Incidental Mutation 'R1121:Micu1'
| ID |
95651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micu1
|
| Ensembl Gene |
ENSMUSG00000020111 |
| Gene Name |
mitochondrial calcium uptake 1 |
| Synonyms |
C730016L05Rik, Cbara1 |
| MMRRC Submission |
039194-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.775)
|
| Stock # |
R1121 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59538385-59699956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59624804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 282
(T282I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020311]
[ENSMUST00000092508]
[ENSMUST00000165563]
[ENSMUST00000171409]
[ENSMUST00000179709]
|
| AlphaFold |
Q8VCX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020311
AA Change: T288I
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: T288I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
94 |
N/A |
INTRINSIC |
|
EFh
|
230 |
258 |
8.16e-1 |
SMART |
|
EFh
|
420 |
448 |
4.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092508
AA Change: T286I
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: T286I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
94 |
N/A |
INTRINSIC |
|
EFh
|
228 |
256 |
8.16e-1 |
SMART |
|
EFh
|
418 |
446 |
4.12e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165563
AA Change: T282I
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: T282I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
94 |
N/A |
INTRINSIC |
|
EFh
|
224 |
252 |
8.16e-1 |
SMART |
|
EFh
|
414 |
442 |
4.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171409
|
| SMART Domains |
Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
61 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_6
|
191 |
221 |
1.8e-6 |
PFAM |
|
Pfam:EF-hand_5
|
192 |
216 |
5.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172034
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179709
AA Change: T282I
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: T282I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
94 |
N/A |
INTRINSIC |
|
EFh
|
224 |
252 |
8.16e-1 |
SMART |
|
EFh
|
414 |
442 |
4.12e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
| Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
| Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
| G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
| Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
| Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
| Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
probably benign |
Het |
|
| Other mutations in Micu1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Micu1
|
APN |
10 |
59,699,100 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02643:Micu1
|
APN |
10 |
59,675,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:Micu1
|
APN |
10 |
59,563,870 (GRCm39) |
nonsense |
probably null |
|
|
R0025:Micu1
|
UTSW |
10 |
59,624,699 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0645:Micu1
|
UTSW |
10 |
59,675,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0988:Micu1
|
UTSW |
10 |
59,592,549 (GRCm39) |
intron |
probably benign |
|
|
R1334:Micu1
|
UTSW |
10 |
59,624,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Micu1
|
UTSW |
10 |
59,699,082 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1925:Micu1
|
UTSW |
10 |
59,568,983 (GRCm39) |
splice site |
probably benign |
|
|
R1976:Micu1
|
UTSW |
10 |
59,604,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Micu1
|
UTSW |
10 |
59,699,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Micu1
|
UTSW |
10 |
59,699,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2395:Micu1
|
UTSW |
10 |
59,699,024 (GRCm39) |
nonsense |
probably null |
|
|
R3619:Micu1
|
UTSW |
10 |
59,604,080 (GRCm39) |
splice site |
probably null |
|
|
R3953:Micu1
|
UTSW |
10 |
59,586,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4809:Micu1
|
UTSW |
10 |
59,576,644 (GRCm39) |
missense |
probably benign |
|
|
R4948:Micu1
|
UTSW |
10 |
59,699,076 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5103:Micu1
|
UTSW |
10 |
59,624,806 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5137:Micu1
|
UTSW |
10 |
59,663,054 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5431:Micu1
|
UTSW |
10 |
59,586,343 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5805:Micu1
|
UTSW |
10 |
59,663,128 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6910:Micu1
|
UTSW |
10 |
59,576,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Micu1
|
UTSW |
10 |
59,624,843 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7845:Micu1
|
UTSW |
10 |
59,675,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9124:Micu1
|
UTSW |
10 |
59,586,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Micu1
|
UTSW |
10 |
59,604,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Micu1
|
UTSW |
10 |
59,699,123 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Micu1
|
UTSW |
10 |
59,563,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCACTACTCAACTGTCAATGCC -3'
(R):5'- GCTCCTGGTTTACGGATCAACCAC -3'
Sequencing Primer
(F):5'- tcaactgtcaatgcctcctc -3'
(R):5'- AGACCCATTGGTTCTCACAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation