Incidental Mutation 'R7826:Mipep'
| ID |
602210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mipep
|
| Ensembl Gene |
ENSMUSG00000021993 |
| Gene Name |
mitochondrial intermediate peptidase |
| Synonyms |
5730405E07Rik |
| MMRRC Submission |
045880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R7826 (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 61039580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 203
(A203E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225043]
[ENSMUST00000225506]
|
| AlphaFold |
A6H611 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063562
AA Change: A203E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: A203E
| 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 |
probably damaging
Transcript: ENSMUST00000224635
AA Change: A203E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225043
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225506
AA Change: A203E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.4228 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
A |
2: 25,468,477 (GRCm39) |
R478L |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,153 (GRCm39) |
T521A |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
A |
T |
17: 30,553,301 (GRCm39) |
I387N |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,123,958 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
T |
11: 29,453,563 (GRCm39) |
H1642L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,644 (GRCm39) |
V77I |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,670,550 (GRCm39) |
S63T |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,793,410 (GRCm39) |
P467L |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,367,958 (GRCm39) |
T2781M |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,485,344 (GRCm39) |
D86G |
possibly damaging |
Het |
| Echs1 |
T |
A |
7: 139,696,349 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
C |
T |
4: 136,663,498 (GRCm39) |
M483I |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,139,165 (GRCm39) |
V850G |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,392,561 (GRCm39) |
C114* |
probably null |
Het |
| Gm5160 |
C |
T |
18: 14,558,129 (GRCm39) |
R69C |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,841,209 (GRCm39) |
H38R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,319,197 (GRCm39) |
V230A |
probably benign |
Het |
| Lonp2 |
C |
T |
8: 87,435,641 (GRCm39) |
P626S |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,095 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
T |
C |
3: 100,489,455 (GRCm39) |
E508G |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,299,668 (GRCm39) |
C753S |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,139,467 (GRCm39) |
E568G |
probably benign |
Het |
| Naca |
T |
A |
10: 127,879,479 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
G |
A |
14: 14,860,846 (GRCm38) |
|
probably null |
Het |
| Nf2 |
T |
C |
11: 4,739,750 (GRCm39) |
T419A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 53,878,539 (GRCm39) |
T164A |
possibly damaging |
Het |
| Nudcd3 |
T |
A |
11: 6,100,581 (GRCm39) |
I124F |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,423 (GRCm39) |
*315Q |
probably null |
Het |
| Pappa2 |
A |
T |
1: 158,764,010 (GRCm39) |
C500* |
probably null |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,995 (GRCm39) |
S442T |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,105,752 (GRCm39) |
N105D |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,464,496 (GRCm39) |
T1344A |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,573,097 (GRCm39) |
I312V |
possibly damaging |
Het |
| Rsf1 |
A |
G |
7: 97,310,368 (GRCm39) |
|
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,903,851 (GRCm39) |
I150L |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,180,496 (GRCm39) |
S433P |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,644 (GRCm39) |
D209N |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,488,984 (GRCm39) |
G235R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,115 (GRCm39) |
M165T |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,337 (GRCm39) |
D775G |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,419,245 (GRCm39) |
D264G |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,710 (GRCm39) |
L218H |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,866,953 (GRCm39) |
I649T |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,006,939 (GRCm39) |
Y114H |
probably damaging |
Het |
| Triml1 |
A |
T |
8: 43,591,803 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,715,220 (GRCm39) |
|
probably benign |
Het |
| Utrn |
C |
T |
10: 12,277,050 (GRCm39) |
|
probably null |
Het |
| Uty |
T |
C |
Y: 1,137,716 (GRCm39) |
K887E |
possibly damaging |
Het |
| Zfand2b |
T |
C |
1: 75,145,502 (GRCm39) |
F3L |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,219,953 (GRCm39) |
Q243K |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,668 (GRCm39) |
F544L |
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 |
|
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 |
|
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 |
|
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'- CAGCCGACGTGTTGACTTAAC -3'
(R):5'- ACATATCCGTCAGTATTCAGATGGG -3'
Sequencing Primer
(F):5'- GCCGACGTGTTGACTTAACTTAATG -3'
(R):5'- GACTCCTACCAAGTCATCGGAGG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation