Mutagenetix > Incidental Mutations

Incidental Mutation 'R5176:Ccdc69'

399318

Institutional Source

Beutler Lab

Gene Symbol

Ccdc69

Ensembl Gene

ENSMUSG00000049588

Gene Name

coiled-coil domain containing 69

Synonyms

D11Ertd461e, 2210021E03Rik

MMRRC Submission

042756-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5176 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

55049731-55078131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55060470 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 42 (A42T)

Ref Sequence

ENSEMBL: ENSMUSP00000104508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055040] [ENSMUST00000108880]

Predicted Effect

probably benign
Transcript: ENSMUST00000055040
AA Change: A42T

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

SMART Domains

Protein: ENSMUSP00000054840
Gene: ENSMUSG00000049588
AA Change: A42T

Domain	Start	End	E-Value	Type
coiled coil region	112	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108880
AA Change: A42T

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

SMART Domains

Protein: ENSMUSP00000104508
Gene: ENSMUSG00000049588
AA Change: A42T

Domain	Start	End	E-Value	Type
coiled coil region	112	142	N/A	INTRINSIC

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca7	C	A	10: 79,998,289	H116Q	probably benign	Het
Akap12	G	T	10: 4,353,947	E252D	probably benign	Het
Apobr	A	G	7: 126,585,016	D2G	probably damaging	Het
Arhgef12	A	T	9: 43,020,686	H168Q	probably damaging	Het
Asb3	T	A	11: 31,081,357		probably null	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,635,131	Y1679N	probably damaging	Het
Cds1	G	T	5: 101,781,420	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,637,026	D989E	probably benign	Het
Cpsf6	C	A	10: 117,361,284		probably benign	Het
Ctif	C	T	18: 75,637,219	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dao	T	C	5: 114,020,009		probably null	Het
Dopey1	T	A	9: 86,521,815	N1689K	probably damaging	Het
Dopey2	A	G	16: 93,740,043	Y14C	probably damaging	Het
E130309D02Rik	G	T	5: 143,315,075	S7*	probably null	Het
Fam160b1	A	G	19: 57,371,181	N51S	probably damaging	Het
Fam187a	C	T	11: 102,886,464	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,731,439		probably benign	Het
Fkbp15	G	T	4: 62,312,323	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208	V118F	probably damaging	Het
Gm11492	T	A	11: 87,567,532	M244K	probably benign	Het
Gm13991	T	A	2: 116,528,027		noncoding transcript	Het
H2-M9	T	C	17: 36,641,631	I174M	probably damaging	Het
Insr	T	A	8: 3,158,742	M1240L	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,152,812	E95D	probably benign	Het
March9	T	C	10: 127,059,450	D102G	probably benign	Het
Muc19	A	G	15: 91,892,180		noncoding transcript	Het
Nr1h4	T	A	10: 89,498,255	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,948,802	M1K	probably null	Het
Olfr561	T	A	7: 102,775,306	S261T	probably damaging	Het
Olfr836	A	T	9: 19,121,360	Y132F	probably damaging	Het
Olfr998	A	C	2: 85,591,435	K298N	possibly damaging	Het
Oprd1	T	C	4: 132,113,793	T285A	probably benign	Het
Optc	T	C	1: 133,902,084	N196S	probably benign	Het
Panx2	G	T	15: 89,060,228	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pot1b	T	A	17: 55,699,995	T41S	probably benign	Het
Prss56	T	C	1: 87,184,158	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,156,415	T870A	probably damaging	Het
Rabep2	C	A	7: 126,434,293		probably benign	Het
Rbm48	A	C	5: 3,595,444	V80G	probably damaging	Het
Rhou	G	T	8: 123,654,109	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,602,042	D45G	probably benign	Het
Rusc1	A	G	3: 89,089,082	S109P	probably damaging	Het
Ryr3	T	C	2: 112,757,667	D2643G	possibly damaging	Het
Sik2	T	C	9: 50,899,403	E471G	probably benign	Het
Sipa1	A	G	19: 5,659,378	S310P	probably damaging	Het
Spen	T	C	4: 141,476,276	E1680G	unknown	Het
Steap3	C	T	1: 120,243,767		probably null	Het
Tmeff2	T	A	1: 51,071,541	C171*	probably null	Het
Tmem138	A	T	19: 10,575,270	M33K	probably benign	Het
Trappc11	C	A	8: 47,510,963	V601L	possibly damaging	Het
Ttc30a2	T	C	2: 75,977,077	M364V	probably benign	Het
Ttll4	C	A	1: 74,679,286	H99N	probably damaging	Het
Uchl4	A	T	9: 64,235,740	K168*	probably null	Het
Wdr17	C	T	8: 54,653,878		probably null	Het
Xpo1	A	G	11: 23,295,977	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,591,125	K712N	probably damaging	Het

Other mutations in Ccdc69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Ccdc69	APN	11	55052437	missense	possibly damaging	0.85
R0140:Ccdc69	UTSW	11	55050499	missense	possibly damaging	0.83
R0433:Ccdc69	UTSW	11	55052890	splice site	probably null
R1334:Ccdc69	UTSW	11	55052979	missense	probably damaging	0.96
R1749:Ccdc69	UTSW	11	55051153	missense	probably null	1.00
R2013:Ccdc69	UTSW	11	55051157	missense	probably benign	0.03
R2082:Ccdc69	UTSW	11	55052389	missense	probably damaging	1.00
R5191:Ccdc69	UTSW	11	55052893	critical splice donor site	probably null
R5768:Ccdc69	UTSW	11	55055030	missense	possibly damaging	0.81
R5896:Ccdc69	UTSW	11	55052890	splice site	probably null
R7476:Ccdc69	UTSW	11	55051198	missense	possibly damaging	0.89
RF005:Ccdc69	UTSW	11	55060523	missense	probably damaging	1.00
RF024:Ccdc69	UTSW	11	55060523	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCCAGGAGATGCTTTCAAAAGG -3'
(R):5'- TCCCATCAGTCATAGAGGAGGTG -3'

Sequencing Primer
(F):5'- TTTCAAAAGGAAAGAAAAATGGGTG -3'
(R):5'- AGGAGCCCCCTTGAGTTTC -3'

Posted On

2016-07-06