Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02838:Ccdc60'

361749

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: 0.050) question?

Stock #

IGL02838

Quality Score

Status

Chromosome

Chromosomal Location

116263640-116427059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116272169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 422 (S422P)

Ref Sequence

ENSEMBL: ENSMUSP00000049912 (fasta)

Gene Model

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

AlphaFold

Q8C4J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050178
AA Change: S422P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049912
Gene: ENSMUSG00000043913
AA Change: S422P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127792

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl4a	T	C	12: 40,086,303 (GRCm39)	E148G	probably benign	Het
AW551984	A	T	9: 39,505,939 (GRCm39)	F419L	probably damaging	Het
Brpf3	G	A	17: 29,054,758 (GRCm39)	R1100Q	probably benign	Het
Cacna1e	A	G	1: 154,321,394 (GRCm39)	C1222R	probably damaging	Het
Cacna2d3	T	A	14: 29,022,785 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,502,567 (GRCm39)	M775L	probably benign	Het
Cdh10	A	T	15: 18,899,849 (GRCm39)	N59Y	probably damaging	Het
Cfap61	T	A	2: 145,789,084 (GRCm39)	C29*	probably null	Het
Fgd5	T	A	6: 91,964,655 (GRCm39)	M138K	probably benign	Het
Gpr107	G	A	2: 31,104,329 (GRCm39)	G545S	probably benign	Het
Greb1l	G	A	18: 10,560,430 (GRCm39)	A1897T	probably damaging	Het
Hcls1	A	G	16: 36,782,781 (GRCm39)	D439G	probably damaging	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Itga5	C	T	15: 103,260,036 (GRCm39)	A619T	probably damaging	Het
Maml3	A	G	3: 51,597,511 (GRCm39)	F412L	probably damaging	Het
Mis18bp1	T	C	12: 65,183,600 (GRCm39)	Y924C	probably damaging	Het
Mtss1	T	C	15: 58,953,364 (GRCm39)	I5V	probably benign	Het
Ninl	A	T	2: 150,797,631 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nts	C	T	10: 102,318,290 (GRCm39)	V138M	probably damaging	Het
Or4q3	A	G	14: 50,583,312 (GRCm39)	S165P	probably damaging	Het
Or5b116	T	A	19: 13,423,299 (GRCm39)	S308T	probably benign	Het
Pard3	A	G	8: 128,153,128 (GRCm39)	R900G	probably damaging	Het
Rbfa	T	C	18: 80,236,050 (GRCm39)	H233R	probably benign	Het
Rundc3a	T	A	11: 102,288,521 (GRCm39)		probably benign	Het
Setdb1	G	T	3: 95,244,579 (GRCm39)		probably null	Het
Synpo	T	A	18: 60,736,872 (GRCm39)	N358I	probably damaging	Het
Tnxb	A	T	17: 34,908,606 (GRCm39)	T1543S	possibly damaging	Het
Ugt1a8	T	A	1: 88,016,399 (GRCm39)	Y271N	probably benign	Het
Vmn2r105	A	C	17: 20,447,847 (GRCm39)	F326V	probably damaging	Het
Vps13c	G	A	9: 67,883,133 (GRCm39)	R3560H	probably damaging	Het
Vps13d	C	T	4: 144,801,595 (GRCm39)	R3510Q	probably benign	Het
Zcchc8	A	T	5: 123,857,546 (GRCm39)		probably benign	Het

Other mutations in Ccdc60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03095:Ccdc60	APN	5	116,284,274 (GRCm39)	splice site	probably benign
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

2015-12-18