Incidental Mutation 'R5116:Immp1l'
ID 394178
Institutional Source Beutler Lab
Gene Symbol Immp1l
Ensembl Gene ENSMUSG00000042670
Gene Name IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Synonyms 1500034J20Rik, 2610528O17Rik
MMRRC Submission 042704-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R5116 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 105735013-105795904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105795640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 155 (R155H)
Ref Sequence ENSEMBL: ENSMUSP00000049044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037499] [ENSMUST00000102555]
AlphaFold Q9CQU8
Predicted Effect probably benign
Transcript: ENSMUST00000037499
AA Change: R155H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000049044
Gene: ENSMUSG00000042670
AA Change: R155H

DomainStartEndE-ValueType
Pfam:Peptidase_S24 36 107 1.8e-16 PFAM
Pfam:Peptidase_S26 95 146 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102555
SMART Domains Protein: ENSMUSP00000099615
Gene: ENSMUSG00000027166

DomainStartEndE-ValueType
DnaJ 9 73 1.7e-16 SMART
Pfam:zf-CSL 94 147 1.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151581
Predicted Effect probably benign
Transcript: ENSMUST00000155811
SMART Domains Protein: ENSMUSP00000122029
Gene: ENSMUSG00000027166

DomainStartEndE-ValueType
DnaJ 2 64 1.13e-12 SMART
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.5%
Validation Efficiency 97% (59/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,216,930 (GRCm39) H429R probably damaging Het
Adam39 G T 8: 41,278,038 (GRCm39) C143F probably damaging Het
Adamts19 T C 18: 59,036,066 (GRCm39) V417A possibly damaging Het
Adcy10 C A 1: 165,347,069 (GRCm39) A362E probably damaging Het
Akap6 A G 12: 53,188,298 (GRCm39) E1904G probably benign Het
Aldh18a1 A G 19: 40,541,949 (GRCm39) M89T probably benign Het
Alyref G T 11: 120,488,554 (GRCm39) F91L probably benign Het
Capn3 G T 2: 120,315,773 (GRCm39) M248I probably benign Het
Catsper4 A T 4: 133,953,991 (GRCm39) I56N probably damaging Het
Cckbr T A 7: 105,082,862 (GRCm39) I75N probably damaging Het
Ccr8 T C 9: 119,923,095 (GRCm39) I70T probably benign Het
Cdh24 T C 14: 54,873,870 (GRCm39) D428G probably benign Het
Cdk5rap2 G T 4: 70,225,475 (GRCm39) Q557K possibly damaging Het
Clip1 C T 5: 123,768,770 (GRCm39) A610T probably benign Het
Dnajc16 A T 4: 141,495,280 (GRCm39) Y479* probably null Het
Fpr-rs3 A G 17: 20,844,562 (GRCm39) V193A probably benign Het
Gm29125 T C 1: 80,361,690 (GRCm39) noncoding transcript Het
H1f4 A G 13: 23,806,270 (GRCm39) Y71H probably damaging Het
Ifi208 A G 1: 173,505,549 (GRCm39) probably benign Het
Itgad C A 7: 127,803,065 (GRCm39) T7K probably damaging Het
Itgb3 T C 11: 104,531,903 (GRCm39) V370A probably benign Het
Jak1 A G 4: 101,012,310 (GRCm39) I1053T probably benign Het
Kif21b A G 1: 136,080,521 (GRCm39) R572G probably damaging Het
Lama2 A T 10: 26,994,556 (GRCm39) D1784E probably benign Het
Ltbp2 A T 12: 84,856,511 (GRCm39) V651D probably damaging Het
Mrpl47 A G 3: 32,787,750 (GRCm39) L100S probably damaging Het
Mx1 T G 16: 97,258,679 (GRCm39) N6T possibly damaging Het
Nde1 T A 16: 14,001,351 (GRCm39) M133K probably benign Het
Nlrc5 T C 8: 95,208,488 (GRCm39) L778P probably damaging Het
Odad3 A G 9: 21,901,424 (GRCm39) *595Q probably null Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or5l13 G A 2: 87,779,873 (GRCm39) R235C probably benign Het
Or6c3b A G 10: 129,527,266 (GRCm39) S215P probably damaging Het
Or7g32 A G 9: 19,389,094 (GRCm39) S151P possibly damaging Het
Or8b38 T C 9: 37,972,634 (GRCm39) V6A probably benign Het
Otog T C 7: 45,923,191 (GRCm39) V1022A probably benign Het
Pcdhac1 G A 18: 37,224,500 (GRCm39) V438M probably damaging Het
Pcsk5 G A 19: 17,440,798 (GRCm39) S1264F possibly damaging Het
Pfas T C 11: 68,881,816 (GRCm39) probably benign Het
Pigr T A 1: 130,776,768 (GRCm39) F648I probably benign Het
Pla2r1 A C 2: 60,279,250 (GRCm39) Y777D probably damaging Het
Pnpla7 G T 2: 24,911,982 (GRCm39) G716V probably damaging Het
Rab11fip5 C T 6: 85,325,789 (GRCm39) E206K probably damaging Het
S100a10 A G 3: 93,468,247 (GRCm39) probably null Het
Slc35f1 T C 10: 52,897,991 (GRCm39) I134T probably benign Het
Smarcd1 C T 15: 99,600,369 (GRCm39) A56V probably benign Het
Snrk A G 9: 121,989,396 (GRCm39) T247A probably benign Het
Srgap1 A G 10: 121,628,284 (GRCm39) L896P possibly damaging Het
Tmem19 A T 10: 115,179,651 (GRCm39) F167I probably benign Het
Tmprss11f T C 5: 86,687,555 (GRCm39) S118G probably benign Het
Tnc A G 4: 63,885,452 (GRCm39) probably null Het
Trem3 T C 17: 48,556,580 (GRCm39) L17P probably benign Het
Upp2 A G 2: 58,661,554 (GRCm39) Y67C probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Zfp932 T A 5: 110,157,242 (GRCm39) D280E probably benign Het
Other mutations in Immp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Immp1l APN 2 105,767,351 (GRCm39) missense probably damaging 0.99
R4907:Immp1l UTSW 2 105,767,462 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGTCATGTTTGAATGCCTCAGAG -3'
(R):5'- GAGATAGTCATCTGGATTTCTTCCC -3'

Sequencing Primer
(F):5'- TGAATGCCTCAGAGTAAATATACATG -3'
(R):5'- GTTCATGGTTTCAACTGTAG -3'
Posted On 2016-06-15