Incidental Mutation 'R6137:Immp1l'
ID 488389
Institutional Source Beutler Lab
Gene Symbol Immp1l
Ensembl Gene ENSMUSG00000042670
Gene Name IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)
MMRRC Submission 044284-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock # R6137 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 105904638-105965558 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 105964208 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 117 (G117A)
Ref Sequence ENSEMBL: ENSMUSP00000049044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037499] [ENSMUST00000102555]
AlphaFold Q9CQU8
Predicted Effect probably damaging
Transcript: ENSMUST00000037499
AA Change: G117A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049044
Gene: ENSMUSG00000042670
AA Change: G117A

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

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

DnaJ 2 64 1.13e-12 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092M07Rik A T 19: 8,740,784 D6V probably damaging Het
2310057M21Rik G T 7: 131,357,613 H165Q probably damaging Het
Akap13 T A 7: 75,677,416 F721Y probably damaging Het
Akap6 A T 12: 53,140,354 D1517V probably damaging Het
Amigo3 T A 9: 108,053,728 S117T probably damaging Het
Atf7ip2 T A 16: 10,201,411 N34K probably damaging Het
Cacnb1 A C 11: 98,005,782 V351G probably damaging Het
Casp9 T A 4: 141,805,349 probably null Het
Ccdc51 C T 9: 109,089,415 T24I probably benign Het
Cdh23 T A 10: 60,434,512 Y618F probably damaging Het
Chd1 T A 17: 15,758,688 W1271R probably damaging Het
Dars T C 1: 128,368,439 T386A probably benign Het
Dchs1 T A 7: 105,765,106 D834V probably damaging Het
Dgkd T A 1: 87,936,381 V933E possibly damaging Het
Dnah17 A G 11: 118,025,654 F4203S probably damaging Het
Fancm T C 12: 65,130,382 L2000P probably damaging Het
Fbxo11 A T 17: 88,008,669 H444Q probably benign Het
Fbxw14 T A 9: 109,276,222 T292S probably damaging Het
Fer1l6 T C 15: 58,559,206 S237P probably damaging Het
Frem3 T C 8: 80,615,047 I1323T probably benign Het
Grin2a A G 16: 9,653,449 F652L probably benign Het
Grin2b T A 6: 135,923,458 M142L possibly damaging Het
Helz A G 11: 107,619,060 Q503R possibly damaging Het
Ighv5-17 A G 12: 113,859,295 Y69H probably benign Het
Il17ra A G 6: 120,475,582 N242S probably benign Het
Itm2c T C 1: 85,894,692 V10A probably benign Het
Kif1b T C 4: 149,238,426 K679E possibly damaging Het
Kng1 T C 16: 23,074,645 V256A possibly damaging Het
Lamc2 T G 1: 153,166,153 R78S possibly damaging Het
Loxl4 A G 19: 42,598,793 F621S probably damaging Het
Lpl T A 8: 68,892,747 D134E probably damaging Het
Lypd3 T C 7: 24,640,494 Y329H probably benign Het
Mettl13 T C 1: 162,535,886 D225G probably benign Het
Myo7b A G 18: 31,999,974 F441L probably damaging Het
Nnt T A 13: 119,336,328 M699L possibly damaging Het
Nr1h3 A T 2: 91,191,851 M144K probably damaging Het
Olfr1040 A G 2: 86,145,969 V255A probably benign Het
Olfr1347 T C 7: 6,488,845 T3A probably benign Het
Olfr325 A T 11: 58,581,068 M75L probably benign Het
Pappa2 A T 1: 158,871,543 Y667N probably damaging Het
Prps1l3 A G 12: 57,238,888 I155V probably benign Het
Ptgs2 T A 1: 150,100,993 N24K probably benign Het
Ralgds A T 2: 28,547,588 M514L probably damaging Het
Rbm47 G C 5: 66,026,283 R326G probably damaging Het
Sacm1l T A 9: 123,569,005 V254D probably damaging Het
Selenot A T 3: 58,585,284 Q64L probably damaging Het
Sgsm2 G A 11: 74,850,851 R1037W probably damaging Het
Slc22a12 A G 19: 6,542,724 V10A probably benign Het
Spem2 G T 11: 69,816,696 S481* probably null Het
Styk1 C T 6: 131,311,016 G128D probably damaging Het
Tmc6 A T 11: 117,776,328 L148Q probably damaging Het
Tmem138 A C 19: 10,574,835 probably null Het
Tnpo3 A G 6: 29,555,268 V772A probably benign Het
Topaz1 T C 9: 122,797,756 F1483S possibly damaging Het
Tuba4a C A 1: 75,216,055 C305F probably damaging Het
Ubap1 T G 4: 41,379,262 F159V possibly damaging Het
Vmn2r9 A G 5: 108,849,016 I129T probably benign Het
Wwc2 A T 8: 47,856,263 M828K unknown Het
Zfp236 A T 18: 82,671,794 S187T possibly damaging Het
Other mutations in Immp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Immp1l APN 2 105937006 missense probably damaging 0.99
R4907:Immp1l UTSW 2 105937117 missense probably damaging 1.00
R5116:Immp1l UTSW 2 105965295 missense probably benign 0.01
R6318:Immp1l UTSW 2 105930827 missense probably benign 0.13
R6644:Immp1l UTSW 2 105937045 missense probably damaging 1.00
R7247:Immp1l UTSW 2 105937056 missense probably damaging 1.00
R8511:Immp1l UTSW 2 105930755 missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-10-10