Incidental Mutation 'IGL01621:Mipep'
ID 92620
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) question?
Stock # IGL01621
Quality Score
Status
Chromosome 14
Chromosomal Location 61022022-61142927 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 61033614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225043] [ENSMUST00000225506]
AlphaFold A6H611
Predicted Effect probably benign
Transcript: ENSMUST00000063562
SMART Domains Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000224635
Predicted Effect probably benign
Transcript: ENSMUST00000225043
Predicted Effect probably benign
Transcript: ENSMUST00000225506
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Mipep
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-12-09