Incidental Mutation 'R5431:Micu1'
ID |
428058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Micu1
|
Ensembl Gene |
ENSMUSG00000020111 |
Gene Name |
mitochondrial calcium uptake 1 |
Synonyms |
C730016L05Rik, Cbara1 |
MMRRC Submission |
042847-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.702)
|
Stock # |
R5431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
59538385-59699956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59586343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 140
(Y140H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020311]
[ENSMUST00000092508]
[ENSMUST00000165563]
[ENSMUST00000167612]
[ENSMUST00000171409]
[ENSMUST00000179709]
|
AlphaFold |
Q8VCX5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020311
AA Change: Y173H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020311 Gene: ENSMUSG00000020111 AA Change: Y173H
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: Y173H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090166 Gene: ENSMUSG00000020111 AA Change: Y173H
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 |
noncoding transcript
Transcript: ENSMUST00000165405
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165563
AA Change: Y173H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126597 Gene: ENSMUSG00000020111 AA Change: Y173H
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 |
unknown
Transcript: ENSMUST00000167612
AA Change: Y23H
|
SMART Domains |
Protein: ENSMUSP00000126822 Gene: ENSMUSG00000020111 AA Change: Y23H
Domain | Start | End | E-Value | Type |
PDB:4NSD|B
|
1 |
35 |
2e-16 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171409
AA Change: Y140H
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131000 Gene: ENSMUSG00000020111 AA Change: Y140H
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 |
possibly damaging
Transcript: ENSMUST00000179709
AA Change: Y173H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136567 Gene: ENSMUSG00000020111 AA Change: Y173H
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,426 (GRCm39) |
S124G |
possibly damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,128,045 (GRCm39) |
T27A |
probably benign |
Het |
Aspg |
T |
A |
12: 112,089,846 (GRCm39) |
N461K |
probably benign |
Het |
B4galnt3 |
T |
A |
6: 120,195,928 (GRCm39) |
T300S |
probably damaging |
Het |
BC035044 |
A |
G |
6: 128,861,970 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
C |
T |
9: 75,800,991 (GRCm39) |
P374S |
probably damaging |
Het |
C330018D20Rik |
A |
T |
18: 57,090,928 (GRCm39) |
F78L |
probably benign |
Het |
Cds2 |
T |
A |
2: 132,144,090 (GRCm39) |
S289T |
probably benign |
Het |
Cerkl |
C |
T |
2: 79,171,679 (GRCm39) |
C393Y |
probably damaging |
Het |
Cibar2 |
C |
A |
8: 120,894,042 (GRCm39) |
|
probably null |
Het |
Ciita |
C |
T |
16: 10,341,656 (GRCm39) |
R1020C |
probably damaging |
Het |
Dcaf13 |
C |
A |
15: 38,986,619 (GRCm39) |
D130E |
probably benign |
Het |
Dnal4 |
C |
T |
15: 79,646,648 (GRCm39) |
G50R |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,957,323 (GRCm39) |
N109S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,824,420 (GRCm39) |
V2435A |
unknown |
Het |
Fam178b |
T |
C |
1: 36,671,566 (GRCm39) |
E185G |
probably damaging |
Het |
Fam227b |
C |
A |
2: 125,968,851 (GRCm39) |
L74F |
probably benign |
Het |
Fgfr4 |
G |
A |
13: 55,304,464 (GRCm39) |
V138I |
probably benign |
Het |
Flnc |
A |
G |
6: 29,456,383 (GRCm39) |
I2161V |
possibly damaging |
Het |
Frmd5 |
T |
C |
2: 121,393,390 (GRCm39) |
N235S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ggt6 |
A |
G |
11: 72,328,564 (GRCm39) |
T355A |
possibly damaging |
Het |
Gm14393 |
G |
A |
2: 174,905,669 (GRCm39) |
T41I |
probably damaging |
Het |
Gpr151 |
A |
C |
18: 42,711,932 (GRCm39) |
S249A |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,746 (GRCm39) |
V429D |
probably benign |
Het |
Grm7 |
G |
A |
6: 111,335,387 (GRCm39) |
M599I |
probably benign |
Het |
Hdac4 |
T |
A |
1: 91,900,512 (GRCm39) |
R54* |
probably null |
Het |
Ice1 |
A |
G |
13: 70,740,769 (GRCm39) |
L2146S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm39) |
V183I |
probably benign |
Het |
Kel |
G |
A |
6: 41,675,354 (GRCm39) |
S299F |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,433 (GRCm39) |
I1016T |
possibly damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,130 (GRCm39) |
D395G |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nbn |
C |
T |
4: 15,986,593 (GRCm39) |
H665Y |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,188,060 (GRCm39) |
T3416K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,929,840 (GRCm39) |
F232S |
probably damaging |
Het |
Pus7l |
T |
C |
15: 94,427,367 (GRCm39) |
N472D |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,809,349 (GRCm39) |
Q225* |
probably null |
Het |
Rnase2a |
T |
C |
14: 51,493,020 (GRCm39) |
Y115C |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,809,237 (GRCm39) |
D386V |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sgcz |
T |
A |
8: 38,107,138 (GRCm39) |
T125S |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,668,695 (GRCm39) |
S36G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,119 (GRCm39) |
L31P |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,820,412 (GRCm39) |
E142* |
probably null |
Het |
Tgfbr2 |
G |
T |
9: 115,960,669 (GRCm39) |
S94R |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,348,609 (GRCm39) |
I297N |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,684 (GRCm39) |
I293T |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,746,324 (GRCm39) |
D511G |
possibly 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 |
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'- TGTCTGTCTGCCAGCATTTG -3'
(R):5'- AACCCTGGCTTGATTTCCTG -3'
Sequencing Primer
(F):5'- GCCAGCATTTGTACTTTAAGTCTG -3'
(R):5'- CCTGGCTTGATTTCCTGTGCAG -3'
|
Posted On |
2016-09-01 |