Mutagenetix > Incidental Mutation

Incidental Mutation 'R0573:Ccdc65'

46553

Institutional Source

Beutler Lab

Gene Symbol

Ccdc65

Ensembl Gene

ENSMUSG00000003354

Gene Name

coiled-coil domain containing 65

Synonyms

4933417K04Rik

MMRRC Submission

038763-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R0573 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98606088-98621217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98618930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 303 (V303A)

Ref Sequence

ENSEMBL: ENSMUSP00000003444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003444] [ENSMUST00000003445]

AlphaFold

Q8VHI7

Predicted Effect

probably benign
Transcript: ENSMUST00000003444
AA Change: V303A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: V303A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:NYD-SP28	27	127	9.8e-32	PFAM
low complexity region	129	141	N/A	INTRINSIC
coiled coil region	255	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000003445

SMART Domains

Protein: ENSMUSP00000003445
Gene: ENSMUSG00000003355

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:FKBP_C	50	141	2.5e-26	PFAM
transmembrane domain	155	177	N/A	INTRINSIC
low complexity region	178	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230743

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,278 (GRCm39)	K698N	possibly damaging	Het
Adcy8	A	T	15: 64,694,044 (GRCm39)	V411D	probably damaging	Het
Arfgef3	T	A	10: 18,475,036 (GRCm39)	E1550V	probably damaging	Het
Asb3	T	A	11: 31,011,406 (GRCm39)	I306K	probably damaging	Het
Asic4	T	A	1: 75,445,746 (GRCm39)		probably benign	Het
Basp1	G	T	15: 25,364,948 (GRCm39)	D16E	unknown	Het
Cbll1	A	T	12: 31,540,539 (GRCm39)	I123N	probably damaging	Het
Ccdc141	A	T	2: 76,869,837 (GRCm39)	H889Q	probably benign	Het
Ceacam20	T	A	7: 19,720,593 (GRCm39)	M60K	probably damaging	Het
Chd9	T	A	8: 91,725,223 (GRCm39)	V711D	probably damaging	Het
Clcn1	T	A	6: 42,289,979 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,962,268 (GRCm39)		probably benign	Het
Col4a3	C	A	1: 82,694,084 (GRCm39)	P1568Q	possibly damaging	Het
Colec12	C	A	18: 9,858,650 (GRCm39)	P478T	probably damaging	Het
Dchs1	T	C	7: 105,407,985 (GRCm39)	H1949R	probably damaging	Het
Dgka	A	G	10: 128,572,876 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,588,111 (GRCm39)	I669V	probably benign	Het
Dsg1c	T	A	18: 20,412,298 (GRCm39)	D543E	probably benign	Het
Egflam	A	T	15: 7,271,906 (GRCm39)	C677*	probably null	Het
Eml5	A	C	12: 98,791,031 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,169 (GRCm39)	R466C	probably damaging	Het
Fnbp1	C	A	2: 30,948,990 (GRCm39)	D198Y	probably damaging	Het
Gfra3	T	A	18: 34,824,668 (GRCm39)	M272L	probably benign	Het
Gm5422	T	A	10: 31,126,156 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,407,556 (GRCm39)	I34N	probably damaging	Het
Hspb2	G	T	9: 50,662,664 (GRCm39)	T155K	probably benign	Het
Il21r	A	G	7: 125,224,457 (GRCm39)	T24A	probably benign	Het
Mmadhc	T	A	2: 50,182,847 (GRCm39)	H43L	possibly damaging	Het
Morn1	T	A	4: 155,195,473 (GRCm39)	D278E	possibly damaging	Het
Myoc	T	C	1: 162,476,243 (GRCm39)	Y316H	probably damaging	Het
Nags	A	G	11: 102,037,805 (GRCm39)	D266G	probably damaging	Het
Nlrp4b	A	G	7: 10,448,142 (GRCm39)	N115S	probably benign	Het
Nlrp5	T	A	7: 23,117,056 (GRCm39)	I260N	probably damaging	Het
Obscn	G	A	11: 58,926,905 (GRCm39)	R6190C	probably damaging	Het
Or5b24	T	C	19: 12,912,624 (GRCm39)	V174A	possibly damaging	Het
Or5be3	A	G	2: 86,863,812 (GRCm39)	F251S	probably damaging	Het
Orc4	C	T	2: 48,807,285 (GRCm39)	M215I	probably benign	Het
Osbpl6	A	T	2: 76,420,735 (GRCm39)	H770L	probably damaging	Het
Otogl	A	C	10: 107,616,849 (GRCm39)	N1809K	probably benign	Het
Pde3a	G	T	6: 141,437,957 (GRCm39)	V1009L	probably damaging	Het
Pign	T	C	1: 105,580,902 (GRCm39)	Y159C	probably damaging	Het
Pik3cg	C	A	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnliprp1	C	T	19: 58,723,314 (GRCm39)	T235I	possibly damaging	Het
Pramel17	A	C	4: 101,692,611 (GRCm39)	V463G	probably damaging	Het
Prpf8	A	G	11: 75,381,480 (GRCm39)	N239D	probably damaging	Het
Psd2	T	A	18: 36,113,546 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,393,668 (GRCm39)	D1251G	probably damaging	Het
Pwp2	G	A	10: 78,018,520 (GRCm39)	S88L	probably benign	Het
Rassf4	C	T	6: 116,624,516 (GRCm39)		probably benign	Het
Rexo1	A	G	10: 80,380,684 (GRCm39)	S884P	probably damaging	Het
Rgs20	C	A	1: 5,091,037 (GRCm39)	R131L	possibly damaging	Het
Setd4	A	G	16: 93,386,834 (GRCm39)	V288A	probably benign	Het
Stx3	G	T	19: 11,763,110 (GRCm39)	T160K	probably damaging	Het
Tas2r102	T	A	6: 132,739,636 (GRCm39)	S181R	probably damaging	Het
Tenm3	T	C	8: 49,127,434 (GRCm39)		probably benign	Het
Tmem33	T	C	5: 67,421,603 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,259,306 (GRCm39)		probably benign	Het
Trip11	A	G	12: 101,853,119 (GRCm39)	I491T	probably benign	Het
Trp53bp1	A	G	2: 121,058,653 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,193,017 (GRCm39)	D199G	probably benign	Het
Zcchc4	A	G	5: 52,953,321 (GRCm39)	Y110C	probably damaging	Het
Zp2	C	T	7: 119,734,693 (GRCm39)		probably benign	Het

Other mutations in Ccdc65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Ccdc65	APN	15	98,606,277 (GRCm39)	start codon destroyed	unknown
IGL01800:Ccdc65	APN	15	98,606,946 (GRCm39)	missense	probably benign	0.37
IGL02300:Ccdc65	APN	15	98,620,991 (GRCm39)	unclassified	probably benign
IGL02880:Ccdc65	APN	15	98,606,973 (GRCm39)	missense	probably damaging	1.00
IGL03393:Ccdc65	APN	15	98,618,568 (GRCm39)	missense	probably benign	0.39
R0471:Ccdc65	UTSW	15	98,615,348 (GRCm39)	missense	probably benign	0.08
R0503:Ccdc65	UTSW	15	98,607,041 (GRCm39)	missense	probably damaging	1.00
R0707:Ccdc65	UTSW	15	98,607,095 (GRCm39)	missense	possibly damaging	0.55
R2173:Ccdc65	UTSW	15	98,618,914 (GRCm39)	missense	probably benign	0.00
R4880:Ccdc65	UTSW	15	98,620,538 (GRCm39)	splice site	probably null
R6176:Ccdc65	UTSW	15	98,606,433 (GRCm39)	splice site	probably null
R7337:Ccdc65	UTSW	15	98,618,977 (GRCm39)	missense	probably benign
R8524:Ccdc65	UTSW	15	98,606,990 (GRCm39)	missense	probably benign	0.24
R8968:Ccdc65	UTSW	15	98,616,723 (GRCm39)	nonsense	probably null
R9124:Ccdc65	UTSW	15	98,618,863 (GRCm39)	nonsense	probably null
R9561:Ccdc65	UTSW	15	98,620,759 (GRCm39)	missense	probably benign	0.04
R9568:Ccdc65	UTSW	15	98,620,819 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ACCGGAAGATCGCCTTTGAGTACC -3'
(R):5'- AGGTTTGCCTCCAGCCAAGTTTC -3'

Sequencing Primer
(F):5'- CTTTGAGTACCTGAAGGTGAAGG -3'
(R):5'- AGCCAAGTTTCTCCGTTTTG -3'

Posted On

2013-06-11