Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Aars1'

40895

Institutional Source

Beutler Lab

Gene Symbol

Aars1

Ensembl Gene

ENSMUSG00000031960

Gene Name

alanyl-tRNA synthetase 1

Synonyms

Aars

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0049 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

111759781-111784237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111779083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 739 (I739K)

Ref Sequence

ENSEMBL: ENSMUSP00000034441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000210390]

AlphaFold

Q8BGQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034441
AA Change: I739K

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: I739K

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2c	9	597	9.2e-228	PFAM
tRNA_SAD	694	753	5.97e-18	SMART
Pfam:DHHA1	885	957	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128320

Predicted Effect

probably benign
Transcript: ENSMUST00000210390

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (114/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Abcb1b	T	A	5: 8,875,661 (GRCm39)	H611Q	probably damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Adgre1	T	A	17: 57,709,841 (GRCm39)	L166*	probably null	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Akna	T	A	4: 63,312,872 (GRCm39)	Q417L	probably damaging	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef10	A	C	8: 15,004,446 (GRCm39)	R360S	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,766,899 (GRCm39)	T58A	possibly damaging	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap36	A	T	11: 29,196,514 (GRCm39)		probably null	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Chadl	T	C	15: 81,578,213 (GRCm39)	D6G	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Crtc1	A	G	8: 70,844,509 (GRCm39)		probably null	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Dst	A	T	1: 34,314,862 (GRCm39)	N4267Y	probably damaging	Het
Duox2	T	A	2: 122,127,167 (GRCm39)	D170V	possibly damaging	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
Elf1	T	C	14: 79,802,965 (GRCm39)	L106P	probably damaging	Het
Exoc4	G	C	6: 33,273,857 (GRCm39)		probably null	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gga3	C	A	11: 115,477,915 (GRCm39)	G558*	probably null	Het
Glt1d1	T	C	5: 127,740,391 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Hcn4	T	C	9: 58,767,582 (GRCm39)	S1048P	probably damaging	Het
Henmt1	T	A	3: 108,861,105 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Myh3	C	T	11: 66,990,498 (GRCm39)	R1677C	probably damaging	Het
Mynn	T	A	3: 30,661,230 (GRCm39)	*61K	probably null	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Oas1e	C	A	5: 120,933,395 (GRCm39)	A57S	probably benign	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Or14j10	T	A	17: 37,935,024 (GRCm39)	R167S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pnp2	T	A	14: 51,196,990 (GRCm39)	Y25*	probably null	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Ppp1r12a	A	G	10: 108,089,193 (GRCm39)	N611D	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Prl6a1	A	T	13: 27,501,980 (GRCm39)	I116F	probably damaging	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Satb1	T	A	17: 52,047,374 (GRCm39)	Q647L	probably benign	Het
Sec31b	T	C	19: 44,508,847 (GRCm39)		probably benign	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
Smchd1	T	C	17: 71,738,231 (GRCm39)	I545V	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Tdrd5	A	T	1: 156,129,473 (GRCm39)	I79N	probably damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Tnxb	T	A	17: 34,928,542 (GRCm39)	V2652E	possibly damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Ubtd2	A	C	11: 32,449,223 (GRCm39)		probably null	Het
Ubtd2	G	T	11: 32,449,224 (GRCm39)		probably null	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Vwa8	T	A	14: 79,331,179 (GRCm39)	M1229K	probably benign	Het
Wdr76	C	T	2: 121,349,932 (GRCm39)	R111C	probably damaging	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Aars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Aars1	APN	8	111,774,604 (GRCm39)	missense	possibly damaging	0.86
IGL00731:Aars1	APN	8	111,771,501 (GRCm39)	splice site	probably benign
IGL00826:Aars1	APN	8	111,766,932 (GRCm39)	missense	probably damaging	1.00
IGL01521:Aars1	APN	8	111,770,419 (GRCm39)	missense	possibly damaging	0.85
IGL01885:Aars1	APN	8	111,774,575 (GRCm39)	missense	possibly damaging	0.89
IGL01920:Aars1	APN	8	111,769,878 (GRCm39)	missense	probably damaging	1.00
IGL01934:Aars1	APN	8	111,774,650 (GRCm39)	missense	probably damaging	0.98
IGL02013:Aars1	APN	8	111,773,698 (GRCm39)	missense	probably damaging	0.99
IGL02489:Aars1	APN	8	111,780,847 (GRCm39)	unclassified	probably benign
IGL02683:Aars1	APN	8	111,779,163 (GRCm39)	unclassified	probably benign
IGL03084:Aars1	APN	8	111,768,261 (GRCm39)	missense	probably damaging	1.00
H8786:Aars1	UTSW	8	111,772,187 (GRCm39)	missense	probably benign
R0037:Aars1	UTSW	8	111,769,891 (GRCm39)	missense	possibly damaging	0.77
R0049:Aars1	UTSW	8	111,779,083 (GRCm39)	missense	possibly damaging	0.75
R0577:Aars1	UTSW	8	111,769,910 (GRCm39)	missense	probably benign	0.10
R1183:Aars1	UTSW	8	111,768,206 (GRCm39)	nonsense	probably null
R1642:Aars1	UTSW	8	111,769,882 (GRCm39)	missense	possibly damaging	0.77
R1829:Aars1	UTSW	8	111,769,338 (GRCm39)	missense	probably damaging	1.00
R1857:Aars1	UTSW	8	111,766,789 (GRCm39)	missense	probably damaging	0.99
R2190:Aars1	UTSW	8	111,766,785 (GRCm39)	missense	probably damaging	1.00
R2303:Aars1	UTSW	8	111,779,134 (GRCm39)	missense	possibly damaging	0.84
R3918:Aars1	UTSW	8	111,766,774 (GRCm39)	missense	probably damaging	1.00
R4001:Aars1	UTSW	8	111,768,234 (GRCm39)	missense	probably damaging	1.00
R4434:Aars1	UTSW	8	111,781,253 (GRCm39)	missense	probably null	0.74
R4909:Aars1	UTSW	8	111,781,715 (GRCm39)	missense	probably damaging	1.00
R4970:Aars1	UTSW	8	111,770,311 (GRCm39)	missense	probably benign	0.00
R5639:Aars1	UTSW	8	111,769,866 (GRCm39)	missense	probably benign	0.01
R5991:Aars1	UTSW	8	111,777,032 (GRCm39)	missense	probably damaging	1.00
R6403:Aars1	UTSW	8	111,768,881 (GRCm39)	missense	possibly damaging	0.87
R6521:Aars1	UTSW	8	111,769,968 (GRCm39)	missense	probably benign	0.01
R6956:Aars1	UTSW	8	111,781,762 (GRCm39)	missense	probably benign	0.38
R7378:Aars1	UTSW	8	111,768,974 (GRCm39)	missense	probably damaging	1.00
R7625:Aars1	UTSW	8	111,773,587 (GRCm39)	missense	probably damaging	0.99
R7745:Aars1	UTSW	8	111,768,289 (GRCm39)	missense	probably damaging	1.00
R7792:Aars1	UTSW	8	111,769,896 (GRCm39)	missense	possibly damaging	0.75
R7860:Aars1	UTSW	8	111,776,493 (GRCm39)	missense	probably benign	0.16
R8109:Aars1	UTSW	8	111,767,284 (GRCm39)	missense	probably benign
R8197:Aars1	UTSW	8	111,780,628 (GRCm39)	missense	probably benign	0.44
R8322:Aars1	UTSW	8	111,772,160 (GRCm39)	missense	possibly damaging	0.93
R8343:Aars1	UTSW	8	111,767,361 (GRCm39)	missense	probably damaging	1.00
R8683:Aars1	UTSW	8	111,768,881 (GRCm39)	missense	possibly damaging	0.87
R8783:Aars1	UTSW	8	111,776,515 (GRCm39)	missense	probably benign	0.01
R8977:Aars1	UTSW	8	111,766,849 (GRCm39)	missense	probably damaging	1.00
R9087:Aars1	UTSW	8	111,768,169 (GRCm39)	missense	probably damaging	1.00
R9401:Aars1	UTSW	8	111,780,785 (GRCm39)	missense	probably benign	0.24
R9561:Aars1	UTSW	8	111,763,615 (GRCm39)	missense	probably damaging	1.00
R9576:Aars1	UTSW	8	111,768,296 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTTGGCTTCTGAGCTATGC -3'
(R):5'- TTACACTCACACGGAGCTGTGC -3'

Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- gtgcctttttgtactaagccc -3'

Posted On

2013-05-23