Incidental Mutation 'R0988:Micu1'
| ID |
97399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micu1
|
| Ensembl Gene |
ENSMUSG00000020111 |
| Gene Name |
mitochondrial calcium uptake 1 |
| Synonyms |
C730016L05Rik, Cbara1 |
| MMRRC Submission |
039108-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R0988 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
59538385-59699956 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 59592549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020311]
[ENSMUST00000092508]
[ENSMUST00000165563]
[ENSMUST00000167612]
[ENSMUST00000171409]
[ENSMUST00000179709]
|
| AlphaFold |
Q8VCX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020311
|
| SMART Domains |
Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
| 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
|
| SMART Domains |
Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
| 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 |
probably benign
Transcript: ENSMUST00000165563
|
| SMART Domains |
Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
| 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 |
silent
Transcript: ENSMUST00000167612
|
| SMART Domains |
Protein: ENSMUSP00000126822
Gene: ENSMUSG00000020111
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4NSD|B
|
1 |
35 |
2e-16 |
PDB |
|
| 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 |
probably benign
Transcript: ENSMUST00000179709
|
| SMART Domains |
Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
97% (34/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
| Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
| Cop1 |
T |
C |
1: 159,060,417 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cop1 |
A |
G |
1: 159,072,242 (GRCm39) |
Y186C |
probably damaging |
Het |
| Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,231,109 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
| Napg |
T |
C |
18: 63,116,431 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
| Ntpcr |
T |
C |
8: 126,464,170 (GRCm39) |
|
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
| Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
| Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
| Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
| Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
| Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,401 (GRCm39) |
C286S |
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 |
|
R1121:Micu1
|
UTSW |
10 |
59,624,804 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- GGGGACGACGTGGAATCTTTACAAC -3'
(R):5'- ACATTCTCAAGGACCGTGCAGTG -3'
Sequencing Primer
(F):5'- CCTAACGGGTGATGGCTAGAAC -3'
(R):5'- ACCGTGCAGTGTTTGAATTGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation