Incidental Mutation 'IGL02643:Micu1'
| ID |
301815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Micu1
|
| Ensembl Gene |
ENSMUSG00000020111 |
| Gene Name |
mitochondrial calcium uptake 1 |
| Synonyms |
C730016L05Rik, Cbara1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL02643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
59538385-59699956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59675558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 380
(D380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020311]
[ENSMUST00000092508]
[ENSMUST00000165563]
[ENSMUST00000179709]
|
| AlphaFold |
Q8VCX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020311
AA Change: D386G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020311
Gene: ENSMUSG00000020111
AA Change: D386G
| 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 |
possibly damaging
Transcript: ENSMUST00000092508
AA Change: D384G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090166
Gene: ENSMUSG00000020111
AA Change: D384G
| 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: D380G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126597
Gene: ENSMUSG00000020111
AA Change: D380G
| 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 |
noncoding transcript
Transcript: ENSMUST00000169842
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179709
AA Change: D380G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136567
Gene: ENSMUSG00000020111
AA Change: D380G
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
G |
5: 121,769,633 (GRCm39) |
M608L |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,679,527 (GRCm39) |
M836L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,619,061 (GRCm39) |
M1597K |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,533,089 (GRCm39) |
F1145L |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,152,614 (GRCm39) |
W32R |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,976,148 (GRCm39) |
E1722V |
possibly damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,595,086 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,284,258 (GRCm39) |
Y840N |
unknown |
Het |
| Dlg5 |
A |
G |
14: 24,241,250 (GRCm39) |
C132R |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,718,429 (GRCm39) |
N242K |
probably damaging |
Het |
| Dsg3 |
G |
A |
18: 20,662,012 (GRCm39) |
V426I |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,625,706 (GRCm39) |
|
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,842,997 (GRCm39) |
M357K |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,594,192 (GRCm39) |
S932P |
probably damaging |
Het |
| Gata4 |
T |
A |
14: 63,442,204 (GRCm39) |
D205V |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 188,990,976 (GRCm39) |
I195L |
possibly damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,479 (GRCm39) |
I427V |
probably benign |
Het |
| Mapk1ip1l |
T |
A |
14: 47,548,339 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Mknk2 |
A |
C |
10: 80,504,435 (GRCm39) |
L289R |
probably damaging |
Het |
| Mtcl2 |
A |
G |
2: 156,882,663 (GRCm39) |
V463A |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,668,998 (GRCm39) |
N286I |
possibly damaging |
Het |
| Or5ae2 |
A |
T |
7: 84,506,239 (GRCm39) |
I221F |
probably damaging |
Het |
| Pdp1 |
C |
T |
4: 11,962,062 (GRCm39) |
R83H |
probably benign |
Het |
| Ptafr |
A |
C |
4: 132,307,437 (GRCm39) |
I276L |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,197 (GRCm39) |
D968V |
possibly damaging |
Het |
| Rplp1rt |
T |
C |
19: 12,824,300 (GRCm39) |
|
noncoding transcript |
Het |
| Samd8 |
T |
A |
14: 21,843,212 (GRCm39) |
M447K |
probably damaging |
Het |
| Six5 |
G |
T |
7: 18,831,455 (GRCm39) |
V649L |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,570,225 (GRCm39) |
F168I |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,497 (GRCm39) |
V521M |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,353,577 (GRCm39) |
D206G |
possibly damaging |
Het |
| Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,685,009 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,393,372 (GRCm39) |
I71V |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,648,327 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ttpal |
A |
G |
2: 163,449,140 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
A |
T |
7: 139,576,067 (GRCm39) |
N865K |
probably damaging |
Het |
| Wdr45 |
G |
T |
X: 7,593,288 (GRCm39) |
E62* |
probably null |
Het |
| Zfp507 |
A |
G |
7: 35,494,656 (GRCm39) |
F129S |
probably damaging |
Het |
| Zfp518b |
T |
A |
5: 38,831,498 (GRCm39) |
H169L |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation