Incidental Mutation 'R4619:Mipep'
ID345198
Institutional Source Beutler Lab
Gene Symbol Mipep
Ensembl Gene ENSMUSG00000021993
Gene Namemitochondrial intermediate peptidase
Synonyms5730405E07Rik
MMRRC Submission 041885-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #R4619 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location60784573-60905478 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60903416 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 566 (C566R)
Ref Sequence ENSEMBL: ENSMUSP00000153374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225506]
Predicted Effect probably benign
Transcript: ENSMUST00000063562
AA Change: V696A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: V696A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Peptidase_M3 252 697 5.4e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224635
AA Change: V696A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably damaging
Transcript: ENSMUST00000225506
AA Change: C566R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.146 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (74/74)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 138,069,759 V1570I probably damaging Het
Alx4 A G 2: 93,642,761 R35G probably damaging Het
Apod T C 16: 31,297,393 D173G probably benign Het
Atp8b3 G A 10: 80,526,024 T731I possibly damaging Het
Birc6 A C 17: 74,640,150 T2955P probably benign Het
Cdh15 G A 8: 122,860,873 D179N probably damaging Het
Cntnap5c G T 17: 58,410,268 V1282L probably benign Het
Crocc2 G A 1: 93,213,650 R1175H probably benign Het
Dbh A G 2: 27,174,824 D349G probably damaging Het
Dync1h1 A G 12: 110,638,844 I2372V probably benign Het
Fam196a A G 7: 134,918,541 Y87H probably damaging Het
Fer1l4 A T 2: 156,047,087 W389R probably damaging Het
Fndc1 T C 17: 7,765,204 T1297A unknown Het
Gart T C 16: 91,625,433 N732S probably damaging Het
Gas2l2 T C 11: 83,423,098 I463V probably benign Het
Gm5591 G A 7: 38,520,648 S267L probably benign Het
Gzmk A G 13: 113,173,123 V92A probably damaging Het
Hspg2 C T 4: 137,546,573 R2680W probably damaging Het
Kcnh3 G A 15: 99,234,101 V646M probably damaging Het
Kcnk7 A C 19: 5,706,435 I230L probably benign Het
Kif3b C T 2: 153,316,674 R132* probably null Het
Klra5 T C 6: 129,908,813 S128G probably benign Het
Krba1 C T 6: 48,406,348 R4* probably null Het
Krt2 T A 15: 101,817,591 I171F probably damaging Het
Lss A G 10: 76,536,255 D148G probably benign Het
Mavs G T 2: 131,240,450 A85S probably damaging Het
Myocd T A 11: 65,178,428 probably benign Het
Ndufa9 C T 6: 126,827,535 probably null Het
Nolc1 G A 19: 46,083,520 G583D probably damaging Het
Nucb2 T C 7: 116,527,824 probably null Het
Olfr1357 T C 10: 78,612,575 D22G probably benign Het
Olfr487 A T 7: 108,212,094 I145N possibly damaging Het
Olfr596 C T 7: 103,309,958 T79I probably benign Het
Pank4 C A 4: 154,976,619 D508E probably benign Het
Phb T A 11: 95,671,590 probably benign Het
Pign T A 1: 105,521,990 probably benign Het
Plec T C 15: 76,192,182 K349E probably benign Het
Ppp1r3c A T 19: 36,734,343 V9E possibly damaging Het
Rap1gap T A 4: 137,716,111 V130D probably damaging Het
Senp3 T A 11: 69,677,118 Y432F probably benign Het
Serpina3f T C 12: 104,217,290 I137T possibly damaging Het
Slc46a3 T A 5: 147,886,730 K101* probably null Het
Snph G A 2: 151,594,514 Q96* probably null Het
Sptb A T 12: 76,583,807 C2244* probably null Het
Srbd1 A T 17: 86,109,265 F488L probably benign Het
Ssc5d A T 7: 4,929,525 H396L probably damaging Het
Sulf1 A C 1: 12,786,652 R42S probably damaging Het
Taf1a T A 1: 183,400,598 probably benign Het
Thoc5 T A 11: 4,926,218 M609K probably damaging Het
Tiam2 A T 17: 3,518,342 I1588F probably damaging Het
Tmcc1 C T 6: 116,043,286 V402I probably damaging Het
Tmprss15 T C 16: 79,021,470 D524G probably damaging Het
Trbv31 T C 6: 41,557,967 I21V probably benign Het
Vmn1r74 A T 7: 11,847,471 T233S possibly damaging Het
Vmn1r74 G C 7: 11,847,476 Q234H probably damaging Het
Vsx1 A T 2: 150,688,609 S118T probably benign Het
Wnt9b G A 11: 103,731,123 T236I probably benign Het
Zbtb21 T C 16: 97,949,892 T1092A possibly damaging Het
Zc3hc1 G A 6: 30,387,524 T52I probably benign Het
Zfp558 T A 9: 18,456,281 N404Y possibly damaging Het
Zfp735 A T 11: 73,711,205 D325V probably damaging Het
Zhx3 A T 2: 160,781,959 M96K probably damaging Het
Other mutations in Mipep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Mipep APN 14 60875260 missense probably benign 0.43
IGL00476:Mipep APN 14 60827361 missense probably damaging 1.00
IGL01319:Mipep APN 14 60843271 missense probably benign 0.00
IGL01608:Mipep APN 14 60802230 missense possibly damaging 0.65
IGL01621:Mipep APN 14 60796165 splice site probably benign
R0635:Mipep UTSW 14 60829390 missense probably damaging 0.97
R1180:Mipep UTSW 14 60834056 missense probably damaging 1.00
R1463:Mipep UTSW 14 60788146 splice site probably benign
R1831:Mipep UTSW 14 60872063 missense probably damaging 1.00
R1833:Mipep UTSW 14 60872063 missense probably damaging 1.00
R1852:Mipep UTSW 14 60843240 nonsense probably null
R2115:Mipep UTSW 14 60787380 missense probably damaging 0.96
R2285:Mipep UTSW 14 60787394 missense possibly damaging 0.94
R3890:Mipep UTSW 14 60808995 missense probably damaging 1.00
R3892:Mipep UTSW 14 60808995 missense probably damaging 1.00
R4078:Mipep UTSW 14 60846477 missense probably damaging 1.00
R4509:Mipep UTSW 14 60827321 missense probably damaging 1.00
R4707:Mipep UTSW 14 60872103 missense probably damaging 0.98
R4804:Mipep UTSW 14 60802952 missense probably damaging 1.00
R4870:Mipep UTSW 14 60802880 nonsense probably null
R4964:Mipep UTSW 14 60784782 missense probably damaging 0.97
R4966:Mipep UTSW 14 60784782 missense probably damaging 0.97
R4984:Mipep UTSW 14 60788182 missense possibly damaging 0.87
R5074:Mipep UTSW 14 60809013 missense probably benign 0.02
R5090:Mipep UTSW 14 60802299 missense possibly damaging 0.92
R5131:Mipep UTSW 14 60903374 missense probably damaging 1.00
R5569:Mipep UTSW 14 60802934 missense probably damaging 1.00
R6162:Mipep UTSW 14 60787404 missense probably damaging 0.99
R6195:Mipep UTSW 14 60872105 missense probably damaging 1.00
R6233:Mipep UTSW 14 60872105 missense probably damaging 1.00
R6680:Mipep UTSW 14 60788223 missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- AAAGTCACGAACAGCTCAGGTC -3'
(R):5'- TGAGTCCTGTCAATTTAAGGCTTG -3'

Sequencing Primer
(F):5'- GAACAGCTCAGGTCATGGACTC -3'
(R):5'- GGCTTGTCAGAAAATGTCTCCTCAG -3'
Posted On2015-09-25