Mutagenetix > Incidental Mutations

Incidental Mutation 'R0928:Ccs'

80703

Institutional Source

Beutler Lab

Gene Symbol

Ccs

Ensembl Gene

ENSMUSG00000034108

Gene Name

copper chaperone for superoxide dismutase

Synonyms

CCS, Ccsd

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R0928 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4825366-4839322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4825960 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 184 (E184G)

Ref Sequence

ENSEMBL: ENSMUSP00000035486 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037246
AA Change: E184G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108
AA Change: E184G

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

1x: 99.2%
3x: 98.1%
10x: 93.0%
20x: 75.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,624,582	D745G	possibly damaging	Het
4931406P16Rik	A	T	7: 34,248,246		probably null	Het
Abca12	T	A	1: 71,349,174	D179V	probably benign	Het
Abcc1	T	C	16: 14,389,985		probably null	Het
Adad1	G	A	3: 37,076,740		probably null	Het
Apobec4	T	C	1: 152,756,277	Y19H	probably damaging	Het
Bco2	T	A	9: 50,545,931	T104S	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
Ccdc144b	A	C	3: 36,025,366	N258K	possibly damaging	Het
Cfap70	T	G	14: 20,443,919	K97N	probably damaging	Het
Daam2	T	C	17: 49,488,227	I313V	probably benign	Het
Dach1	T	C	14: 97,915,832	S467G	probably damaging	Het
Dnah11	A	G	12: 118,045,562	S2122P	probably damaging	Het
Dnah3	T	A	7: 120,030,051	D1427V	probably damaging	Het
Dnaic1	T	C	4: 41,602,566	F97L	possibly damaging	Het
Dsc1	A	T	18: 20,110,249		probably null	Het
En2	A	T	5: 28,170,331	K291*	probably null	Het
Eps15	T	C	4: 109,312,963	V154A	possibly damaging	Het
Etnk1	A	G	6: 143,184,703	I183V	probably benign	Het
Fcrlb	A	T	1: 170,907,940	V255D	possibly damaging	Het
Fry	A	T	5: 150,437,084	E52V	probably damaging	Het
Gm8251	C	A	1: 44,057,228	S1570I	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,885	Y152C	probably damaging	Het
Hao1	C	A	2: 134,505,616	L256F	possibly damaging	Het
Helz	T	A	11: 107,626,693	I685K	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Izumo2	A	T	7: 44,715,423	I171F	possibly damaging	Het
Krt83	C	A	15: 101,491,280	C57F	probably benign	Het
Mapkbp1	A	G	2: 120,015,368	H400R	probably benign	Het
Megf6	T	A	4: 154,177,047	V43E	probably damaging	Het
Mut	T	C	17: 40,937,283	I67T	probably benign	Het
Ninl	A	T	2: 150,963,475	V396E	probably damaging	Het
Nvl	A	T	1: 181,093,902	V844E	probably benign	Het
Olfr11	C	T	13: 21,638,956	C189Y	probably damaging	Het
P2rx3	A	T	2: 85,035,298	M1K	probably null	Het
Pabpn1l	T	C	8: 122,622,619	T20A	probably benign	Het
Ppp3r2	C	A	4: 49,681,439		probably null	Het
Prmt6	C	T	3: 110,250,682	G97D	probably damaging	Het
Prmt9	T	C	8: 77,581,176	V823A	probably damaging	Het
Skint11	C	A	4: 114,244,601	D79E	possibly damaging	Het
Slc17a8	T	A	10: 89,598,683	H194L	probably damaging	Het
Slco6c1	T	A	1: 97,104,848	I293F	possibly damaging	Het
Tcl1b4	A	T	12: 105,202,606	H43L	probably benign	Het
Tm9sf1	T	C	14: 55,636,457	D528G	probably damaging	Het
Tpbpb	C	T	13: 60,902,175	V47I	probably benign	Het
Ttc37	T	G	13: 76,113,592	L142W	probably damaging	Het
Ttn	G	T	2: 76,907,532		probably benign	Het
Usp28	T	G	9: 49,030,891	S341A	possibly damaging	Het
Vwa5a	T	C	9: 38,728,007	Y345H	probably damaging	Het
Wdr11	C	A	7: 129,606,653	D377E	probably damaging	Het
Zer1	A	G	2: 30,101,763		probably null	Het

Other mutations in Ccs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Ccs	APN	19	4825608	missense	possibly damaging	0.94
IGL01543:Ccs	APN	19	4834241	missense	possibly damaging	0.95
R0128:Ccs	UTSW	19	4825626	missense	probably damaging	1.00
R4300:Ccs	UTSW	19	4834257	missense	probably benign	0.02
R4655:Ccs	UTSW	19	4839204	missense	probably benign
R5391:Ccs	UTSW	19	4833482	missense	probably benign
R5795:Ccs	UTSW	19	4833339	critical splice donor site	probably null
R6054:Ccs	UTSW	19	4825865	missense	probably benign	0.43
R7175:Ccs	UTSW	19	4833362	missense	probably damaging	1.00
R7361:Ccs	UTSW	19	4833350	missense	probably benign
R7681:Ccs	UTSW	19	4832830	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCAATGATGCCACAGGCCAA -3'
(R):5'- GTGGCTTTCTGCCCAGGATTTCA -3'

Sequencing Primer
(F):5'- GTGTGATCAGCAAAAGGCTCTTC -3'
(R):5'- TTTCCCCTATGGGGTCTCAT -3'

Posted On

2013-11-07