Incidental Mutation 'R6162:Mipep'
| ID |
489934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mipep
|
| Ensembl Gene |
ENSMUSG00000021993 |
| Gene Name |
mitochondrial intermediate peptidase |
| Synonyms |
5730405E07Rik |
| MMRRC Submission |
044309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
61022022-61142927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61024853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 98
(P98Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225043]
[ENSMUST00000225506]
|
| AlphaFold |
A6H611 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063562
AA Change: P98Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: P98Q
| 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: P98Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225043
AA Change: P98Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225506
AA Change: P98Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,259,047 (GRCm39) |
C2924W |
probably damaging |
Het |
| Adh4 |
T |
A |
3: 138,121,250 (GRCm39) |
|
probably null |
Het |
| Aox3 |
A |
T |
1: 58,198,890 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ccnj |
A |
G |
19: 40,833,606 (GRCm39) |
Y221C |
probably damaging |
Het |
| Cct2 |
T |
A |
10: 116,894,091 (GRCm39) |
D221V |
probably damaging |
Het |
| Cd5 |
G |
A |
19: 10,703,244 (GRCm39) |
T138M |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,952,304 (GRCm39) |
M307K |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dhrs11 |
C |
T |
11: 84,719,605 (GRCm39) |
G40D |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,382 (GRCm39) |
S3823G |
probably benign |
Het |
| Dnai3 |
T |
A |
3: 145,750,617 (GRCm39) |
I821F |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,841,998 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,045,318 (GRCm39) |
D17G |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fam20a |
G |
T |
11: 109,573,696 (GRCm39) |
S229* |
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,202,147 (GRCm39) |
D1242G |
probably damaging |
Het |
| Ggt5 |
T |
A |
10: 75,425,626 (GRCm39) |
V28D |
possibly damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,655 (GRCm39) |
I137F |
probably damaging |
Het |
| Git2 |
T |
A |
5: 114,899,717 (GRCm39) |
H212L |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,008 (GRCm39) |
I739F |
probably benign |
Het |
| Il1rl2 |
A |
G |
1: 40,391,038 (GRCm39) |
Y327C |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,831,368 (GRCm39) |
I205V |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,707 (GRCm39) |
D436G |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,881,784 (GRCm39) |
E756V |
possibly damaging |
Het |
| Myorg |
A |
G |
4: 41,497,899 (GRCm39) |
V577A |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,352,207 (GRCm39) |
V2035I |
probably benign |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,713 (GRCm39) |
I46F |
probably damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,227 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c118 |
G |
T |
2: 88,975,114 (GRCm39) |
F84L |
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,605,789 (GRCm39) |
T395A |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,375 (GRCm39) |
I177K |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,049,317 (GRCm39) |
T224A |
probably benign |
Het |
| Reln |
T |
A |
5: 22,116,048 (GRCm39) |
T2987S |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,351,621 (GRCm39) |
I787F |
probably damaging |
Het |
| Sgsm2 |
A |
T |
11: 74,782,847 (GRCm39) |
D36E |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,401 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,636,763 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trem2 |
A |
G |
17: 48,655,694 (GRCm39) |
I84V |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,430 (GRCm39) |
L594P |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,319,977 (GRCm39) |
|
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
|
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'- GCTTTGCACAAAAGTAGTTCTAGGG -3'
(R):5'- CCATGGCATGCATGTTCCTG -3'
Sequencing Primer
(F):5'- TAGTTCTAGGGAGTGAAACAGAC -3'
(R):5'- ACACGGCATGCATGTTCCTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation