Incidental Mutation 'R3619:Micu1'
| ID |
268566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Micu1
|
| Ensembl Gene |
ENSMUSG00000020111 |
| Gene Name |
mitochondrial calcium uptake 1 |
| Synonyms |
C730016L05Rik, Cbara1 |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.775)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59538385-59699956 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 59604080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020311]
[ENSMUST00000020311]
[ENSMUST00000092508]
[ENSMUST00000165563]
[ENSMUST00000171409]
[ENSMUST00000179709]
|
| AlphaFold |
Q8VCX5 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
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 |
|
|
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 |
|
|
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'- GAATGGCCGTCCTAGAAGTG -3'
(R):5'- TCCTTTCAAGAGAGTTTACACCC -3'
Sequencing Primer
(F):5'- AACTGGGATAAATGTCGTCCGTTC -3'
(R):5'- GAGAGTTTACACCCAAATTACAGAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation