Incidental Mutation 'IGL00476:Mipep'
| ID |
4177 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mipep
|
| Ensembl Gene |
ENSMUSG00000021993 |
| Gene Name |
mitochondrial intermediate peptidase |
| Synonyms |
5730405E07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61022022-61142927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 61064810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 388
(L388R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225506]
|
| AlphaFold |
A6H611 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063562
AA Change: L388R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: L388R
| 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: ENSMUST00000223709
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224635
AA Change: L388R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225506
AA Change: L388R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
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 |
|
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 |
|
R2285:Mipep
|
UTSW |
14 |
61,024,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation