Incidental Mutation 'IGL02396:Immp1l'
ID 294353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Immp1l
Ensembl Gene ENSMUSG00000042670
Gene Name IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Synonyms 1500034J20Rik, 2610528O17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # IGL02396
Quality Score
Status
Chromosome 2
Chromosomal Location 105735013-105795904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105767351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 70 (I70N)
Ref Sequence ENSEMBL: ENSMUSP00000049044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037499]
AlphaFold Q9CQU8
Predicted Effect probably damaging
Transcript: ENSMUST00000037499
AA Change: I70N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049044
Gene: ENSMUSG00000042670
AA Change: I70N

DomainStartEndE-ValueType
Pfam:Peptidase_S24 36 107 1.8e-16 PFAM
Pfam:Peptidase_S26 95 146 1e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,882,256 (GRCm39) probably benign Het
Bhmt1b A G 18: 87,774,780 (GRCm39) E101G possibly damaging Het
Bmp3 C A 5: 99,020,578 (GRCm39) Q334K possibly damaging Het
Bnc2 G T 4: 84,194,246 (GRCm39) S1026R probably benign Het
Bsn C T 9: 107,993,245 (GRCm39) G836S possibly damaging Het
Cand2 A G 6: 115,768,149 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Ccdc38 A G 10: 93,409,994 (GRCm39) N271S possibly damaging Het
Ccdc81 T G 7: 89,530,857 (GRCm39) I362L probably benign Het
Cdhr3 T A 12: 33,095,195 (GRCm39) I625F possibly damaging Het
Col12a1 T A 9: 79,569,865 (GRCm39) R1568S probably benign Het
Cpeb4 T A 11: 31,875,441 (GRCm39) S547T probably benign Het
Dennd4c T A 4: 86,743,237 (GRCm39) N1075K probably damaging Het
Esrra C A 19: 6,889,373 (GRCm39) V339L probably benign Het
Ghr A T 15: 3,487,480 (GRCm39) M1K probably null Het
Gm4987 T A X: 45,544,991 (GRCm39) noncoding transcript Het
Golga2 G T 2: 32,188,656 (GRCm39) probably benign Het
Gys1 T A 7: 45,089,012 (GRCm39) I137N probably damaging Het
Hs3st5 A T 10: 36,704,699 (GRCm39) M1L probably benign Het
Hsd3b5 T A 3: 98,529,343 (GRCm39) T96S probably benign Het
Ighv6-3 T C 12: 114,355,356 (GRCm39) D111G probably damaging Het
Ints4 G A 7: 97,187,107 (GRCm39) V866I possibly damaging Het
Large2 G T 2: 92,196,668 (GRCm39) Y529* probably null Het
Maf1 C A 15: 76,237,457 (GRCm39) Y166* probably null Het
Manba T A 3: 135,250,525 (GRCm39) M384K probably damaging Het
Mapk4 C A 18: 74,067,068 (GRCm39) probably null Het
Mc5r T C 18: 68,472,537 (GRCm39) S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 (GRCm39) N1404K probably damaging Het
Milr1 C A 11: 106,656,065 (GRCm39) Y212* probably null Het
Ncor2 A G 5: 125,114,978 (GRCm39) S1115P probably damaging Het
Or10ag57 A T 2: 87,218,049 (GRCm39) probably benign Het
Or4f61 C A 2: 111,922,812 (GRCm39) C78F probably benign Het
Osbpl7 T G 11: 96,946,377 (GRCm39) L158R probably damaging Het
Psmd4 A T 3: 94,943,221 (GRCm39) L61Q probably damaging Het
Rassf9 A T 10: 102,381,554 (GRCm39) N310I possibly damaging Het
Rpl21-ps6 A G 17: 56,222,400 (GRCm39) noncoding transcript Het
Slc31a2 T C 4: 62,215,310 (GRCm39) I119T probably damaging Het
Srgap2 C A 1: 131,220,413 (GRCm39) C187F probably damaging Het
Tekt5 C A 16: 10,196,931 (GRCm39) A307S probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn A G 2: 76,775,432 (GRCm39) V1916A unknown Het
Wee1 T G 7: 109,741,300 (GRCm39) V641G probably damaging Het
Zfand6 G A 7: 84,267,111 (GRCm39) P157L probably damaging Het
Other mutations in Immp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4907:Immp1l UTSW 2 105,767,462 (GRCm39) missense probably damaging 1.00
R5116:Immp1l UTSW 2 105,795,640 (GRCm39) missense probably benign 0.01
R6137:Immp1l UTSW 2 105,794,553 (GRCm39) missense probably damaging 1.00
R6318:Immp1l UTSW 2 105,761,172 (GRCm39) missense probably benign 0.13
R6644:Immp1l UTSW 2 105,767,390 (GRCm39) missense probably damaging 1.00
R7247:Immp1l UTSW 2 105,767,401 (GRCm39) missense probably damaging 1.00
R8511:Immp1l UTSW 2 105,761,100 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16