Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Ccdc81'

46910

Institutional Source

Beutler Lab

Gene Symbol

Ccdc81

Ensembl Gene

ENSMUSG00000039391

Gene Name

coiled-coil domain containing 81

Synonyms

4921513D09Rik

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89866148-89903629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89893296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 124 (E124V)

Ref Sequence

ENSEMBL: ENSMUSP00000117788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]

AlphaFold

Q9D5W4

Predicted Effect

probably damaging
Transcript: ENSMUST00000041195
AA Change: E124V

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

SMART Domains

Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: E124V

Domain	Start	End	E-Value	Type
Pfam:DUF4496	29	165	2.7e-47	PFAM
low complexity region	224	233	N/A	INTRINSIC
low complexity region	344	355	N/A	INTRINSIC
coiled coil region	434	468	N/A	INTRINSIC
low complexity region	623	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131966
AA Change: E124V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391
AA Change: E124V

Domain	Start	End	E-Value	Type
Pfam:DUF4496	28	165	2e-41	PFAM

Meta Mutation Damage Score

0.4733

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071		probably null	Het
A630095E13Rik	A	T	9: 36,638,577		probably null	Het
Abca13	G	T	11: 9,294,559	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458		probably benign	Het
Adam3	A	T	8: 24,695,315	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571		probably benign	Het
Anapc4	A	G	5: 52,842,017		probably benign	Het
Ank3	A	T	10: 69,882,368	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059		probably benign	Het
Ankrd13b	T	A	11: 77,473,288	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417		probably null	Het
Atg2a	T	C	19: 6,252,539	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218		probably benign	Het
Bbof1	T	A	12: 84,430,271	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843		probably null	Het
C130079G13Rik	A	G	3: 59,936,350	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582	Y100H	probably damaging	Het
Cd84	A	G	1: 171,872,927	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333		probably null	Het
Csmd1	C	T	8: 15,932,529	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038		probably benign	Het
Dach1	A	T	14: 97,901,329	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980		probably benign	Het
Fam184a	G	T	10: 53,698,879	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945		probably benign	Het
Gm9047	G	T	6: 29,478,170		probably benign	Het
Haus5	A	T	7: 30,659,067	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143		probably null	Het
Hr	T	A	14: 70,561,912	C641*	probably null	Het
Itga10	A	G	3: 96,658,174	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607		probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267	T299A	probably benign	Het
Med25	A	G	7: 44,885,078		probably null	Het
Mpg	A	T	11: 32,230,039	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715		probably benign	Het
Pclo	A	G	5: 14,678,285		probably benign	Het
Pclo	T	C	5: 14,679,398		probably benign	Het
Pcnt	A	T	10: 76,404,595	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216		probably benign	Het
Ptbp2	T	G	3: 119,720,964	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069		probably benign	Het
Rbm6	G	A	9: 107,847,289	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Robo1	T	C	16: 73,013,125		probably null	Het
Samd12	G	A	15: 53,860,171	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	G	A	2: 62,286,862	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860		probably benign	Het
Smg6	T	A	11: 74,929,058	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984		probably null	Het
Sugp1	A	G	8: 70,059,363	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440		probably benign	Het
Vmn2r55	C	T	7: 12,671,018	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660	I1023T	possibly damaging	Het

Other mutations in Ccdc81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ccdc81	APN	7	89869615	splice site	probably benign
IGL01948:Ccdc81	APN	7	89875855	missense	possibly damaging	0.80
IGL02177:Ccdc81	APN	7	89875780	missense	possibly damaging	0.94
IGL02396:Ccdc81	APN	7	89881649	missense	probably benign
IGL02420:Ccdc81	APN	7	89875738	missense	probably benign	0.16
IGL02536:Ccdc81	APN	7	89877580	splice site	probably benign
IGL03195:Ccdc81	APN	7	89896708	missense	probably benign	0.05
IGL03397:Ccdc81	APN	7	89896828	missense	probably damaging	1.00
I0000:Ccdc81	UTSW	7	89898051	missense	probably damaging	1.00
R0089:Ccdc81	UTSW	7	89893116	missense	possibly damaging	0.87
R0409:Ccdc81	UTSW	7	89886215	missense	probably benign	0.01
R0449:Ccdc81	UTSW	7	89890471	missense	probably damaging	1.00
R0490:Ccdc81	UTSW	7	89887762	missense	probably benign	0.28
R0562:Ccdc81	UTSW	7	89903229	missense	probably benign	0.02
R0801:Ccdc81	UTSW	7	89887658	splice site	probably null
R0944:Ccdc81	UTSW	7	89866569	missense	probably damaging	0.99
R1006:Ccdc81	UTSW	7	89866561	missense	probably benign	0.03
R1334:Ccdc81	UTSW	7	89866561	missense	probably benign	0.03
R1526:Ccdc81	UTSW	7	89875873	missense	probably damaging	0.99
R1623:Ccdc81	UTSW	7	89886182	missense	probably benign	0.00
R1753:Ccdc81	UTSW	7	89866561	missense	probably benign	0.03
R1885:Ccdc81	UTSW	7	89866611	missense	possibly damaging	0.80
R1886:Ccdc81	UTSW	7	89866611	missense	possibly damaging	0.80
R1887:Ccdc81	UTSW	7	89866611	missense	possibly damaging	0.80
R1889:Ccdc81	UTSW	7	89882294	nonsense	probably null
R1964:Ccdc81	UTSW	7	89886153	missense	probably benign
R1997:Ccdc81	UTSW	7	89898063	missense	probably damaging	1.00
R3725:Ccdc81	UTSW	7	89866630	missense	possibly damaging	0.95
R5494:Ccdc81	UTSW	7	89877573	missense	probably damaging	1.00
R5660:Ccdc81	UTSW	7	89893129	missense	probably benign
R6275:Ccdc81	UTSW	7	89882311	missense	possibly damaging	0.59
R6434:Ccdc81	UTSW	7	89876144	missense	probably damaging	1.00
R6711:Ccdc81	UTSW	7	89887798	missense	probably damaging	0.98
R7287:Ccdc81	UTSW	7	89893123	missense	probably damaging	0.98
R7582:Ccdc81	UTSW	7	89876145	missense	probably damaging	0.99
R7914:Ccdc81	UTSW	7	89875780	missense	possibly damaging	0.94
R7976:Ccdc81	UTSW	7	89866515	nonsense	probably null
R7977:Ccdc81	UTSW	7	89876111	missense	probably damaging	1.00
R7987:Ccdc81	UTSW	7	89876111	missense	probably damaging	1.00
R7991:Ccdc81	UTSW	7	89890401	missense	probably benign	0.01
R8002:Ccdc81	UTSW	7	89876135	missense	probably benign
R8309:Ccdc81	UTSW	7	89877578	critical splice acceptor site	probably null
R9031:Ccdc81	UTSW	7	89893150	missense	probably benign	0.03
RF018:Ccdc81	UTSW	7	89866698	splice site	probably null
X0061:Ccdc81	UTSW	7	89877489	missense	probably benign	0.00
Z1177:Ccdc81	UTSW	7	89881657	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCAAGATGCCACTTCCATCCATCG -3'
(R):5'- AGGCAGTTCAGCACTGCTCTGTTC -3'

Sequencing Primer
(F):5'- TTCCATCCATCGAACAGAGG -3'
(R):5'- TGCTCTGTTCCCTAGAGAAAAC -3'

Posted On

2013-06-11