Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01543:Ccs'

90217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccs

Ensembl Gene

ENSMUSG00000034108

Gene Name

copper chaperone for superoxide dismutase

Synonyms

CCS, Ccsd

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

IGL01543

Quality Score

Status

Chromosome

Chromosomal Location

4875394-4889326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4884269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 61 (E61G)

Ref Sequence

ENSEMBL: ENSMUSP00000035486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037246]

AlphaFold

Q9WU84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037246
AA Change: E61G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108
AA Change: E61G

Domain	Start	End	E-Value	Type
Pfam:HMA	15	72	2.4e-12	PFAM
Pfam:Sod_Cu	93	230	6.7e-43	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased sensitivity to paraquat and reduced female fertility. Ovaries of mutant female animals have reduced numbers of mature ovarian follicles and corpora lutea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,097 (GRCm39)	I204T	probably benign	Het
Abhd16a	T	C	17: 35,310,013 (GRCm39)	S69P	probably damaging	Het
Ampd1	C	T	3: 103,003,029 (GRCm39)	T582I	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arid1a	A	T	4: 133,409,033 (GRCm39)	F1825I	unknown	Het
Asxl1	G	A	2: 153,243,404 (GRCm39)	G1318D	probably benign	Het
B4galnt3	G	A	6: 120,186,273 (GRCm39)	H807Y	probably benign	Het
Bpifb5	G	T	2: 154,075,169 (GRCm39)	V366F	possibly damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Ccdc152	G	A	15: 3,327,606 (GRCm39)	T57I	possibly damaging	Het
Chsy3	G	A	18: 59,543,472 (GRCm39)	W870*	probably null	Het
Col8a1	G	A	16: 57,448,097 (GRCm39)	P471L	unknown	Het
Cyp2j6	A	C	4: 96,414,161 (GRCm39)	V368G	possibly damaging	Het
Dnajc3	T	C	14: 119,198,274 (GRCm39)		probably null	Het
Dpep3	A	T	8: 106,702,814 (GRCm39)	M316K	probably damaging	Het
Galntl5	A	G	5: 25,400,349 (GRCm39)	E126G	probably damaging	Het
Gli1	T	C	10: 127,168,347 (GRCm39)	N502S	probably damaging	Het
Hus1	A	G	11: 8,950,082 (GRCm39)	L213P	probably benign	Het
Hypk	A	G	2: 121,287,776 (GRCm39)		probably null	Het
Igkv4-59	T	A	6: 69,415,345 (GRCm39)	Y70F	probably damaging	Het
Impdh1	A	C	6: 29,203,377 (GRCm39)	V14G	probably damaging	Het
Kif26b	A	G	1: 178,506,526 (GRCm39)	M201V	probably benign	Het
Macf1	A	G	4: 123,295,250 (GRCm39)	I5323T	probably damaging	Het
Mmp16	C	T	4: 18,051,743 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,932,943 (GRCm39)	D5619G	probably benign	Het
Or2ag20	T	C	7: 106,465,125 (GRCm39)	S313P	probably benign	Het
Pcdh7	T	C	5: 57,878,107 (GRCm39)	V554A	probably damaging	Het
Piezo2	T	C	18: 63,203,101 (GRCm39)	E1513G	probably damaging	Het
Rab6b	A	G	9: 103,039,837 (GRCm39)	D75G	probably damaging	Het
Ryr1	T	C	7: 28,790,501 (GRCm39)	Y1435C	probably damaging	Het
Scarf2	A	G	16: 17,620,413 (GRCm39)	N81S	probably damaging	Het
Six5	G	A	7: 18,830,272 (GRCm39)	A300T	possibly damaging	Het
Skap2	T	A	6: 51,989,375 (GRCm39)	N3Y	possibly damaging	Het
Skint6	A	T	4: 112,757,160 (GRCm39)	S734T	probably benign	Het
Slc15a4	A	C	5: 127,680,830 (GRCm39)	H396Q	probably benign	Het
Slco6c1	A	G	1: 97,053,553 (GRCm39)	M116T	possibly damaging	Het
Slfn9	T	C	11: 82,878,775 (GRCm39)	D118G	probably benign	Het
Trim3	T	C	7: 105,262,520 (GRCm39)	D546G	probably damaging	Het
Trpa1	A	G	1: 14,970,300 (GRCm39)	L362P	probably damaging	Het
Vasn	A	G	16: 4,467,756 (GRCm39)	T568A	possibly damaging	Het
Vwa5b2	A	G	16: 20,414,466 (GRCm39)	M281V	probably benign	Het
Wwp2	A	G	8: 108,210,000 (GRCm39)	E126G	probably damaging	Het
Zfp398	G	A	6: 47,842,997 (GRCm39)	G350S	probably damaging	Het

Other mutations in Ccs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Ccs	APN	19	4,875,636 (GRCm39)	missense	possibly damaging	0.94
R0128:Ccs	UTSW	19	4,875,654 (GRCm39)	missense	probably damaging	1.00
R0928:Ccs	UTSW	19	4,875,988 (GRCm39)	missense	probably damaging	1.00
R4300:Ccs	UTSW	19	4,884,285 (GRCm39)	missense	probably benign	0.02
R4655:Ccs	UTSW	19	4,889,232 (GRCm39)	missense	probably benign
R5391:Ccs	UTSW	19	4,883,510 (GRCm39)	missense	probably benign
R5795:Ccs	UTSW	19	4,883,367 (GRCm39)	critical splice donor site	probably null
R6054:Ccs	UTSW	19	4,875,893 (GRCm39)	missense	probably benign	0.43
R7175:Ccs	UTSW	19	4,883,390 (GRCm39)	missense	probably damaging	1.00
R7361:Ccs	UTSW	19	4,883,378 (GRCm39)	missense	probably benign
R7681:Ccs	UTSW	19	4,882,858 (GRCm39)	splice site	probably null
R8846:Ccs	UTSW	19	4,883,480 (GRCm39)	missense	probably damaging	1.00
R9606:Ccs	UTSW	19	4,882,897 (GRCm39)	missense	probably benign	0.02

Posted On

2013-12-03