Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Ccdc65'

721029

Institutional Source

Beutler Lab

Gene Symbol

Ccdc65

Ensembl Gene

ENSMUSG00000003354

Gene Name

coiled-coil domain containing 65

Synonyms

4933417K04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98606088-98621217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98620759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 418 (V418D)

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: V418D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: V418D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Abca7	C	T	10: 79,837,535 (GRCm39)	T473I	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Csn2	C	T	5: 87,842,794 (GRCm39)	A78T	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Etfbkmt	A	T	6: 149,045,640 (GRCm39)		probably benign	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fam24b	T	C	7: 130,927,877 (GRCm39)	D104G	probably benign	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Micu3	A	T	8: 40,835,156 (GRCm39)	K504*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tas2r130	A	G	6: 131,607,175 (GRCm39)	S207P	probably damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	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
R0573:Ccdc65	UTSW	15	98,618,930 (GRCm39)	missense	probably benign	0.08
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
R9568:Ccdc65	UTSW	15	98,620,819 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ATCACAGAGGACCTTGCCAAG -3'
(R):5'- ATGACGTTGTAGACAGGCTG -3'

Sequencing Primer
(F):5'- CCTTGCCAAGGTAGAGGGG -3'
(R):5'- TTACTACGAAGAGCGGGT -3'

Posted On

2022-08-09