Incidental Mutation 'R4509:Mipep'
ID |
331138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mipep
|
Ensembl Gene |
ENSMUSG00000021993 |
Gene Name |
mitochondrial intermediate peptidase |
Synonyms |
5730405E07Rik |
MMRRC Submission |
041758-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R4509 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
61022022-61142927 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61064770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 375
(Y375H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225506]
|
AlphaFold |
A6H611 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063562
AA Change: Y375H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069840 Gene: ENSMUSG00000021993 AA Change: Y375H
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: Y375H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225506
AA Change: Y375H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.6657 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,468,521 (GRCm39) |
C33* |
probably null |
Het |
Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,364,964 (GRCm39) |
D221V |
probably damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
Perm1 |
T |
C |
4: 156,302,043 (GRCm39) |
S196P |
probably benign |
Het |
Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,501,823 (GRCm39) |
V45A |
possibly damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
Socs1 |
C |
T |
16: 10,602,218 (GRCm39) |
R173Q |
probably benign |
Het |
Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
probably benign |
Het |
Zfp560 |
C |
T |
9: 20,260,019 (GRCm39) |
C281Y |
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 |
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 |
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'- TCTGCTACCGTTGATTGAATTG -3'
(R):5'- CCCTGTCAGAATGCAGTTAGC -3'
Sequencing Primer
(F):5'- CTACCGTTGATTGAATTGTTGGG -3'
(R):5'- ACTGACACTGCCACATGG -3'
|
Posted On |
2015-07-21 |