Incidental Mutation 'R2285:Mipep'
ID |
243285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mipep
|
Ensembl Gene |
ENSMUSG00000021993 |
Gene Name |
mitochondrial intermediate peptidase |
Synonyms |
5730405E07Rik |
MMRRC Submission |
040284-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R2285 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
61022022-61142927 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61024843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 95
(S95P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225043]
[ENSMUST00000225506]
|
AlphaFold |
A6H611 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063562
AA Change: S95P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000069840 Gene: ENSMUSG00000021993 AA Change: S95P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
Pfam:Peptidase_M3
|
252 |
697 |
5.4e-145 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223709
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224635
AA Change: S95P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225043
AA Change: S95P
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225506
AA Change: S95P
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
Cibar2 |
T |
C |
8: 120,895,276 (GRCm39) |
N209D |
probably benign |
Het |
Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
Cnpy4 |
A |
G |
5: 138,191,087 (GRCm39) |
|
probably null |
Het |
Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
Cpa5 |
G |
T |
6: 30,615,063 (GRCm39) |
V67L |
probably benign |
Het |
Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
Ints9 |
T |
C |
14: 65,245,446 (GRCm39) |
F235L |
possibly damaging |
Het |
Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nxpe3 |
C |
T |
16: 55,686,588 (GRCm39) |
G140D |
probably damaging |
Het |
Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
Het |
Zfp51 |
T |
A |
17: 21,684,137 (GRCm39) |
F251I |
probably damaging |
Het |
|
Other mutations in Mipep |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00468:Mipep
|
APN |
14 |
61,112,709 (GRCm39) |
missense |
probably benign |
0.43 |
IGL00476:Mipep
|
APN |
14 |
61,064,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01319:Mipep
|
APN |
14 |
61,080,720 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01608:Mipep
|
APN |
14 |
61,039,679 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01621:Mipep
|
APN |
14 |
61,033,614 (GRCm39) |
splice site |
probably benign |
|
PIT4585001:Mipep
|
UTSW |
14 |
61,022,284 (GRCm39) |
missense |
probably benign |
0.01 |
R0635:Mipep
|
UTSW |
14 |
61,066,839 (GRCm39) |
missense |
probably damaging |
0.97 |
R1180:Mipep
|
UTSW |
14 |
61,071,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R1463:Mipep
|
UTSW |
14 |
61,025,595 (GRCm39) |
splice site |
probably benign |
|
R1831:Mipep
|
UTSW |
14 |
61,109,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R1833:Mipep
|
UTSW |
14 |
61,109,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R1852:Mipep
|
UTSW |
14 |
61,080,689 (GRCm39) |
nonsense |
probably null |
|
R2115:Mipep
|
UTSW |
14 |
61,024,829 (GRCm39) |
missense |
probably damaging |
0.96 |
R3890:Mipep
|
UTSW |
14 |
61,046,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R3892:Mipep
|
UTSW |
14 |
61,046,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R4078:Mipep
|
UTSW |
14 |
61,083,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Mipep
|
UTSW |
14 |
61,064,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Mipep
|
UTSW |
14 |
61,140,865 (GRCm39) |
missense |
probably damaging |
0.97 |
R4707:Mipep
|
UTSW |
14 |
61,109,552 (GRCm39) |
missense |
probably damaging |
0.98 |
R4804:Mipep
|
UTSW |
14 |
61,040,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4870:Mipep
|
UTSW |
14 |
61,040,329 (GRCm39) |
nonsense |
probably null |
|
R4964:Mipep
|
UTSW |
14 |
61,022,231 (GRCm39) |
missense |
probably damaging |
0.97 |
R4966:Mipep
|
UTSW |
14 |
61,022,231 (GRCm39) |
missense |
probably damaging |
0.97 |
R4984:Mipep
|
UTSW |
14 |
61,025,631 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5074:Mipep
|
UTSW |
14 |
61,046,462 (GRCm39) |
missense |
probably benign |
0.02 |
R5090:Mipep
|
UTSW |
14 |
61,039,748 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5131:Mipep
|
UTSW |
14 |
61,140,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R5569:Mipep
|
UTSW |
14 |
61,040,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R6162:Mipep
|
UTSW |
14 |
61,024,853 (GRCm39) |
missense |
probably damaging |
0.99 |
R6195:Mipep
|
UTSW |
14 |
61,109,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R6233:Mipep
|
UTSW |
14 |
61,109,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R6680:Mipep
|
UTSW |
14 |
61,025,672 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7120:Mipep
|
UTSW |
14 |
61,112,696 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7470:Mipep
|
UTSW |
14 |
61,040,344 (GRCm39) |
missense |
probably benign |
0.31 |
R7826:Mipep
|
UTSW |
14 |
61,039,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R7869:Mipep
|
UTSW |
14 |
61,040,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R8862:Mipep
|
UTSW |
14 |
61,080,689 (GRCm39) |
nonsense |
probably null |
|
R8890:Mipep
|
UTSW |
14 |
61,109,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8983:Mipep
|
UTSW |
14 |
61,080,702 (GRCm39) |
missense |
probably benign |
0.00 |
R9020:Mipep
|
UTSW |
14 |
61,068,677 (GRCm39) |
nonsense |
probably null |
|
R9226:Mipep
|
UTSW |
14 |
61,068,692 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9250:Mipep
|
UTSW |
14 |
61,028,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R9659:Mipep
|
UTSW |
14 |
61,083,893 (GRCm39) |
missense |
probably damaging |
0.98 |
R9732:Mipep
|
UTSW |
14 |
61,033,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Mipep
|
UTSW |
14 |
61,083,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCTTTGCACAAAAGTAGTTC -3'
(R):5'- CACACACGGCATGCATGTTC -3'
Sequencing Primer
(F):5'- GCTTTGCACAAAAGTAGTTCTAGGG -3'
(R):5'- GGCATGCATGTTCCTGCAC -3'
|
Posted On |
2014-10-16 |