Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00093:Aimp2'

1600

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aimp2

Ensembl Gene

ENSMUSG00000029610

Gene Name

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

Synonyms

Jtv1, Aimp2(p38)

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00093

Quality Score

Status

Chromosome

Chromosomal Location

143839522-143846657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143843524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 22 (I22N)

Ref Sequence

ENSEMBL: ENSMUSP00000098052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031613] [ENSMUST00000100483] [ENSMUST00000100487] [ENSMUST00000110709] [ENSMUST00000148011]

AlphaFold

Q8R010

Predicted Effect

probably damaging
Transcript: ENSMUST00000031613
AA Change: I62N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610
AA Change: I62N

Domain	Start	End	E-Value	Type
Pfam:AIMP2_LysRS_bd	1	44	8.3e-26	PFAM
low complexity region	133	142	N/A	INTRINSIC
Pfam:GST_C_3	231	308	2.5e-10	PFAM
Pfam:GST_C	242	310	5e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100483
AA Change: I22N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610
AA Change: I22N

Domain	Start	End	E-Value	Type
low complexity region	93	102	N/A	INTRINSIC
Pfam:GST_C_3	185	268	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100487

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	62	81	N/A	INTRINSIC
Pfam:Pkinase_Tyr	167	242	5.6e-6	PFAM
Pfam:Pkinase	167	257	1.9e-15	PFAM
low complexity region	314	320	N/A	INTRINSIC
Pfam:Pkinase	365	580	1.3e-31	PFAM
Pfam:Pkinase_Tyr	373	578	1.9e-19	PFAM
coiled coil region	585	619	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110707

Predicted Effect

probably benign
Transcript: ENSMUST00000110709

SMART Domains

Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109

Domain	Start	End	E-Value	Type
HATPase_c	30	165	3.77e-1	SMART
MutL_C	277	421	1.59e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147910

Predicted Effect

probably benign
Transcript: ENSMUST00000148011

SMART Domains

Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109

Domain	Start	End	E-Value	Type
HATPase_c	30	165	3.77e-1	SMART
DNA_mis_repair	227	364	4.76e-41	SMART
MutL_C	675	819	1.59e-36	SMART

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 part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele are born with no apparent phenotype but die within 2 days of birth of unknown causes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,310 (GRCm39)	D60G	probably damaging	Het
Abca2	T	A	2: 25,335,975 (GRCm39)		probably null	Het
Adamts14	C	T	10: 61,065,455 (GRCm39)	R348H	probably damaging	Het
Cacna1c	A	G	6: 118,653,405 (GRCm39)		probably benign	Het
Cfap221	A	T	1: 119,860,575 (GRCm39)	Y684N	possibly damaging	Het
Cfap300	A	G	9: 8,022,433 (GRCm39)	V263A	probably benign	Het
Cldn6	T	A	17: 23,900,698 (GRCm39)		probably benign	Het
Copb2	A	G	9: 98,450,130 (GRCm39)	M30V	probably benign	Het
Dcaf17	G	A	2: 70,908,503 (GRCm39)	E243K	probably benign	Het
Dhx35	T	C	2: 158,669,836 (GRCm39)	Y257H	probably damaging	Het
Dnai3	C	T	3: 145,788,759 (GRCm39)	G274E	probably benign	Het
Dzank1	A	T	2: 144,323,645 (GRCm39)	Y600*	probably null	Het
Flvcr1	T	A	1: 190,747,686 (GRCm39)	R201*	probably null	Het
Fstl4	G	A	11: 53,077,102 (GRCm39)	V620I	probably benign	Het
Gm21976	G	A	13: 98,439,069 (GRCm39)	V20M	probably benign	Het
Ifi208	T	C	1: 173,506,604 (GRCm39)		probably null	Het
Kdm4c	T	C	4: 74,263,738 (GRCm39)	V674A	probably benign	Het
Lig1	T	A	7: 13,035,378 (GRCm39)	Y612*	probably null	Het
Marco	A	G	1: 120,413,432 (GRCm39)	V295A	probably benign	Het
Myo5c	T	C	9: 75,150,162 (GRCm39)		probably benign	Het
Or1e34	A	G	11: 73,779,075 (GRCm39)	L41P	probably damaging	Het
Or51a42	T	C	7: 103,708,623 (GRCm39)	Y62C	probably damaging	Het
Or6c217	T	A	10: 129,738,528 (GRCm39)	D17V	possibly damaging	Het
Pkd1l1	A	G	11: 8,911,971 (GRCm39)	M245T	unknown	Het
Pomt1	A	G	2: 32,131,784 (GRCm39)	I158V	probably benign	Het
Ptpn21	A	G	12: 98,646,727 (GRCm39)	W967R	probably damaging	Het
Rrp12	A	T	19: 41,875,533 (GRCm39)	M270K	possibly damaging	Het
Spats2	A	G	15: 99,078,474 (GRCm39)	E179G	possibly damaging	Het
Tapbp	T	C	17: 34,138,866 (GRCm39)	V11A	probably benign	Het
Tasor	T	G	14: 27,170,163 (GRCm39)	L364R	probably damaging	Het
Tonsl	A	G	15: 76,522,696 (GRCm39)	F185S	possibly damaging	Het
Trpm1	A	G	7: 63,893,198 (GRCm39)	I901V	probably damaging	Het
Tulp2	A	G	7: 45,171,332 (GRCm39)	N371S	probably damaging	Het
Unc5d	A	T	8: 29,209,854 (GRCm39)	V433D	probably damaging	Het
Wasf3	G	A	5: 146,392,461 (GRCm39)	R177Q	probably damaging	Het
Zfp715	A	T	7: 42,949,173 (GRCm39)	H262Q	possibly damaging	Het
Zftraf1	A	G	15: 76,530,738 (GRCm39)	I194T	probably damaging	Het

Other mutations in Aimp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0630:Aimp2	UTSW	5	143,843,419 (GRCm39)	missense	probably benign	0.00
R1185:Aimp2	UTSW	5	143,841,509 (GRCm39)	missense	possibly damaging	0.82
R1185:Aimp2	UTSW	5	143,841,509 (GRCm39)	missense	possibly damaging	0.82
R1185:Aimp2	UTSW	5	143,841,509 (GRCm39)	missense	possibly damaging	0.82
R1992:Aimp2	UTSW	5	143,843,548 (GRCm39)	missense	probably damaging	1.00
R2888:Aimp2	UTSW	5	143,846,553 (GRCm39)	unclassified	probably benign
R3030:Aimp2	UTSW	5	143,843,509 (GRCm39)	missense	probably damaging	1.00
R3782:Aimp2	UTSW	5	143,843,517 (GRCm39)	missense	possibly damaging	0.54
R5510:Aimp2	UTSW	5	143,843,347 (GRCm39)	unclassified	probably benign
R5689:Aimp2	UTSW	5	143,843,389 (GRCm39)	missense	possibly damaging	0.51
R8019:Aimp2	UTSW	5	143,846,412 (GRCm39)	missense	probably benign	0.01
R8777:Aimp2	UTSW	5	143,839,825 (GRCm39)	missense	probably damaging	0.99
R8777-TAIL:Aimp2	UTSW	5	143,839,825 (GRCm39)	missense	probably damaging	0.99

Posted On

2011-07-12