Mutagenetix > Incidental Mutation

Incidental Mutation 'P0028:Cutc'

15779

Institutional Source

Beutler Lab

Gene Symbol

Cutc

Ensembl Gene

ENSMUSG00000025193

Gene Name

cutC copper transporter

Synonyms

2310039I18Rik, CGI-32

MMRRC Submission

038281-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

P0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43741462-43757077 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43753408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 184 (R184G)

Ref Sequence

ENSEMBL: ENSMUSP00000026199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026199] [ENSMUST00000112047] [ENSMUST00000153295]

AlphaFold

Q9D8X1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026199
AA Change: R184G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026199
Gene: ENSMUSG00000025193
AA Change: R184G

Domain	Start	End	E-Value	Type
Pfam:CutC	25	216	1.1e-71	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112047
AA Change: R194G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107678
Gene: ENSMUSG00000025193
AA Change: R194G

Domain	Start	End	E-Value	Type
Pfam:CutC	25	226	7.8e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123564

Predicted Effect

probably benign
Transcript: ENSMUST00000153295
AA Change: R192G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118906
Gene: ENSMUSG00000025193
AA Change: R192G

Domain	Start	End	E-Value	Type
Pfam:CutC	23	224	7.7e-82	PFAM

Meta Mutation Damage Score

0.4563

Coding Region Coverage

1x: 85.4%
3x: 79.0%
10x: 59.9%
20x: 38.6%

Validation Efficiency

78% (43/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 122,885,900 (GRCm39)		probably benign	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Cc2d2a	A	G	5: 43,841,541 (GRCm39)	R186G	probably benign	Het
Celsr1	G	A	15: 85,806,436 (GRCm39)	R974W	probably damaging	Het
Ddx24	T	C	12: 103,374,634 (GRCm39)	N850S	probably benign	Het
Dock1	T	G	7: 134,601,053 (GRCm39)		probably benign	Het
Dusp12	A	T	1: 170,707,386 (GRCm39)	L234*	probably null	Het
Fam171b	T	A	2: 83,683,783 (GRCm39)	V100E	probably damaging	Het
Mical3	A	T	6: 121,001,650 (GRCm39)	M614K	probably benign	Het
Myh6	C	T	14: 55,201,094 (GRCm39)	V123I	probably benign	Het
Nbeal1	A	G	1: 60,331,096 (GRCm39)	Y2235C	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Raf1	G	A	6: 115,608,166 (GRCm39)		probably benign	Het
Rb1	C	A	14: 73,502,068 (GRCm39)	R439L	probably damaging	Het
Rcsd1	G	A	1: 165,483,566 (GRCm39)	R142W	probably damaging	Het
Rtp1	G	C	16: 23,248,116 (GRCm39)	W63S	probably damaging	Het
Setd2	A	G	9: 110,403,022 (GRCm39)	T1888A	probably benign	Het
Srp68	C	A	11: 116,151,746 (GRCm39)	Q283H	probably damaging	Het
Unc13b	T	A	4: 43,256,225 (GRCm39)	C3927S	probably damaging	Het
Zfp831	A	G	2: 174,487,139 (GRCm39)	K605E	possibly damaging	Het

Other mutations in Cutc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03245:Cutc	APN	19	43,756,621 (GRCm39)	missense	possibly damaging	0.83
PIT4305001:Cutc	UTSW	19	43,756,708 (GRCm39)	missense	probably damaging	0.99
R0095:Cutc	UTSW	19	43,741,638 (GRCm39)	missense	probably benign
R0479:Cutc	UTSW	19	43,756,655 (GRCm39)	missense	probably damaging	1.00
R5635:Cutc	UTSW	19	43,744,069 (GRCm39)	missense	probably benign	0.09
R5898:Cutc	UTSW	19	43,748,468 (GRCm39)	missense	probably benign	0.00
R6150:Cutc	UTSW	19	43,748,328 (GRCm39)	missense	probably damaging	1.00
R6217:Cutc	UTSW	19	43,748,436 (GRCm39)	missense	probably damaging	0.99
R6392:Cutc	UTSW	19	43,748,489 (GRCm39)	missense	possibly damaging	0.58
R7573:Cutc	UTSW	19	43,748,382 (GRCm39)	missense	probably benign	0.03
R8400:Cutc	UTSW	19	43,741,644 (GRCm39)	missense	probably benign
R8817:Cutc	UTSW	19	43,744,113 (GRCm39)	missense	probably benign	0.33
R9133:Cutc	UTSW	19	43,755,727 (GRCm39)	missense	possibly damaging	0.93
R9789:Cutc	UTSW	19	43,756,699 (GRCm39)	missense	probably benign	0.00

Posted On

2013-01-04