Incidental Mutation 'R2322:Mcu'
| ID |
244783 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59282806-59452514 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 59290766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009791]
[ENSMUST00000009791]
[ENSMUST00000020312]
[ENSMUST00000020312]
|
| AlphaFold |
Q3UMR5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009791
|
| SMART Domains |
Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF607
|
1 |
171 |
3.7e-61 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000009791
|
| SMART Domains |
Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF607
|
1 |
171 |
3.7e-61 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020312
|
| SMART Domains |
Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020312
|
| SMART Domains |
Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,042,147 (GRCm39) |
Y174C |
unknown |
Het |
| Bod1l |
A |
T |
5: 41,984,463 (GRCm39) |
V529E |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,577,492 (GRCm39) |
T176A |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,732 (GRCm39) |
M214T |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,467,922 (GRCm39) |
I272L |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,514 (GRCm39) |
K301E |
probably damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,802 (GRCm39) |
L260H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,274 (GRCm39) |
Y275C |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,007,847 (GRCm39) |
S96P |
probably damaging |
Het |
| Hykk |
G |
A |
9: 54,853,418 (GRCm39) |
G247S |
probably benign |
Het |
| Ky |
T |
C |
9: 102,414,990 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
T |
G |
11: 49,231,476 (GRCm39) |
L39R |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,118 (GRCm39) |
C104R |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,008,878 (GRCm39) |
R667Q |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,301,473 (GRCm39) |
T220A |
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,348 (GRCm39) |
C766* |
probably null |
Het |
| St8sia4 |
C |
T |
1: 95,581,463 (GRCm39) |
R93H |
probably damaging |
Het |
| Tcim |
G |
C |
8: 24,928,726 (GRCm39) |
R63G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,813 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zhx3 |
T |
C |
2: 160,623,948 (GRCm39) |
D73G |
probably damaging |
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 |
|
IGL03074:Mcu
|
APN |
10 |
59,303,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTACCGCAATCTCAATTCTGG -3'
(R):5'- TTGTCCACGTGTGCCCAATAG -3'
Sequencing Primer
(F):5'- CTCAATTCTGGAAGCAACTCTG -3'
(R):5'- GTGCCCAATAGGTACGAATTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation