Incidental Mutation 'R6910:Micu1'
| ID |
538980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micu1
|
| Ensembl Gene |
ENSMUSG00000020111 |
| Gene Name |
mitochondrial calcium uptake 1 |
| Synonyms |
C730016L05Rik, Cbara1 |
| MMRRC Submission |
045002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.775)
|
| Stock # |
R6910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
59538385-59699956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59576489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 115
(E115G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020311]
[ENSMUST00000092508]
[ENSMUST00000165563]
[ENSMUST00000167612]
[ENSMUST00000171409]
[ENSMUST00000179709]
|
| AlphaFold |
Q8VCX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020311
AA Change: E115G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: E115G
| 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 damaging
Transcript: ENSMUST00000092508
AA Change: E115G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: E115G
| 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 damaging
Transcript: ENSMUST00000165563
AA Change: E115G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: E115G
| 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: ENSMUST00000167612
|
| SMART Domains |
Protein: ENSMUSP00000126822
Gene: ENSMUSG00000020111
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4NSD|B
|
1 |
35 |
2e-16 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171409
AA Change: E82G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131000
Gene: ENSMUSG00000020111
AA Change: E82G
| 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 damaging
Transcript: ENSMUST00000179709
AA Change: E115G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: E115G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
| Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
| Ift80 |
A |
C |
3: 68,835,068 (GRCm39) |
S458A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
| Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
| Mrpl39 |
A |
G |
16: 84,532,080 (GRCm39) |
V9A |
unknown |
Het |
| Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
| R3hcc1 |
G |
A |
14: 69,935,024 (GRCm39) |
P454L |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,570,447 (GRCm39) |
V151A |
probably damaging |
Het |
| Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,733 (GRCm39) |
D54G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,673,475 (GRCm39) |
F178L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
| Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
probably damaging |
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 |
|
|
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 |
|
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'- AGGGTGTGAATGATATCTTGCAAG -3'
(R):5'- AGCAGTTGAAGCCATGACAG -3'
Sequencing Primer
(F):5'- CTCCAACTAGAGAGAGATAATG -3'
(R):5'- GCAGTTGAAGCCATGACAGTTATCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation