Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03095:Ccdc60'

418553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc60

Ensembl Gene

ENSMUSG00000043913

Gene Name

coiled-coil domain containing 60

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03095

Quality Score

Status

Chromosome

Chromosomal Location

116263640-116427059 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 116284274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050178]

AlphaFold

Q8C4J0

Predicted Effect

probably benign
Transcript: ENSMUST00000050178

SMART Domains

Protein: ENSMUSP00000049912
Gene: ENSMUSG00000043913

Domain	Start	End	E-Value	Type
Pfam:DUF4698	60	535	6.3e-225	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bche	A	G	3: 73,609,216 (GRCm39)	L70P	probably damaging	Het
Cacna1h	C	A	17: 25,602,752 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,460,371 (GRCm39)	N194D	probably benign	Het
Chodl	T	A	16: 78,738,321 (GRCm39)	D96E	probably damaging	Het
Clca3b	C	A	3: 144,552,671 (GRCm39)	G122*	probably null	Het
Crybg1	T	C	10: 43,865,245 (GRCm39)	I1411V	probably damaging	Het
Dock9	A	C	14: 121,876,940 (GRCm39)	V477G	probably damaging	Het
Fam149a	T	A	8: 45,794,265 (GRCm39)	E632D	probably damaging	Het
Gabra4	A	G	5: 71,781,358 (GRCm39)	V351A	probably damaging	Het
Gen1	T	A	12: 11,298,265 (GRCm39)	I319L	probably benign	Het
Gne	C	A	4: 44,055,211 (GRCm39)	D255Y	probably damaging	Het
Gpr146	A	G	5: 139,378,705 (GRCm39)	H169R	probably benign	Het
Htatip2	A	G	7: 49,409,522 (GRCm39)	E92G	probably benign	Het
Ipcef1	A	G	10: 6,869,732 (GRCm39)	S223P	probably damaging	Het
Kcnmb2	T	A	3: 32,252,276 (GRCm39)	*37R	probably null	Het
Lin54	A	T	5: 100,602,337 (GRCm39)	V400E	probably damaging	Het
Ltbp1	C	A	17: 75,589,413 (GRCm39)	Q511K	possibly damaging	Het
Lyg1	A	G	1: 37,989,849 (GRCm39)		probably benign	Het
Nampt	T	A	12: 32,892,685 (GRCm39)	V324D	possibly damaging	Het
Nat8b-ps	T	G	6: 85,909,950 (GRCm39)		probably benign	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Nfkb1	T	C	3: 135,324,591 (GRCm39)	E179G	possibly damaging	Het
Nlrc5	T	A	8: 95,248,536 (GRCm39)		probably benign	Het
Or12d2	T	A	17: 37,624,664 (GRCm39)	I204F	probably benign	Het
Or8k38	A	T	2: 86,488,775 (GRCm39)	L9Q	possibly damaging	Het
Pcdh15	G	A	10: 74,191,706 (GRCm39)	V601M	probably damaging	Het
Pigc	G	A	1: 161,798,345 (GRCm39)	R109Q	possibly damaging	Het
Plxna2	A	G	1: 194,483,435 (GRCm39)	N1582S	probably damaging	Het
Pros1	C	T	16: 62,728,132 (GRCm39)	Q279*	probably null	Het
Psmb5	A	G	14: 54,854,014 (GRCm39)	S155P	probably damaging	Het
Rock2	T	A	12: 17,003,341 (GRCm39)	D393E	probably benign	Het
Slc25a21	T	C	12: 56,785,410 (GRCm39)	T156A	probably benign	Het
Slc44a1	T	A	4: 53,536,374 (GRCm39)	Y183*	probably null	Het
Sytl2	C	T	7: 90,041,642 (GRCm39)	P580L	probably damaging	Het
Tktl2	G	T	8: 66,964,936 (GRCm39)	V165F	probably damaging	Het
Trim55	A	G	3: 19,728,629 (GRCm39)	E480G	probably benign	Het
Vmn2r92	T	A	17: 18,386,972 (GRCm39)	S104T	possibly damaging	Het
Vps51	C	T	19: 6,120,078 (GRCm39)	R490H	probably damaging	Het
Wdr43	G	A	17: 71,948,282 (GRCm39)	V391I	probably benign	Het
Zranb1	T	G	7: 132,551,635 (GRCm39)	Y121*	probably null	Het

Other mutations in Ccdc60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02838:Ccdc60	APN	5	116,272,169 (GRCm39)	missense	probably damaging	1.00
IGL03235:Ccdc60	APN	5	116,269,205 (GRCm39)	missense	probably benign
R0630:Ccdc60	UTSW	5	116,274,440 (GRCm39)	missense	possibly damaging	0.75
R0740:Ccdc60	UTSW	5	116,328,135 (GRCm39)	missense	probably damaging	1.00
R0959:Ccdc60	UTSW	5	116,318,870 (GRCm39)	missense	probably damaging	0.98
R1061:Ccdc60	UTSW	5	116,310,527 (GRCm39)	missense	possibly damaging	0.78
R1760:Ccdc60	UTSW	5	116,310,532 (GRCm39)	missense	probably damaging	0.99
R1940:Ccdc60	UTSW	5	116,264,224 (GRCm39)	missense	probably damaging	1.00
R1960:Ccdc60	UTSW	5	116,284,243 (GRCm39)	missense	probably benign	0.36
R2190:Ccdc60	UTSW	5	116,295,639 (GRCm39)	missense	probably damaging	1.00
R3856:Ccdc60	UTSW	5	116,310,514 (GRCm39)	missense	probably damaging	1.00
R4866:Ccdc60	UTSW	5	116,310,549 (GRCm39)	missense	probably damaging	1.00
R5015:Ccdc60	UTSW	5	116,426,507 (GRCm39)	missense	probably benign	0.00
R6169:Ccdc60	UTSW	5	116,275,131 (GRCm39)	missense	probably benign	0.16
R6379:Ccdc60	UTSW	5	116,269,082 (GRCm39)	critical splice donor site	probably null
R7081:Ccdc60	UTSW	5	116,264,146 (GRCm39)	missense	probably benign	0.20
R8554:Ccdc60	UTSW	5	116,328,171 (GRCm39)	missense	probably damaging	1.00
R8715:Ccdc60	UTSW	5	116,328,153 (GRCm39)	missense	probably benign
R9213:Ccdc60	UTSW	5	116,328,185 (GRCm39)	missense	probably damaging	1.00
R9599:Ccdc60	UTSW	5	116,269,265 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc60	UTSW	5	116,426,768 (GRCm39)	start gained	probably benign

Posted On

2016-08-02