Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Aimp1'

508156

Institutional Source

Beutler Lab

Gene Symbol

Aimp1

Ensembl Gene

ENSMUSG00000028029

Gene Name

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1

Synonyms

Scye1, Emap2, EMAPII, 9830137A06Rik, AIMP1/p43

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132366242-132390131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132373265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 225 (M225T)

Ref Sequence

ENSEMBL: ENSMUSP00000029663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029663]

AlphaFold

P31230

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029663
AA Change: M225T

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029663
Gene: ENSMUSG00000028029
AA Change: M225T

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000197646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200025

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in Aimp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02432:Aimp1	APN	3	132,379,738 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACATGTGGCGTTATGCTCAC -3'
(R):5'- TAGATACACAGAGACAGGTATAGCC -3'

Sequencing Primer
(F):5'- GATACACACACAGGACTGGTTTTAAC -3'
(R):5'- CCAGAAAGGCAGTCTTATTTGATAAG -3'

Posted On

2018-03-15