Incidental Mutation 'R1833:Mipep'
ID 204988
Institutional Source Beutler Lab
Gene Symbol Mipep
Ensembl Gene ENSMUSG00000021993
Gene Name mitochondrial intermediate peptidase
Synonyms 5730405E07Rik
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 61022022-61142927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 61109512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 630 (Y630D)
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: Y630D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: Y630D

DomainStartEndE-ValueType
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: Y630D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225506
Meta Mutation Damage Score 0.8846 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P possibly 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
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'- CGCAATTTAGTGAGCCCAC -3'
(R):5'- CAACTGCCATTGGATGCTGAG -3'

Sequencing Primer
(F):5'- CGGTAGTCTACACATATGACAATGG -3'
(R):5'- ATGTCTGAGTGAGTGTGCATATATG -3'
Posted On 2014-06-23