Mutagenetix > Incidental Mutation

Incidental Mutation 'R1183:Aars1'

101764

Institutional Source

Beutler Lab

Gene Symbol

Aars1

Ensembl Gene

ENSMUSG00000031960

Gene Name

alanyl-tRNA synthetase 1

Synonyms

Aars

MMRRC Submission

039255-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111759781-111784237 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 111768206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 192 (Y192*)

Ref Sequence

ENSEMBL: ENSMUSP00000034441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000125268]

AlphaFold

Q8BGQ7

Predicted Effect

probably null
Transcript: ENSMUST00000034441
AA Change: Y192*

SMART Domains

Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: Y192*

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: ENSMUST00000124285

Predicted Effect

probably benign
Transcript: ENSMUST00000125268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174930

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,634,677 (GRCm39)	Y1100C	probably damaging	Het
Adamtsl2	T	C	2: 26,974,092 (GRCm39)	W132R	probably damaging	Het
Adgra2	T	A	8: 27,604,416 (GRCm39)	V497E	probably damaging	Het
Adtrp	T	G	13: 41,981,813 (GRCm39)		probably benign	Het
Alg9	T	A	9: 50,700,833 (GRCm39)	L201Q	possibly damaging	Het
Ap4e1	T	A	2: 126,856,121 (GRCm39)	I84K	probably damaging	Het
Atrnl1	T	C	19: 57,638,725 (GRCm39)	S288P	probably damaging	Het
Bltp1	T	A	3: 36,949,452 (GRCm39)	L366Q	possibly damaging	Het
Cacna1a	A	G	8: 85,306,846 (GRCm39)	D1367G	probably damaging	Het
Card19	C	T	13: 49,358,727 (GRCm39)	R82Q	probably damaging	Het
Cep128	T	C	12: 91,292,372 (GRCm39)	I226V	possibly damaging	Het
Ces1f	A	C	8: 93,994,633 (GRCm39)	D259E	probably benign	Het
Ckap5	T	A	2: 91,416,611 (GRCm39)	M1072K	probably benign	Het
Dcpp2	T	A	17: 24,119,468 (GRCm39)	V94D	probably benign	Het
Dnah2	T	C	11: 69,337,474 (GRCm39)	D3209G	possibly damaging	Het
Dsg1c	A	G	18: 20,416,255 (GRCm39)	T719A	probably damaging	Het
Dsp	G	A	13: 38,375,716 (GRCm39)	W1167*	probably null	Het
Eml5	T	C	12: 98,758,305 (GRCm39)	I1874V	probably benign	Het
Epg5	A	G	18: 78,003,926 (GRCm39)	T645A	probably damaging	Het
F2rl2	T	C	13: 95,837,621 (GRCm39)	L222S	probably damaging	Het
Fam114a1	T	A	5: 65,191,731 (GRCm39)	C495S	probably damaging	Het
Fbn1	A	T	2: 125,163,537 (GRCm39)	D2106E	probably benign	Het
Fgf14	T	A	14: 124,913,936 (GRCm39)	N65I	probably benign	Het
Fip1l1	T	C	5: 74,755,763 (GRCm39)	Y497H	probably damaging	Het
Fn1	A	C	1: 71,625,404 (GRCm39)	D2376E	probably damaging	Het
Foxd2	T	C	4: 114,764,662 (GRCm39)	T453A	possibly damaging	Het
Galnt1	G	T	18: 24,404,647 (GRCm39)	W328L	probably damaging	Het
Gapt	A	G	13: 110,490,372 (GRCm39)	V97A	possibly damaging	Het
Gatad1	A	G	5: 3,693,707 (GRCm39)	V154A	possibly damaging	Het
Gdf15	A	G	8: 71,084,202 (GRCm39)	F21L	probably benign	Het
Igdcc4	T	C	9: 65,029,182 (GRCm39)	F273S	possibly damaging	Het
Invs	A	T	4: 48,421,725 (GRCm39)	R786W	possibly damaging	Het
Itfg1	T	G	8: 86,507,152 (GRCm39)	E236A	probably benign	Het
Jak3	A	T	8: 72,137,194 (GRCm39)	I752F	probably damaging	Het
Kcnip3	C	A	2: 127,306,985 (GRCm39)	G144W	probably damaging	Het
Kctd19	T	C	8: 106,109,598 (GRCm39)	H925R	probably benign	Het
Kdr	C	T	5: 76,107,511 (GRCm39)	A1011T	probably damaging	Het
Kif13b	C	A	14: 65,019,826 (GRCm39)	H1398Q	probably benign	Het
Lrp4	A	T	2: 91,307,864 (GRCm39)		probably null	Het
Lrtm2	T	C	6: 119,297,846 (GRCm39)	D65G	probably benign	Het
Lyz1	A	G	10: 117,128,715 (GRCm39)	L10P	probably damaging	Het
Metap2	A	T	10: 93,706,046 (GRCm39)	N245K	probably damaging	Het
Mms19	T	C	19: 41,943,270 (GRCm39)	D297G	possibly damaging	Het
Mocs3	A	G	2: 168,073,573 (GRCm39)	D340G	possibly damaging	Het
Mtfr1l	A	G	4: 134,256,436 (GRCm39)	L243P	probably damaging	Het
Mtss1	A	G	15: 58,842,897 (GRCm39)	I105T	probably damaging	Het
Myo18a	T	C	11: 77,748,571 (GRCm39)	S1967P	probably damaging	Het
Ncor2	T	C	5: 125,100,585 (GRCm39)	N2248S	possibly damaging	Het
Nfatc2	T	C	2: 168,432,008 (GRCm39)	D35G	possibly damaging	Het
Nup210l	T	A	3: 90,067,252 (GRCm39)	M764K	probably benign	Het
Or10a3n	A	G	7: 108,492,948 (GRCm39)	L222P	probably damaging	Het
Otof	T	C	5: 30,529,256 (GRCm39)	S1753G	probably damaging	Het
Otog	G	A	7: 45,939,179 (GRCm39)	V2070I	probably benign	Het
Piezo2	A	G	18: 63,219,824 (GRCm39)	V961A	probably damaging	Het
Pofut1	C	T	2: 153,103,158 (GRCm39)	S169L	probably benign	Het
Ppp1r10	T	A	17: 36,240,335 (GRCm39)	S542T	possibly damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Ptges3l	T	C	11: 101,312,731 (GRCm39)	D113G	possibly damaging	Het
Pycr3	G	A	15: 75,790,647 (GRCm39)	L71F	probably benign	Het
Ramp3	A	G	11: 6,624,867 (GRCm39)	K54E	possibly damaging	Het
Rbpms	C	A	8: 34,294,100 (GRCm39)	Q214H	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo4	C	A	9: 37,319,348 (GRCm39)	D565E	probably damaging	Het
S100a1	C	T	3: 90,418,641 (GRCm39)	V58I	probably benign	Het
Setx	T	A	2: 29,070,104 (GRCm39)	D2636E	probably benign	Het
Sun2	A	T	15: 79,612,669 (GRCm39)	V417E	probably damaging	Het
Tbccd1	T	C	16: 22,660,519 (GRCm39)	N99S	probably benign	Het
Tex15	A	G	8: 34,064,893 (GRCm39)	D1441G	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Trim32	A	G	4: 65,532,628 (GRCm39)	Y395C	probably benign	Het
Trpm2	A	G	10: 77,759,398 (GRCm39)	Y1129H	probably damaging	Het
Trpm8	A	T	1: 88,275,813 (GRCm39)	R470S	probably damaging	Het
Tsg101	G	T	7: 46,539,372 (GRCm39)	D389E	probably benign	Het
Ubn1	T	C	16: 4,882,406 (GRCm39)	L46P	probably damaging	Het
Ubr5	T	C	15: 37,997,419 (GRCm39)	I1745V	possibly damaging	Het
Usp20	T	C	2: 30,901,797 (GRCm39)	Y521H	probably benign	Het
Vmn1r159	A	T	7: 22,543,019 (GRCm39)	H4Q	probably null	Het
Vmn2r27	T	A	6: 124,177,491 (GRCm39)	E504D	probably benign	Het
Wdr72	A	T	9: 74,086,867 (GRCm39)	I612F	probably benign	Het
Zbtb8a	T	C	4: 129,251,520 (GRCm39)	H317R	possibly damaging	Het
Zfp507	T	C	7: 35,494,315 (GRCm39)	S243G	probably damaging	Het
Zfp764	A	G	7: 127,005,419 (GRCm39)	W73R	probably damaging	Het
Zmym4	A	T	4: 126,819,632 (GRCm39)	D90E	probably damaging	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
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
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'- GAAAACCGTGACCTCTGAAGGAGTG -3'
(R):5'- CAGAATGTCCAGGAGCACCTGAAG -3'

Sequencing Primer
(F):5'- CTTCATAAGGACTCATAGGGATGC -3'
(R):5'- GCTGTTCTCCAGCTCCAAAAG -3'

Posted On

2014-01-15