Incidental Mutation 'IGL02432:Aimp1'
ID 293170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aimp1
Ensembl Gene ENSMUSG00000028029
Gene Name aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
Synonyms Scye1, Emap2, EMAPII, 9830137A06Rik, AIMP1/p43
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # IGL02432
Quality Score
Status
Chromosome 3
Chromosomal Location 132366242-132390131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132379738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
Ref Sequence ENSEMBL: ENSMUSP00000029663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029663] [ENSMUST00000196206] [ENSMUST00000196963] [ENSMUST00000197793] [ENSMUST00000198513]
AlphaFold P31230
Predicted Effect probably benign
Transcript: ENSMUST00000029663
AA Change: T135A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029663
Gene: ENSMUSG00000028029
AA Change: T135A

DomainStartEndE-ValueType
coiled coil region 17 84 N/A INTRINSIC
low complexity region 124 144 N/A INTRINSIC
Pfam:tRNA_bind 164 257 2.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196206
SMART Domains Protein: ENSMUSP00000142914
Gene: ENSMUSG00000028029

DomainStartEndE-ValueType
coiled coil region 8 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197646
Predicted Effect probably benign
Transcript: ENSMUST00000197793
SMART Domains Protein: ENSMUSP00000142534
Gene: ENSMUSG00000028029

DomainStartEndE-ValueType
coiled coil region 8 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198513
SMART Domains Protein: ENSMUSP00000142513
Gene: ENSMUSG00000028029

DomainStartEndE-ValueType
coiled coil region 8 75 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200025
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display delayed wound healing and decreased inflammatory response after wounding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,314,481 (GRCm39) T399M probably benign Het
A830018L16Rik A T 1: 11,818,303 (GRCm39) N321I probably damaging Het
Ascc3 T C 10: 50,576,589 (GRCm39) M848T probably damaging Het
Cry2 T C 2: 92,244,012 (GRCm39) D387G probably damaging Het
Daxx G A 17: 34,131,311 (GRCm39) D413N probably benign Het
Gbp6 A T 5: 105,422,228 (GRCm39) V492E probably benign Het
Itpr2 T A 6: 146,226,671 (GRCm39) M1358L probably benign Het
Med13l T A 5: 118,876,465 (GRCm39) D880E possibly damaging Het
Mmd2 A T 5: 142,561,094 (GRCm39) I47N probably damaging Het
Mroh2b G A 15: 4,943,668 (GRCm39) M401I probably benign Het
Nrip1 T C 16: 76,088,668 (GRCm39) K963R probably benign Het
Otop2 A G 11: 115,219,988 (GRCm39) H276R probably damaging Het
Pxn T A 5: 115,683,805 (GRCm39) D79E probably damaging Het
Rho G A 6: 115,909,146 (GRCm39) V61I probably damaging Het
Rtp1 A G 16: 23,250,154 (GRCm39) Y173C probably damaging Het
Slc6a17 T C 3: 107,400,493 (GRCm39) D212G possibly damaging Het
Stpg1 A G 4: 135,235,321 (GRCm39) E54G probably damaging Het
Tas2r119 A G 15: 32,177,853 (GRCm39) T140A probably benign Het
Traf3ip3 C T 1: 192,866,884 (GRCm39) C316Y probably damaging Het
Ttc28 G A 5: 111,371,101 (GRCm39) A517T probably damaging Het
Vmn1r30 T C 6: 58,412,655 (GRCm39) N59S probably benign Het
Vmn2r4 C T 3: 64,313,821 (GRCm39) V387M probably benign Het
Other mutations in Aimp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Aimp1 APN 3 132,382,904 (GRCm39) splice site probably benign
IGL00742:Aimp1 APN 3 132,377,742 (GRCm39) nonsense probably null
IGL01863:Aimp1 APN 3 132,377,853 (GRCm39) missense probably benign 0.03
R0305:Aimp1 UTSW 3 132,379,747 (GRCm39) missense possibly damaging 0.89
R0699:Aimp1 UTSW 3 132,380,626 (GRCm39) splice site probably benign
R1734:Aimp1 UTSW 3 132,380,557 (GRCm39) missense probably damaging 1.00
R1793:Aimp1 UTSW 3 132,379,825 (GRCm39) missense probably benign 0.21
R1975:Aimp1 UTSW 3 132,382,860 (GRCm39) missense possibly damaging 0.81
R2010:Aimp1 UTSW 3 132,373,253 (GRCm39) missense probably benign 0.01
R4424:Aimp1 UTSW 3 132,373,253 (GRCm39) missense probably benign 0.01
R4583:Aimp1 UTSW 3 132,382,808 (GRCm39) missense probably damaging 0.99
R6135:Aimp1 UTSW 3 132,377,844 (GRCm39) missense probably benign 0.30
R6285:Aimp1 UTSW 3 132,373,265 (GRCm39) missense possibly damaging 0.81
R7270:Aimp1 UTSW 3 132,382,772 (GRCm39) missense probably damaging 1.00
R7662:Aimp1 UTSW 3 132,379,827 (GRCm39) missense probably benign 0.00
R8782:Aimp1 UTSW 3 132,373,242 (GRCm39) missense possibly damaging 0.49
X0057:Aimp1 UTSW 3 132,382,873 (GRCm39) start codon destroyed probably null 1.00
Posted On 2015-04-16