Incidental Mutation 'R1180:Mipep'
ID 101512
Institutional Source Beutler Lab
Gene Symbol Mipep
Ensembl Gene ENSMUSG00000021993
Gene Name mitochondrial intermediate peptidase
Synonyms 5730405E07Rik
MMRRC Submission 039252-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1180 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 61022022-61142927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61071505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 537 (V537I)
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: V537I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: V537I

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: V537I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000225506
AA Change: V537I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.5823 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.5%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,141 (GRCm39) D281E probably benign Het
Adam24 T G 8: 41,134,467 (GRCm39) V645G probably damaging Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Cadps A G 14: 12,457,836 (GRCm38) probably benign Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Chd8 A C 14: 52,458,565 (GRCm39) S848A probably damaging Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cpd T C 11: 76,692,579 (GRCm39) T753A possibly damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Dock4 A G 12: 40,690,413 (GRCm39) E173G possibly damaging Het
EU599041 G A 7: 42,875,731 (GRCm39) noncoding transcript Het
Fer1l6 G A 15: 58,474,160 (GRCm39) probably benign Het
Flt3 T C 5: 147,278,048 (GRCm39) D842G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Fsip2 T C 2: 82,805,570 (GRCm39) Y630H probably damaging Het
Gprin3 C A 6: 59,331,921 (GRCm39) V129F possibly damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hoxa3 A C 6: 52,147,382 (GRCm39) Y290* probably null Het
Htra4 G T 8: 25,523,735 (GRCm39) L277I probably damaging Het
Jak2 A G 19: 29,259,899 (GRCm39) Y266C probably damaging Het
Kif6 T A 17: 50,139,284 (GRCm39) probably benign Het
Kiz C T 2: 146,811,927 (GRCm39) R679C unknown Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mrpl44 T A 1: 79,755,677 (GRCm39) N94K probably damaging Het
Mstn A T 1: 53,103,167 (GRCm39) T168S possibly damaging Het
Mx2 G A 16: 97,357,209 (GRCm39) R434H probably damaging Het
Myh6 A G 14: 55,181,925 (GRCm39) I1792T possibly damaging Het
Myo16 T C 8: 10,446,908 (GRCm39) S450P probably damaging Het
Nherf4 T A 9: 44,160,543 (GRCm39) D284V probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Psmd8 A T 7: 28,874,825 (GRCm39) V248E probably benign Het
Ranbp2 A G 10: 58,301,285 (GRCm39) Y646C probably damaging Het
Samsn1 C T 16: 75,670,536 (GRCm39) G189E probably damaging Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Sfmbt2 C T 2: 10,406,877 (GRCm39) H59Y probably damaging Het
Shb T C 4: 45,423,996 (GRCm39) I486V possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Spag16 G A 1: 69,962,817 (GRCm39) probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tk1 A G 11: 117,712,921 (GRCm39) probably null Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ube2q2 T C 9: 55,102,700 (GRCm39) probably benign Het
Utp14b C A 1: 78,643,162 (GRCm39) N353K probably damaging Het
Zfp474 C T 18: 52,771,814 (GRCm39) Q156* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TTTCATGTCAAGCAAGCATAGCAAAGG -3'
(R):5'- AAGACCCAACTCTTCATGGGAATTCAC -3'

Sequencing Primer
(F):5'- AGAGGGTGTGAGCCATTGC -3'
(R):5'- GGGAATTCACTCTTTCACAGAC -3'
Posted On 2014-01-15