Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Ccdc66'

77575

Institutional Source

Beutler Lab

Gene Symbol

Ccdc66

Ensembl Gene

ENSMUSG00000046753

Gene Name

coiled-coil domain containing 66

Synonyms

E230015L20Rik

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R0831 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

27203047-27230417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27219313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 148 (V148I)

Ref Sequence

ENSEMBL: ENSMUSP00000052546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050480] [ENSMUST00000223689]

AlphaFold

Q6NS45

Predicted Effect

probably benign
Transcript: ENSMUST00000050480
AA Change: V148I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: V148I

Domain	Start	End	E-Value	Type
coiled coil region	252	284	N/A	INTRINSIC
Pfam:CCDC66	409	561	1e-49	PFAM
low complexity region	715	721	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223689
AA Change: V304I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display slowly progressing photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
Atxn2l	A	G	7: 126,098,332 (GRCm39)	S187P	probably damaging	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Nop14	T	C	5: 34,807,864 (GRCm39)	E366G	possibly damaging	Het
Or13c3	T	G	4: 52,855,764 (GRCm39)	I250L	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Sirpa	T	G	2: 129,469,856 (GRCm39)		probably benign	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Thoc1	C	T	18: 9,963,267 (GRCm39)	T127I	probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	probably damaging	Het

Other mutations in Ccdc66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Ccdc66	APN	14	27,220,413 (GRCm39)	missense	probably damaging	1.00
IGL01333:Ccdc66	APN	14	27,215,272 (GRCm39)	missense	possibly damaging	0.60
IGL01684:Ccdc66	APN	14	27,222,206 (GRCm39)	missense	possibly damaging	0.66
IGL02327:Ccdc66	APN	14	27,215,343 (GRCm39)	missense	probably damaging	1.00
IGL02668:Ccdc66	APN	14	27,219,298 (GRCm39)	missense	possibly damaging	0.94
IGL02698:Ccdc66	APN	14	27,212,749 (GRCm39)	nonsense	probably null
IGL03293:Ccdc66	APN	14	27,212,628 (GRCm39)	missense	probably damaging	1.00
1mM(1):Ccdc66	UTSW	14	27,220,732 (GRCm39)	missense	possibly damaging	0.75
IGL02796:Ccdc66	UTSW	14	27,208,523 (GRCm39)	missense	possibly damaging	0.93
R0374:Ccdc66	UTSW	14	27,220,430 (GRCm39)	missense	probably damaging	1.00
R0381:Ccdc66	UTSW	14	27,213,890 (GRCm39)	missense	probably damaging	1.00
R0498:Ccdc66	UTSW	14	27,222,197 (GRCm39)	critical splice donor site	probably null
R0969:Ccdc66	UTSW	14	27,219,319 (GRCm39)	missense	probably damaging	0.98
R1558:Ccdc66	UTSW	14	27,208,463 (GRCm39)	missense	probably benign	0.41
R2203:Ccdc66	UTSW	14	27,208,790 (GRCm39)	missense	probably benign	0.03
R4015:Ccdc66	UTSW	14	27,205,793 (GRCm39)	missense	probably damaging	1.00
R4225:Ccdc66	UTSW	14	27,212,736 (GRCm39)	missense	probably damaging	1.00
R4584:Ccdc66	UTSW	14	27,222,468 (GRCm39)	missense	probably benign	0.31
R4600:Ccdc66	UTSW	14	27,222,377 (GRCm39)	missense	probably damaging	1.00
R4601:Ccdc66	UTSW	14	27,222,377 (GRCm39)	missense	probably damaging	1.00
R4603:Ccdc66	UTSW	14	27,222,377 (GRCm39)	missense	probably damaging	1.00
R4610:Ccdc66	UTSW	14	27,222,377 (GRCm39)	missense	probably damaging	1.00
R4611:Ccdc66	UTSW	14	27,222,377 (GRCm39)	missense	probably damaging	1.00
R4832:Ccdc66	UTSW	14	27,222,524 (GRCm39)	missense	probably benign	0.00
R5098:Ccdc66	UTSW	14	27,220,750 (GRCm39)	missense	probably damaging	1.00
R5322:Ccdc66	UTSW	14	27,204,484 (GRCm39)	missense	probably damaging	1.00
R5586:Ccdc66	UTSW	14	27,228,668 (GRCm39)	missense	probably damaging	1.00
R5681:Ccdc66	UTSW	14	27,208,698 (GRCm39)	missense	probably benign	0.07
R5788:Ccdc66	UTSW	14	27,220,448 (GRCm39)	missense	probably benign	0.10
R5790:Ccdc66	UTSW	14	27,222,404 (GRCm39)	missense	possibly damaging	0.62
R6329:Ccdc66	UTSW	14	27,208,441 (GRCm39)	missense	probably benign	0.20
R7171:Ccdc66	UTSW	14	27,215,229 (GRCm39)	missense	possibly damaging	0.94
R7268:Ccdc66	UTSW	14	27,208,880 (GRCm39)	missense	probably benign	0.24
R7337:Ccdc66	UTSW	14	27,222,290 (GRCm39)	missense	probably damaging	1.00
R7348:Ccdc66	UTSW	14	27,222,293 (GRCm39)	missense	probably damaging	1.00
R7552:Ccdc66	UTSW	14	27,220,820 (GRCm39)	missense	possibly damaging	0.63
R8698:Ccdc66	UTSW	14	27,212,647 (GRCm39)	missense	probably benign	0.07
R8990:Ccdc66	UTSW	14	27,208,655 (GRCm39)	missense	probably benign	0.34
R9065:Ccdc66	UTSW	14	27,213,850 (GRCm39)	missense	probably damaging	0.98
R9455:Ccdc66	UTSW	14	27,208,872 (GRCm39)	missense	probably benign	0.01
R9599:Ccdc66	UTSW	14	27,219,381 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTCTTTACGGCAAGGCCAC -3'
(R):5'- CTGGGATTAACTGTTTCCGTTTGCAC -3'

Sequencing Primer
(F):5'- actcttgcctcacaaacaaaac -3'
(R):5'- CGTTTGCACTCTCTAAGAGGTC -3'

Posted On

2013-10-16