Mutagenetix > Incidental Mutation

Incidental Mutation 'R5847:Ccdc63'

453664

Institutional Source

Beutler Lab

Gene Symbol

Ccdc63

Ensembl Gene

ENSMUSG00000043036

Gene Name

coiled-coil domain containing 63

Synonyms

4921511C16Rik

MMRRC Submission

044065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R5847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122246115-122276143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122254908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 368 (M368L)

Ref Sequence

ENSEMBL: ENSMUSP00000050582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058960] [ENSMUST00000111751] [ENSMUST00000152389]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058960
AA Change: M368L

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
AA Change: M368L

Domain	Start	End	E-Value	Type
coiled coil region	140	158	N/A	INTRINSIC
coiled coil region	209	285	N/A	INTRINSIC
low complexity region	308	318	N/A	INTRINSIC
coiled coil region	393	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111751

SMART Domains

Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
EFh	28	56	2.81e-5	SMART
EFh	98	126	4.53e0	SMART
EFh	134	162	3.97e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152389

Meta Mutation Damage Score

0.1369

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,302,521 (GRCm39)	Y964F	probably damaging	Het
Akap3	T	A	6: 126,842,521 (GRCm39)	L380Q	probably damaging	Het
Alpk1	A	G	3: 127,473,723 (GRCm39)	I760T	probably benign	Het
Aoc1l2	T	A	6: 48,910,412 (GRCm39)	F701L	probably damaging	Het
Arhgap20	G	A	9: 51,736,276 (GRCm39)		probably benign	Het
Cacng3	T	C	7: 122,361,532 (GRCm39)	F113S	possibly damaging	Het
Ccdc158	G	T	5: 92,775,339 (GRCm39)	N955K	probably benign	Het
Cnot2	T	C	10: 116,363,851 (GRCm39)	T18A	probably damaging	Het
Ctnna2	A	T	6: 76,950,820 (GRCm39)	D550E	possibly damaging	Het
Cyp2c37	C	T	19: 40,000,176 (GRCm39)	R433W	probably damaging	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dek	A	G	13: 47,255,077 (GRCm39)		probably benign	Het
Dnah9	CAGTTGCTTAAA	CA	11: 65,986,066 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,671,250 (GRCm39)	Y23C	probably damaging	Het
Edar	T	A	10: 58,439,001 (GRCm39)	S344C	probably damaging	Het
Epg5	T	C	18: 78,073,270 (GRCm39)	V2431A	probably benign	Het
Evc2	C	T	5: 37,562,068 (GRCm39)		probably benign	Het
Idh3b	A	T	2: 130,125,948 (GRCm39)	D41E	probably benign	Het
Igkv8-24	A	T	6: 70,193,956 (GRCm39)	V84D	probably damaging	Het
Iqca1l	A	T	5: 24,749,164 (GRCm39)	L778Q	probably benign	Het
Mgam	T	C	6: 40,660,989 (GRCm39)	I1118T	probably benign	Het
Mtmr3	A	G	11: 4,432,925 (GRCm39)	V1116A	probably damaging	Het
Myoc	A	G	1: 162,466,936 (GRCm39)	Y35C	probably damaging	Het
Ncr1	A	T	7: 4,347,573 (GRCm39)	D246V	probably benign	Het
Nphp3	A	G	9: 103,880,236 (GRCm39)	E86G	probably damaging	Het
Or2l13b	A	T	16: 19,349,076 (GRCm39)	V198E	probably damaging	Het
Or52e5	A	T	7: 104,719,064 (GRCm39)	Y130F	probably benign	Het
Or8h7	A	C	2: 86,720,676 (GRCm39)	V281G	probably damaging	Het
Pbld1	A	T	10: 62,912,193 (GRCm39)	I275L	probably benign	Het
Pde12	A	G	14: 26,386,786 (GRCm39)	V574A	possibly damaging	Het
Pdxk	G	T	10: 78,280,872 (GRCm39)	D189E	probably benign	Het
Pkhd1	C	A	1: 20,444,960 (GRCm39)	E2276*	probably null	Het
Ppp1r10	A	G	17: 36,237,739 (GRCm39)	N237S	possibly damaging	Het
Rheb	T	A	5: 25,012,067 (GRCm39)	Y131F	probably benign	Het
Rpgrip1l	T	C	8: 92,031,613 (GRCm39)	D88G	probably damaging	Het
Scgb2b33	T	C	7: 32,812,239 (GRCm39)		noncoding transcript	Het
Snx9	C	A	17: 5,974,896 (GRCm39)	N461K	possibly damaging	Het
Tbc1d2b	C	A	9: 90,091,777 (GRCm39)	V842F	probably damaging	Het
Tgfbi	G	A	13: 56,784,418 (GRCm39)	E615K	possibly damaging	Het
Tmem51	A	G	4: 141,759,346 (GRCm39)	M134T	probably damaging	Het
Tox4	A	G	14: 52,524,241 (GRCm39)	D125G	probably damaging	Het
Trappc3	A	T	4: 126,167,771 (GRCm39)	N110I	probably damaging	Het
Trim11	T	A	11: 58,881,419 (GRCm39)	D437E	probably damaging	Het
Ttc23l	T	C	15: 10,537,682 (GRCm39)	N196S	probably benign	Het
Wnk1	C	A	6: 119,969,369 (GRCm39)	G362V	probably damaging	Het
Wwc1	A	G	11: 35,758,153 (GRCm39)	F731S	probably damaging	Het
Wwp1	A	T	4: 19,662,174 (GRCm39)	D140E	possibly damaging	Het
Zfp24	G	A	18: 24,151,095 (GRCm39)	P17L	possibly damaging	Het
Zfp354b	T	C	11: 50,814,043 (GRCm39)	E294G	probably damaging	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zfp868	T	C	8: 70,064,303 (GRCm39)	H344R	probably damaging	Het

Other mutations in Ccdc63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Ccdc63	APN	5	122,262,982 (GRCm39)	splice site	probably benign
IGL01660:Ccdc63	APN	5	122,249,027 (GRCm39)	missense	possibly damaging	0.81
IGL01773:Ccdc63	APN	5	122,251,208 (GRCm39)	missense	possibly damaging	0.93
IGL02341:Ccdc63	APN	5	122,251,261 (GRCm39)	missense	probably benign	0.00
IGL03030:Ccdc63	APN	5	122,260,876 (GRCm39)	missense	probably benign	0.00
IGL02991:Ccdc63	UTSW	5	122,246,275 (GRCm39)	missense	probably benign	0.10
R0267:Ccdc63	UTSW	5	122,255,107 (GRCm39)	splice site	probably benign
R0961:Ccdc63	UTSW	5	122,249,009 (GRCm39)	missense	possibly damaging	0.75
R1333:Ccdc63	UTSW	5	122,246,224 (GRCm39)	missense	probably benign	0.04
R1802:Ccdc63	UTSW	5	122,267,940 (GRCm39)	missense	probably damaging	1.00
R1999:Ccdc63	UTSW	5	122,265,628 (GRCm39)	missense	possibly damaging	0.72
R2048:Ccdc63	UTSW	5	122,268,350 (GRCm39)	critical splice donor site	probably null
R2150:Ccdc63	UTSW	5	122,265,628 (GRCm39)	missense	possibly damaging	0.72
R2350:Ccdc63	UTSW	5	122,260,948 (GRCm39)	missense	probably benign	0.04
R4049:Ccdc63	UTSW	5	122,260,813 (GRCm39)	missense	probably damaging	0.99
R5072:Ccdc63	UTSW	5	122,259,118 (GRCm39)	missense	probably benign	0.28
R6031:Ccdc63	UTSW	5	122,267,799 (GRCm39)	missense	possibly damaging	0.74
R6031:Ccdc63	UTSW	5	122,267,799 (GRCm39)	missense	possibly damaging	0.74
R6249:Ccdc63	UTSW	5	122,263,062 (GRCm39)	missense	probably benign	0.17
R6782:Ccdc63	UTSW	5	122,249,077 (GRCm39)	nonsense	probably null
R7073:Ccdc63	UTSW	5	122,249,073 (GRCm39)	missense	probably benign	0.00
R7250:Ccdc63	UTSW	5	122,260,906 (GRCm39)	missense	probably damaging	1.00
R7448:Ccdc63	UTSW	5	122,246,245 (GRCm39)	missense	probably benign	0.00
R7584:Ccdc63	UTSW	5	122,251,267 (GRCm39)	missense	possibly damaging	0.73
R7773:Ccdc63	UTSW	5	122,247,335 (GRCm39)	missense	probably damaging	1.00
R7856:Ccdc63	UTSW	5	122,268,006 (GRCm39)	missense	probably benign	0.00
R8114:Ccdc63	UTSW	5	122,251,244 (GRCm39)	missense	possibly damaging	0.87
R8933:Ccdc63	UTSW	5	122,251,265 (GRCm39)	missense	probably damaging	1.00
R9036:Ccdc63	UTSW	5	122,247,346 (GRCm39)	missense	probably benign	0.08
R9136:Ccdc63	UTSW	5	122,259,146 (GRCm39)	missense	probably damaging	1.00
X0028:Ccdc63	UTSW	5	122,247,238 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- ACTTTTAAAAGTGCCTTCCTGG -3'
(R):5'- TCTCCCATCCAGATGTCAAATC -3'

Sequencing Primer
(F):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'
(R):5'- TCCAGATGTCAAATCCAAGAAGCTTG -3'

Posted On

2017-02-10