Incidental Mutation 'IGL03245:Cutc'
| ID |
414378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cutc
|
| Ensembl Gene |
ENSMUSG00000025193 |
| Gene Name |
cutC copper transporter |
| Synonyms |
2310039I18Rik, CGI-32 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
IGL03245
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43741462-43757077 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43756621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 228
(S228P)
|
| 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: S228P
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026199
Gene: ENSMUSG00000025193
AA Change: S228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CutC
|
25 |
216 |
1.1e-71 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112047
AA Change: S238P
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107678
Gene: ENSMUSG00000025193
AA Change: S238P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CutC
|
25 |
226 |
7.8e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123564
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153295
AA Change: S236P
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118906
Gene: ENSMUSG00000025193
AA Change: S236P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CutC
|
23 |
224 |
7.7e-82 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
T |
7: 75,259,500 (GRCm39) |
A708V |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,279,631 (GRCm39) |
N749S |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,370,269 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,402,915 (GRCm39) |
S2334R |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,360,500 (GRCm39) |
T1741A |
probably benign |
Het |
| Cuedc1 |
T |
C |
11: 88,068,088 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,827,056 (GRCm39) |
N1013K |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,250,229 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,009,503 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
T |
C |
10: 105,662,358 (GRCm39) |
N204S |
possibly damaging |
Het |
| Micall2 |
G |
A |
5: 139,705,014 (GRCm39) |
H107Y |
probably damaging |
Het |
| Or5d16 |
T |
A |
2: 87,773,086 (GRCm39) |
R295S |
possibly damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,294 (GRCm39) |
I225F |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,521,076 (GRCm39) |
V279A |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,264,588 (GRCm39) |
I331N |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,580,827 (GRCm39) |
F898S |
probably damaging |
Het |
| Smr2 |
A |
G |
5: 88,256,709 (GRCm39) |
N129S |
probably benign |
Het |
| Tmeff2 |
T |
C |
1: 51,220,976 (GRCm39) |
F317S |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,855,065 (GRCm39) |
E1908V |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Xpo7 |
T |
A |
14: 70,925,734 (GRCm39) |
D436V |
probably damaging |
Het |
| Zfp804b |
C |
A |
5: 6,822,253 (GRCm39) |
S234I |
possibly damaging |
Het |
|
| Other mutations in Cutc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0028:Cutc
|
UTSW |
19 |
43,753,408 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
2016-08-02 |
Incidental Mutation