing Primer
(F):5'- AATGTCTTTTGCATCTCTTCGTGGAG -3'
(R):5'- CAGAGAGAGGACCATAGTGTCCTC -3'

Posted On

2022-04-18