Mutagenetix > Incidental Mutation

Incidental Mutation 'R5768:Ccdc69'

446395

Institutional Source

Beutler Lab

Gene Symbol

Ccdc69

Ensembl Gene

ENSMUSG00000049588

Gene Name

coiled-coil domain containing 69

Synonyms

D11Ertd461e, 2210021E03Rik

MMRRC Submission

043368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54940557-54968957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54945856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 50 (N50S)

Ref Sequence

ENSEMBL: ENSMUSP00000104508 (fasta)

Gene Model

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

AlphaFold

Q3TCJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055040
AA Change: N50S

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054840
Gene: ENSMUSG00000049588
AA Change: N50S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108880
AA Change: N50S

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104508
Gene: ENSMUSG00000049588
AA Change: N50S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,177,426 (GRCm39)	T561I	probably benign	Het
Akp3	T	C	1: 87,054,844 (GRCm39)	I393T	probably damaging	Het
Atxn10	A	T	15: 85,277,621 (GRCm39)	I363F	probably benign	Het
BC004004	A	T	17: 29,501,709 (GRCm39)	S83C	probably damaging	Het
Bin1	T	A	18: 32,559,264 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,674,641 (GRCm39)	I541T	probably damaging	Het
Cand1	A	G	10: 119,046,910 (GRCm39)	V860A	probably benign	Het
Cd209d	T	A	8: 3,921,968 (GRCm39)	T235S	probably benign	Het
Cdhr3	G	T	12: 33,096,685 (GRCm39)	T591K	possibly damaging	Het
Cherp	C	T	8: 73,216,957 (GRCm39)	D658N	probably damaging	Het
Clip4	T	A	17: 72,113,494 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,492,242 (GRCm39)	V195M	probably damaging	Het
Cst11	A	T	2: 148,612,387 (GRCm39)	Y83*	probably null	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Ddi2	A	T	4: 141,412,901 (GRCm39)	L4M	probably damaging	Het
Dip2b	C	A	15: 100,055,826 (GRCm39)	P393T	probably benign	Het
Dnmt3a	G	A	12: 3,935,660 (GRCm39)		probably null	Het
Elf5	C	T	2: 103,279,367 (GRCm39)	S196L	probably damaging	Het
Eps15	C	G	4: 109,220,373 (GRCm39)		probably null	Het
Fra10ac1	T	C	19: 38,195,734 (GRCm39)	E163G	probably benign	Het
Gc	T	C	5: 89,589,125 (GRCm39)	T213A	probably damaging	Het
Grpel1	A	T	5: 36,622,503 (GRCm39)		probably benign	Het
Gsdme	G	A	6: 50,196,280 (GRCm39)	Q377*	probably null	Het
Hira	T	C	16: 18,753,768 (GRCm39)		probably benign	Het
Hsd11b1	T	A	1: 192,922,554 (GRCm39)	I168F	probably damaging	Het
Htr6	G	A	4: 138,789,015 (GRCm39)	R347W	probably damaging	Het
Ipp	A	C	4: 116,367,967 (GRCm39)	T67P	probably damaging	Het
Lrfn5	G	A	12: 61,886,509 (GRCm39)	R99Q	probably benign	Het
Madd	T	A	2: 90,998,174 (GRCm39)	I649F	probably damaging	Het
Map2k7	T	A	8: 4,295,757 (GRCm39)	D368E	probably benign	Het
Mppe1	T	G	18: 67,358,889 (GRCm39)	T360P	possibly damaging	Het
Msi2	A	G	11: 88,608,564 (GRCm39)	F2L	probably damaging	Het
Nectin3	T	C	16: 46,279,180 (GRCm39)	Q266R	probably damaging	Het
Nfasc	T	C	1: 132,532,883 (GRCm39)	H691R	probably benign	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or4c117	T	C	2: 88,955,793 (GRCm39)	E94G	probably benign	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Papss2	G	A	19: 32,638,119 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,172,736 (GRCm39)	K549E	probably benign	Het
Plekha6	A	G	1: 133,208,116 (GRCm39)	T596A	probably benign	Het
Polr2f	A	G	15: 79,035,845 (GRCm39)	D117G	probably damaging	Het
Psd	T	C	19: 46,301,178 (GRCm39)	E381G	possibly damaging	Het
Rfx6	G	A	10: 51,602,976 (GRCm39)	R831H	probably damaging	Het
Rpp25l	A	T	4: 41,712,649 (GRCm39)	L42Q	probably damaging	Het
Ryr3	T	C	2: 112,583,442 (GRCm39)	M2810V	probably benign	Het
Sdk1	C	A	5: 142,129,626 (GRCm39)	L1616I	probably benign	Het
Spock2	T	A	10: 59,962,029 (GRCm39)	F215I	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tchh	A	T	3: 93,353,488 (GRCm39)	E976V	unknown	Het
Tgfbr3	T	C	5: 107,297,761 (GRCm39)	E213G	probably benign	Het
Tmed1	T	C	9: 21,420,619 (GRCm39)	D71G	probably benign	Het
Tmtc4	T	A	14: 123,170,565 (GRCm39)	K527N	possibly damaging	Het
Zfhx2	T	C	14: 55,311,822 (GRCm39)	T291A	probably benign	Het

Other mutations in Ccdc69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Ccdc69	APN	11	54,943,263 (GRCm39)	missense	possibly damaging	0.85
R0140:Ccdc69	UTSW	11	54,941,325 (GRCm39)	missense	possibly damaging	0.83
R0433:Ccdc69	UTSW	11	54,943,716 (GRCm39)	splice site	probably null
R1334:Ccdc69	UTSW	11	54,943,805 (GRCm39)	missense	probably damaging	0.96
R1749:Ccdc69	UTSW	11	54,941,979 (GRCm39)	missense	probably null	1.00
R2013:Ccdc69	UTSW	11	54,941,983 (GRCm39)	missense	probably benign	0.03
R2082:Ccdc69	UTSW	11	54,943,215 (GRCm39)	missense	probably damaging	1.00
R5176:Ccdc69	UTSW	11	54,951,296 (GRCm39)	missense	probably benign	0.00
R5191:Ccdc69	UTSW	11	54,943,719 (GRCm39)	critical splice donor site	probably null
R5896:Ccdc69	UTSW	11	54,943,716 (GRCm39)	splice site	probably null
R7476:Ccdc69	UTSW	11	54,942,024 (GRCm39)	missense	possibly damaging	0.89
R9489:Ccdc69	UTSW	11	54,945,856 (GRCm39)	missense	possibly damaging	0.81
RF005:Ccdc69	UTSW	11	54,951,349 (GRCm39)	missense	probably damaging	1.00
RF024:Ccdc69	UTSW	11	54,951,349 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAATCTAGCACTTCAGCC -3'
(R):5'- TTAAGCCCTACAAATGCTTAACCG -3'

Sequencing Primer
(F):5'- AGCCCCCTATCATCTAGGC -3'
(R):5'- GAATGTCAATTGCGAGCTCACTG -3'

Posted On

2016-11-21