Incidental Mutation 'IGL03074:Mcu'
| ID |
417619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mcu
|
| Ensembl Gene |
ENSMUSG00000009647 |
| Gene Name |
mitochondrial calcium uniporter |
| Synonyms |
D130073L02Rik, Ccdc109a, 2010012O16Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
59282806-59452514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59303580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 86
(S86P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020312]
|
| AlphaFold |
Q3UMR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020312
AA Change: S86P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: S86P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
|
Pfam:MCU
|
114 |
319 |
3.5e-78 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired calcium-induced permeability transition pore opening, decreased body size and weight, decreased exercise endurance and decreased grip strength. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,201,101 (GRCm39) |
Y433F |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,140 (GRCm39) |
D57V |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,813,050 (GRCm39) |
V1486A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,174,435 (GRCm39) |
|
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,403 (GRCm39) |
L196Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,682 (GRCm39) |
L1097P |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,735,662 (GRCm39) |
V339A |
possibly damaging |
Het |
| Dysf |
T |
A |
6: 84,165,208 (GRCm39) |
S1646T |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,589,935 (GRCm39) |
Y893N |
probably damaging |
Het |
| Etv6 |
A |
T |
6: 134,199,888 (GRCm39) |
N76I |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
| Fgf21 |
T |
C |
7: 45,263,605 (GRCm39) |
T158A |
probably benign |
Het |
| Gcm1 |
T |
C |
9: 77,972,057 (GRCm39) |
S333P |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,604 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,016,136 (GRCm39) |
F782L |
probably benign |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,333 (GRCm39) |
T204A |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,630 (GRCm39) |
C627R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,529,480 (GRCm39) |
V2041A |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,845,929 (GRCm39) |
M379T |
possibly damaging |
Het |
| Naa25 |
T |
C |
5: 121,546,400 (GRCm39) |
|
probably null |
Het |
| Or10ag59 |
T |
A |
2: 87,405,680 (GRCm39) |
L84H |
possibly damaging |
Het |
| Or5b117 |
A |
G |
19: 13,431,417 (GRCm39) |
S155P |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,929,158 (GRCm39) |
H400R |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,353 (GRCm39) |
N278D |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,763,758 (GRCm39) |
T759A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,454 (GRCm39) |
T318A |
probably benign |
Het |
| Rtkn2 |
T |
G |
10: 67,877,551 (GRCm39) |
L537R |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,137,103 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
T |
15: 96,490,405 (GRCm39) |
I124N |
possibly damaging |
Het |
| Sumf2 |
T |
A |
5: 129,888,674 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,324,680 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,710,877 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,913 (GRCm39) |
D692G |
probably benign |
Het |
|
| Other mutations in Mcu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02673:Mcu
|
APN |
10 |
59,303,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Mcu
|
UTSW |
10 |
59,292,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Mcu
|
UTSW |
10 |
59,292,467 (GRCm39) |
splice site |
probably benign |
|
|
R1256:Mcu
|
UTSW |
10 |
59,290,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Mcu
|
UTSW |
10 |
59,284,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2322:Mcu
|
UTSW |
10 |
59,290,766 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2404:Mcu
|
UTSW |
10 |
59,303,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Mcu
|
UTSW |
10 |
59,303,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Mcu
|
UTSW |
10 |
59,292,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Mcu
|
UTSW |
10 |
59,303,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5940:Mcu
|
UTSW |
10 |
59,292,554 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6949:Mcu
|
UTSW |
10 |
59,292,566 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8054:Mcu
|
UTSW |
10 |
59,290,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Mcu
|
UTSW |
10 |
59,303,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Mcu
|
UTSW |
10 |
59,303,535 (GRCm39) |
nonsense |
probably null |
|
|
R8893:Mcu
|
UTSW |
10 |
59,287,078 (GRCm39) |
missense |
probably benign |
0.41 |
|
RF007:Mcu
|
UTSW |
10 |
59,326,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mcu
|
UTSW |
10 |
59,292,593 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation