Incidental Mutation 'IGL01863:Aimp1'
ID178428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aimp1
Ensembl Gene ENSMUSG00000028029
Gene Nameaminoacyl tRNA synthetase complex-interacting multifunctional protein 1
Synonyms9830137A06Rik, AIMP1/p43, Scye1, Emap2, EMAPII
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.602) question?
Stock #IGL01863
Quality Score
Status
Chromosome3
Chromosomal Location132660499-132684370 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132672092 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 171 (T171A)
Ref Sequence ENSEMBL: ENSMUSP00000029663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029663] [ENSMUST00000196206] [ENSMUST00000196963] [ENSMUST00000197793] [ENSMUST00000198513]
Predicted Effect probably benign
Transcript: ENSMUST00000029663
AA Change: T171A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029663
Gene: ENSMUSG00000028029
AA Change: T171A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 I326F possibly damaging Het
Armc4 T C 18: 7,222,617 T551A probably damaging Het
Ash1l T A 3: 88,985,506 L1564* probably null Het
Atp1a1 G T 3: 101,591,889 Y131* probably null Het
Celsr2 T C 3: 108,394,022 E2686G probably benign Het
Cyp4f18 A G 8: 71,989,926 V395A possibly damaging Het
Ephb2 T C 4: 136,659,777 Q713R probably benign Het
Esf1 A T 2: 140,120,679 M824K probably benign Het
Fam46c C T 3: 100,472,664 D259N probably benign Het
Fat4 T C 3: 38,970,619 probably benign Het
Gem A G 4: 11,705,980 I23V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Il6st A G 13: 112,504,210 E779G possibly damaging Het
Lama3 T A 18: 12,419,936 probably benign Het
Lipi A C 16: 75,550,226 I435R probably damaging Het
Lrrc6 A T 15: 66,396,974 probably benign Het
Olfr291 T C 7: 84,856,411 L14P probably damaging Het
Omg C T 11: 79,502,224 M269I probably benign Het
Optn A T 2: 5,021,487 probably benign Het
Pex1 A G 5: 3,606,066 T298A probably benign Het
Rab27b T A 18: 69,989,554 R111S probably damaging Het
Rhbdf1 T G 11: 32,213,484 E329D probably benign Het
Slc2a13 T C 15: 91,516,492 I176V probably benign Het
Slc30a1 T A 1: 191,909,084 C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 C509S probably damaging Het
Slfn9 T C 11: 82,981,325 R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b T C 7: 80,274,311 probably null Het
Wrap73 A G 4: 154,145,333 I54V probably benign Het
Other mutations in Aimp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Aimp1 APN 3 132677143 splice site probably benign
IGL00742:Aimp1 APN 3 132671981 nonsense probably null
IGL02432:Aimp1 APN 3 132673977 missense probably benign
R0305:Aimp1 UTSW 3 132673986 missense possibly damaging 0.89
R0699:Aimp1 UTSW 3 132674865 splice site probably benign
R1734:Aimp1 UTSW 3 132674796 missense probably damaging 1.00
R1793:Aimp1 UTSW 3 132674064 missense probably benign 0.21
R1975:Aimp1 UTSW 3 132677099 missense possibly damaging 0.81
R2010:Aimp1 UTSW 3 132667492 missense probably benign 0.01
R4424:Aimp1 UTSW 3 132667492 missense probably benign 0.01
R4583:Aimp1 UTSW 3 132677047 missense probably damaging 0.99
R6135:Aimp1 UTSW 3 132672083 missense probably benign 0.30
R6285:Aimp1 UTSW 3 132667504 missense possibly damaging 0.81
R7270:Aimp1 UTSW 3 132677011 missense probably damaging 1.00
X0057:Aimp1 UTSW 3 132677112 start codon destroyed probably null 1.00
Posted On2014-05-07