Mutagenetix > Incidental Mutation

Incidental Mutation 'R3782:Aimp2'

272076

Institutional Source

Beutler Lab

Gene Symbol

Aimp2

Ensembl Gene

ENSMUSG00000029610

Gene Name

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

Synonyms

Jtv1, Aimp2(p38)

MMRRC Submission

040751-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3782 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143839522-143846657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143843517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 24 (K24N)

Ref Sequence

ENSEMBL: ENSMUSP00000098052 (fasta)

Gene Model

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

AlphaFold

Q8R010

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031613
AA Change: K64N

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610
AA Change: K64N

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

possibly damaging
Transcript: ENSMUST00000100483
AA Change: K24N

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610
AA Change: K24N

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: ENSMUST00000149473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168085

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

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf6	A	T	1: 170,622,336 (GRCm39)	Y428*	probably null	Het
BC034090	T	C	1: 155,102,024 (GRCm39)	E80G	probably damaging	Het
Calcr	T	C	6: 3,700,193 (GRCm39)	T263A	possibly damaging	Het
Cdh20	T	A	1: 109,976,734 (GRCm39)	V133E	probably benign	Het
Cpsf3	A	C	12: 21,350,067 (GRCm39)	E262A	possibly damaging	Het
Ddx5	T	C	11: 106,675,346 (GRCm39)	I330V	probably benign	Het
Dlg5	A	G	14: 24,240,378 (GRCm39)		probably benign	Het
Enam	A	T	5: 88,650,674 (GRCm39)	S653C	probably damaging	Het
Fndc3b	A	T	3: 27,514,135 (GRCm39)	V682D	possibly damaging	Het
Guf1	A	T	5: 69,724,495 (GRCm39)	M396L	probably benign	Het
H2-Q10	A	G	17: 35,781,915 (GRCm39)	Y179C	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpgd	G	A	8: 56,751,453 (GRCm39)	V94M	probably damaging	Het
Ktn1	G	A	14: 47,943,860 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,836,356 (GRCm39)	H1165P	possibly damaging	Het
Lrrfip1	A	G	1: 91,039,911 (GRCm39)	T205A	possibly damaging	Het
Mcm7	G	A	5: 138,162,998 (GRCm39)	R385W	probably damaging	Het
Mgat4c	A	G	10: 102,224,782 (GRCm39)	E332G	probably benign	Het
Mpp7	A	T	18: 7,351,085 (GRCm39)	H537Q	probably damaging	Het
Mx1	T	C	16: 97,253,195 (GRCm39)	D380G	possibly damaging	Het
Nckap5	T	A	1: 125,952,811 (GRCm39)	Q1183L	possibly damaging	Het
Nkx1-2	A	G	7: 132,199,161 (GRCm39)	V200A	probably damaging	Het
Nr3c2	T	A	8: 77,812,313 (GRCm39)		probably null	Het
Nsmce1	C	T	7: 125,085,549 (GRCm39)	V47I	probably benign	Het
Nudt3	A	G	17: 27,799,782 (GRCm39)	S134P	possibly damaging	Het
Or1e26	C	A	11: 73,479,839 (GRCm39)	G242C	probably damaging	Het
Or1e26	A	T	11: 73,480,194 (GRCm39)	Y123*	probably null	Het
Or5g9	G	A	2: 85,552,040 (GRCm39)	C97Y	probably damaging	Het
Pcnx1	A	G	12: 82,042,892 (GRCm39)	T2325A	probably benign	Het
Phactr4	A	T	4: 132,095,178 (GRCm39)		probably null	Het
Rnf7l	T	A	10: 63,257,472 (GRCm39)	H16L	probably benign	Het
Serpinb6d	T	A	13: 33,848,097 (GRCm39)	D20E	probably benign	Het
Spta1	A	T	1: 174,035,880 (GRCm39)	Y1062F	probably damaging	Het
Ssc5d	A	G	7: 4,945,790 (GRCm39)	T941A	probably benign	Het
Taf11	A	G	17: 28,122,167 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,716,533 (GRCm39)	H286R	probably damaging	Het
Tmem62	T	A	2: 120,807,948 (GRCm39)	W57R	probably damaging	Het
Vmn2r111	T	C	17: 22,790,301 (GRCm39)	Y235C	possibly damaging	Het
Vmn2r22	T	A	6: 123,627,591 (GRCm39)	K2*	probably null	Het
Vmn2r74	A	G	7: 85,605,322 (GRCm39)	V442A	probably benign	Het

Other mutations in Aimp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Aimp2	APN	5	143,843,524 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTTGGCACTCATAGACATCTGG -3'
(R):5'- AGGTCATCCTGAACAACACG -3'

Sequencing Primer
(F):5'- GGCACTCATAGACATCTGGTTTCTC -3'
(R):5'- CCTACCATAGCATGCATGTGGAG -3'

Posted On

2015-03-25