Incidental Mutation 'IGL01621:Mipep'
ID92620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mipep
Ensembl Gene ENSMUSG00000021993
Gene Namemitochondrial intermediate peptidase
Synonyms5730405E07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL01621
Quality Score
Status
Chromosome14
Chromosomal Location60784573-60905478 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 60796165 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225043] [ENSMUST00000225506]
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: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C probably damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S probably damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H 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
PIT4585001:Mipep UTSW 14 60784835 missense probably benign 0.01
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
R4619:Mipep UTSW 14 60903416 missense probably damaging 0.97
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
R7120:Mipep UTSW 14 60875247 missense possibly damaging 0.60
R7470:Mipep UTSW 14 60802895 missense probably benign 0.31
R7826:Mipep UTSW 14 60802131 missense probably damaging 1.00
R7869:Mipep UTSW 14 60802936 missense probably damaging 1.00
Posted On2013-12-09