Incidental Mutation 'R1085:Mcur1'
| ID |
84990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcur1
|
| Ensembl Gene |
ENSMUSG00000021371 |
| Gene Name |
mitochondrial calcium uniporter regulator 1 |
| Synonyms |
Ccdc90a, 6230416A05Rik |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
43691869-43713667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43708480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 124
(S124P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021800]
|
| AlphaFold |
Q9CXD6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021800
AA Change: S124P
|
| SMART Domains |
Protein: ENSMUSP00000021800
Gene: ENSMUSG00000021371
AA Change: S124P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
125 |
N/A |
INTRINSIC |
|
Pfam:DUF1640
|
147 |
339 |
3.7e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223353
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, reduced body size and impaired mitochondrial calcium uptake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Mcur1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02428:Mcur1
|
APN |
13 |
43,695,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Mcur1
|
UTSW |
13 |
43,699,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:Mcur1
|
UTSW |
13 |
43,699,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Mcur1
|
UTSW |
13 |
43,713,491 (GRCm39) |
missense |
unknown |
|
|
R2418:Mcur1
|
UTSW |
13 |
43,703,013 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2419:Mcur1
|
UTSW |
13 |
43,703,013 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2508:Mcur1
|
UTSW |
13 |
43,697,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Mcur1
|
UTSW |
13 |
43,698,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Mcur1
|
UTSW |
13 |
43,705,147 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6542:Mcur1
|
UTSW |
13 |
43,705,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Mcur1
|
UTSW |
13 |
43,697,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7177:Mcur1
|
UTSW |
13 |
43,698,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7589:Mcur1
|
UTSW |
13 |
43,705,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Mcur1
|
UTSW |
13 |
43,697,959 (GRCm39) |
nonsense |
probably null |
|
|
R7859:Mcur1
|
UTSW |
13 |
43,713,485 (GRCm39) |
nonsense |
probably null |
|
|
R8686:Mcur1
|
UTSW |
13 |
43,695,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9572:Mcur1
|
UTSW |
13 |
43,713,433 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCACTGATCCAAGGTCGGGG -3'
(R):5'- AGGACTGTCATCACTGGGTTTGAGG -3'
Sequencing Primer
(F):5'- TCCAAGGTCGGGGGAGTG -3'
(R):5'- AGACCCTGTTTGACACATATGGC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation