Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Aimp1'

24887

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

038516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132366242-132390131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132379747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 132 (K132Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029663] [ENSMUST00000196206] [ENSMUST00000196963] [ENSMUST00000197793] [ENSMUST00000198513]

AlphaFold

P31230

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029663
AA Change: K132Q

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029663
Gene: ENSMUSG00000028029
AA Change: K132Q

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

probably benign
Transcript: ENSMUST00000196206

SMART Domains

Protein: ENSMUSP00000142914
Gene: ENSMUSG00000028029

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
coiled coil region	8	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198513

SMART Domains

Protein: ENSMUSP00000142513
Gene: ENSMUSG00000028029

Domain	Start	End	E-Value	Type
coiled coil region	8	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200025

Meta Mutation Damage Score

0.0917

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,061 (GRCm39)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,058,205 (GRCm39)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,428,455 (GRCm39)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
Galk2	A	G	2: 125,729,808 (GRCm39)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,464,819 (GRCm39)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm39)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGTGACTTCTTTGGAATGGAGC -3'
(R):5'- TTTCTGTGACTCAGTGGAGCAAGTG -3'

Sequencing Primer
(F):5'- gcgtaagataactcacttcacc -3'
(R):5'- GTCTCCATCAGTAGCAACCA -3'

Posted On

2013-04-16