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) question?
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

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 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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