Mutagenetix > Incidental Mutation

Incidental Mutation 'R5795:Ccs'

447202

Institutional Source

Beutler Lab

Gene Symbol

Ccs

Ensembl Gene

ENSMUSG00000034108

Gene Name

copper chaperone for superoxide dismutase

Synonyms

CCS, Ccsd

MMRRC Submission

043386-MU

Accession Numbers

Essential gene?

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

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4875394-4889326 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 4883367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035486 (fasta)

Gene Model

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

AlphaFold

Q9WU84

Predicted Effect

probably null
Transcript: ENSMUST00000037246

SMART Domains

Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108

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: 98.5%
10x: 96.8%
20x: 94.0%

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
Acp3	A	G	9: 104,186,688 (GRCm39)	V261A	probably benign	Het
Adipor1	C	A	1: 134,352,641 (GRCm39)	N137K	probably damaging	Het
Ahnak	A	T	19: 8,989,746 (GRCm39)	K3677*	probably null	Het
Ankrd24	C	A	10: 81,480,937 (GRCm39)		probably benign	Het
Appl1	G	T	14: 26,664,773 (GRCm39)	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,015,761 (GRCm39)	F249L	possibly damaging	Het
Brat1	G	T	5: 140,698,827 (GRCm39)	A275S	probably benign	Het
C5ar1	T	C	7: 15,982,319 (GRCm39)	K234E	possibly damaging	Het
Cblif	A	G	19: 11,737,740 (GRCm39)	T384A	probably damaging	Het
Chmp5	T	G	4: 40,950,562 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,922,552 (GRCm39)	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Csf3	G	T	11: 98,592,853 (GRCm39)	C72F	probably damaging	Het
Dbndd1	A	G	8: 124,236,619 (GRCm39)	I83T	probably damaging	Het
Ercc6	A	G	14: 32,248,309 (GRCm39)	K287E	probably damaging	Het
F5	C	T	1: 163,979,578 (GRCm39)	T16I	probably benign	Het
Hephl1	C	T	9: 14,981,056 (GRCm39)	G792E	probably damaging	Het
Hmmr	T	A	11: 40,612,733 (GRCm39)	D158V	probably damaging	Het
Hsd11b1	A	G	1: 192,922,940 (GRCm39)	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Irf7	G	A	7: 140,845,029 (GRCm39)	P118L	probably damaging	Het
Lama1	A	G	17: 68,103,722 (GRCm39)	N1981S	probably benign	Het
Lrp4	A	G	2: 91,304,816 (GRCm39)	D224G	probably benign	Het
Mink1	T	C	11: 70,498,616 (GRCm39)	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,491,557 (GRCm39)	V412M	probably damaging	Het
Muc5b	G	A	7: 141,425,478 (GRCm39)	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,890,415 (GRCm39)	E34K	probably damaging	Het
Oaf	T	A	9: 43,135,241 (GRCm39)	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,252,824 (GRCm39)	G278D	probably damaging	Het
Or2h1	A	G	17: 37,404,661 (GRCm39)	L35P	probably damaging	Het
Or5b12	A	G	19: 12,897,188 (GRCm39)	F162L	possibly damaging	Het
Paf1	T	G	7: 28,096,043 (GRCm39)	M250R	probably damaging	Het
Pcdh8	T	C	14: 80,008,420 (GRCm39)	T48A	possibly damaging	Het
Pdzph1	A	G	17: 59,192,862 (GRCm39)	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,512,875 (GRCm39)	S586P	probably damaging	Het
Polr3b	A	T	10: 84,464,116 (GRCm39)	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,348,475 (GRCm39)	M274T	possibly damaging	Het
Slc31a2	T	C	4: 62,215,289 (GRCm39)	V112A	probably damaging	Het
Spire1	A	T	18: 67,628,265 (GRCm39)	S412T	probably benign	Het
Tanc1	A	G	2: 59,637,926 (GRCm39)	T876A	possibly damaging	Het
Tango6	T	A	8: 107,444,709 (GRCm39)	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,886,621 (GRCm39)	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,091,158 (GRCm39)	M125K	possibly damaging	Het
Traf5	T	C	1: 191,731,807 (GRCm39)	S345G	probably benign	Het
Ush2a	A	T	1: 188,175,594 (GRCm39)	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,250,372 (GRCm39)	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,250,544 (GRCm39)	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,448,998 (GRCm39)	C60S	probably benign	Het
Zfp316	A	T	5: 143,248,594 (GRCm39)	D217E	unknown	Het
Zfp456	A	T	13: 67,515,039 (GRCm39)	D222E	probably benign	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
IGL01543:Ccs	APN	19	4,884,269 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCCGAGGAGTAAACAACC -3'
(R):5'- CCTTGCAGAGAATCTGGGAG -3'

Sequencing Primer
(F):5'- TGTGTCCAGGAGTCACCC -3'
(R):5'- AGCAGCAGTGGCCATTCTG -3'

Posted On

2016-12-15