Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Ccdc66'

668872

Institutional Source

Beutler Lab

Gene Symbol

Ccdc66

Ensembl Gene

ENSMUSG00000046753

Gene Name

coiled-coil domain containing 66

Synonyms

E230015L20Rik

MMRRC Submission

068552-MU

Accession Numbers

Essential gene?

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

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27203047-27230417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27212647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 403 (T403A)

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: T403A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: T403A

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: T559A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,247,250 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,714 (GRCm39)	N1384S	probably benign	Het
Adgre1	T	C	17: 57,709,003 (GRCm39)	S65P	probably benign	Het
Adgrl4	G	T	3: 151,203,512 (GRCm39)	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942 (GRCm39)	G160D	probably damaging	Het
Alpi	T	G	1: 87,028,208 (GRCm39)	D205A	probably damaging	Het
AW146154	C	A	7: 41,129,934 (GRCm39)	R394L	probably benign	Het
Bcl10	G	A	3: 145,639,022 (GRCm39)	M221I	probably benign	Het
Brpf3	G	A	17: 29,037,436 (GRCm39)	R768H	probably damaging	Het
Cad	G	T	5: 31,234,819 (GRCm39)	R2116L	probably benign	Het
Cand2	G	T	6: 115,763,852 (GRCm39)	R258L	probably damaging	Het
Car4	A	T	11: 84,855,009 (GRCm39)	N119I	probably benign	Het
Carmil1	C	T	13: 24,220,229 (GRCm39)	G1165D	probably damaging	Het
Cdon	T	G	9: 35,398,269 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,607,790 (GRCm39)	I739V	probably damaging	Het
Cep85l	A	G	10: 53,234,201 (GRCm39)	I59T	probably damaging	Het
Clec4f	A	T	6: 83,630,267 (GRCm39)	V97D	probably benign	Het
Cnot6l	A	G	5: 96,225,149 (GRCm39)	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,026,156 (GRCm39)	G935D	probably damaging	Het
Cntrl	A	G	2: 35,023,974 (GRCm39)	H553R	probably damaging	Het
Cops3	A	G	11: 59,708,886 (GRCm39)	S423P	probably damaging	Het
Cox15	C	T	19: 43,739,948 (GRCm39)	R39H	probably benign	Het
Ctnna2	A	G	6: 77,630,100 (GRCm39)	V131A	probably benign	Het
Dcst2	T	A	3: 89,276,044 (GRCm39)	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483 (GRCm39)		probably null	Het
Dennd3	A	C	15: 73,394,154 (GRCm39)	T60P	possibly damaging	Het
Dipk1a	A	T	5: 108,057,776 (GRCm39)	F261I	probably damaging	Het
Dmxl2	T	C	9: 54,281,953 (GRCm39)	N2859S	probably benign	Het
Dnah12	A	T	14: 26,428,418 (GRCm39)	I280F	probably benign	Het
Dnah8	A	C	17: 31,094,009 (GRCm39)	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,487,414 (GRCm39)	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,785,345 (GRCm39)	S906P	probably benign	Het
Fam169a	G	T	13: 97,243,578 (GRCm39)	V203F	probably damaging	Het
Fmn1	C	T	2: 113,260,152 (GRCm39)	L682F	unknown	Het
Gli2	T	C	1: 118,769,887 (GRCm39)	Y555C	probably damaging	Het
Gm3278	A	G	14: 16,081,505 (GRCm39)	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554 (GRCm38)	Y37F	probably damaging	Het
Golga4	T	G	9: 118,385,029 (GRCm39)	L717R	probably damaging	Het
Gtpbp4	C	T	13: 9,024,249 (GRCm39)	R568H	probably benign	Het
Il1f10	A	G	2: 24,183,197 (GRCm39)	N47S	probably damaging	Het
Itga6	A	G	2: 71,673,618 (GRCm39)	H884R	probably benign	Het
Kdm1a	T	C	4: 136,286,518 (GRCm39)	K482R	probably benign	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	T	A	2: 69,278,583 (GRCm39)	R3923S	probably benign	Het
Lrp2	C	T	2: 69,288,767 (GRCm39)	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,636,400 (GRCm39)	D1458G	probably benign	Het
Mapre2	T	A	18: 24,011,090 (GRCm39)	S233T	probably benign	Het
Mki67	T	C	7: 135,296,937 (GRCm39)	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,128,947 (GRCm39)	Y214*	probably null	Het
Ncoa6	A	T	2: 155,257,041 (GRCm39)	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Niban3	T	A	8: 72,060,159 (GRCm39)	I93N	unknown	Het
Or1j15	T	C	2: 36,458,915 (GRCm39)	Y102H	possibly damaging	Het
Or2ag16	A	T	7: 106,352,571 (GRCm39)	V8E	probably benign	Het
Or2b7	G	A	13: 21,739,890 (GRCm39)	L101F	probably damaging	Het
P2ry14	A	G	3: 59,022,596 (GRCm39)	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,576,105 (GRCm39)	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,298,542 (GRCm39)	V496D	probably damaging	Het
Plekho2	A	T	9: 65,463,554 (GRCm39)	L432M	probably damaging	Het
Ppa2	T	C	3: 133,082,362 (GRCm39)	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,328,499 (GRCm39)	T422I	probably benign	Het
Prelid3a	T	C	18: 67,610,122 (GRCm39)	S151P	probably damaging	Het
Rad21l	G	A	2: 151,487,373 (GRCm39)	P537L	probably damaging	Het
Sacs	T	A	14: 61,450,802 (GRCm39)	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843 (GRCm39)	D1139E	probably benign	Het
Scn9a	G	T	2: 66,366,628 (GRCm39)	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,668,636 (GRCm39)	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,600,889 (GRCm39)	M361V	probably benign	Het
Slc8a2	A	G	7: 15,891,132 (GRCm39)	Y724C	probably damaging	Het
Slf1	A	T	13: 77,197,284 (GRCm39)	S777T	possibly damaging	Het
Sltm	T	C	9: 70,494,352 (GRCm39)	S901P	probably benign	Het
Smc1b	A	T	15: 84,997,047 (GRCm39)	H524Q	probably benign	Het
Spast	T	C	17: 74,666,341 (GRCm39)	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246 (GRCm39)	R252W	probably damaging	Het
Syne1	A	G	10: 5,179,229 (GRCm39)	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,535,990 (GRCm39)	Y8F	probably benign	Het
Tmem241	T	C	18: 12,197,288 (GRCm39)	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,444,890 (GRCm39)	V164I	probably benign	Het
Ttc41	T	C	10: 86,548,841 (GRCm39)	Y12H	probably benign	Het
Twnk	T	C	19: 44,996,299 (GRCm39)	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,015,952 (GRCm39)	S122P	probably damaging	Het
Vmn1r78	A	G	7: 11,886,539 (GRCm39)	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,151,390 (GRCm39)	F75L	probably benign	Het
Wbp4	G	T	14: 79,707,573 (GRCm39)	Y179*	probably null	Het
Zfp106	A	G	2: 120,354,600 (GRCm39)		probably null	Het
Zfp974	A	T	7: 27,610,361 (GRCm39)	C455S	possibly 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
R0831:Ccdc66	UTSW	14	27,219,313 (GRCm39)	missense	probably benign	0.00
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
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'- CTGCAAAGTAATGTTTTAGGACAGC -3'
(R):5'- AGCGCTTGTACTGAATCCAAC -3'

Sequencing Primer
(F):5'- CAGCTTTCTAAATTAGTAAGGATGGC -3'
(R):5'- GCTTGTACTGAATCCAACAGTCAC -3'

Posted On

2021-04-30