Incidental Mutation 'R9250:Mipep'
| ID |
701510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mipep
|
| Ensembl Gene |
ENSMUSG00000021993 |
| Gene Name |
mitochondrial intermediate peptidase |
| Synonyms |
5730405E07Rik |
| MMRRC Submission |
068989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R9250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
61022022-61142927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61028358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 157
(Y157H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225043]
[ENSMUST00000225506]
|
| AlphaFold |
A6H611 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063562
AA Change: Y157H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: Y157H
| 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: Y157H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225043
AA Change: Y157H
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225506
AA Change: Y157H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
G |
3: 137,772,389 (GRCm39) |
A526G |
probably damaging |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,442,011 (GRCm39) |
I80K |
probably benign |
Het |
| Ablim3 |
A |
G |
18: 61,944,501 (GRCm39) |
L526P |
probably damaging |
Het |
| Aknad1 |
T |
C |
3: 108,664,143 (GRCm39) |
S369P |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,258,259 (GRCm39) |
S119P |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,054,788 (GRCm39) |
I1110T |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,398 (GRCm39) |
S419P |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Crim1 |
C |
T |
17: 78,677,471 (GRCm39) |
H891Y |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,638,919 (GRCm39) |
E269G |
probably benign |
Het |
| Ddt |
T |
C |
10: 75,609,063 (GRCm39) |
D32G |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,240,543 (GRCm39) |
D236G |
probably benign |
Het |
| Edem1 |
C |
A |
6: 108,805,850 (GRCm39) |
D50E |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,256,915 (GRCm39) |
N490K |
probably damaging |
Het |
| Fam117a |
C |
A |
11: 95,228,071 (GRCm39) |
D60E |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,330 (GRCm39) |
S305P |
unknown |
Het |
| Fbxw21 |
A |
G |
9: 108,972,846 (GRCm39) |
F363L |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,167,422 (GRCm39) |
C224R |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,409,543 (GRCm39) |
N211K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Igkv3-5 |
T |
C |
6: 70,640,758 (GRCm39) |
S80P |
probably benign |
Het |
| Igkv4-90 |
C |
A |
6: 68,784,331 (GRCm39) |
G62* |
probably null |
Het |
| Il31ra |
A |
T |
13: 112,669,508 (GRCm39) |
Y386N |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,928,909 (GRCm39) |
H1159N |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,759,683 (GRCm39) |
S722F |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,461,169 (GRCm39) |
E293G |
probably damaging |
Het |
| Mmp7 |
A |
T |
9: 7,697,885 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,013,325 (GRCm39) |
L84P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,168,913 (GRCm39) |
V1874A |
possibly damaging |
Het |
| Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,465,151 (GRCm39) |
M80T |
probably damaging |
Het |
| Nubp2 |
A |
G |
17: 25,103,373 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
C |
T |
7: 107,655,014 (GRCm39) |
T275M |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,278 (GRCm39) |
I41T |
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,718 (GRCm39) |
C240* |
probably null |
Het |
| Ovch2 |
C |
A |
7: 107,392,542 (GRCm39) |
R267L |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,447,687 (GRCm39) |
E741G |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,289 (GRCm39) |
T324S |
probably benign |
Het |
| Pxk |
T |
A |
14: 8,144,123 (GRCm38) |
H290Q |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,237,219 (GRCm39) |
T5N |
unknown |
Het |
| Rp9 |
G |
A |
9: 22,365,086 (GRCm39) |
Q124* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
A |
G |
17: 45,125,459 (GRCm39) |
L19P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,424,764 (GRCm39) |
P473L |
unknown |
Het |
| Slc9a2 |
C |
T |
1: 40,806,987 (GRCm39) |
T758I |
probably benign |
Het |
| Spef1l |
C |
A |
7: 139,556,395 (GRCm39) |
K197N |
probably benign |
Het |
| Tas2r105 |
T |
G |
6: 131,663,951 (GRCm39) |
H159P |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,633,954 (GRCm39) |
M12K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,667,320 (GRCm39) |
Y614C |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,764,941 (GRCm39) |
Y691C |
probably damaging |
Het |
| Unc93a |
A |
G |
17: 13,334,488 (GRCm39) |
V337A |
probably benign |
Het |
| Usp17le |
T |
G |
7: 104,418,839 (GRCm39) |
Q101P |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,449,793 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,092 (GRCm39) |
S950G |
possibly damaging |
Het |
| Zfp644 |
T |
G |
5: 106,784,699 (GRCm39) |
D616A |
probably damaging |
Het |
| Zfp759 |
T |
G |
13: 67,288,461 (GRCm39) |
C671G |
probably damaging |
Het |
| Zgrf1 |
G |
T |
3: 127,379,797 (GRCm39) |
C1111F |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,732 (GRCm39) |
S349T |
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 |
|
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 |
|
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'- CTCACAGTTTAATGCTGGATGACC -3'
(R):5'- CTCCAAGAAAGTGCAGGAGC -3'
Sequencing Primer
(F):5'- CCTGCCTGAACGGTTTCTAAGTATG -3'
(R):5'- TGCAGGAGCCACGGAATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation