Mutagenetix > Incidental Mutation

Incidental Mutation 'R9087:Aars1'

690694

Institutional Source

Beutler Lab

Gene Symbol

Aars1

Ensembl Gene

ENSMUSG00000031960

Gene Name

alanyl-tRNA synthetase 1

Synonyms

Aars

MMRRC Submission

068906-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111759781-111784237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111768169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

Ref Sequence

ENSEMBL: ENSMUSP00000034441 (fasta)

Gene Model

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

AlphaFold

Q8BGQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034441
AA Change: D180G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: D180G

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

probably benign
Transcript: ENSMUST00000125268

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,150,211 (GRCm39)	I649K	probably damaging	Het
Ace	T	C	11: 105,872,745 (GRCm39)	F969S	probably damaging	Het
Ankrd26	A	G	6: 118,536,230 (GRCm39)		probably null	Het
Apobec1	A	T	6: 122,558,700 (GRCm39)	L9*	probably null	Het
Atp13a1	A	G	8: 70,256,457 (GRCm39)	D865G	probably damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
Bbx	T	C	16: 50,094,998 (GRCm39)	D106G	probably damaging	Het
Cacna1a	G	A	8: 85,365,432 (GRCm39)	A2192T	probably benign	Het
Cacnb1	T	C	11: 97,893,833 (GRCm39)	N563S	possibly damaging	Het
Capn5	A	T	7: 97,775,531 (GRCm39)	I470N	probably damaging	Het
Cd300c	T	C	11: 114,850,591 (GRCm39)	T71A	probably damaging	Het
Celf4	T	A	18: 25,637,327 (GRCm39)	S223C	probably damaging	Het
Cftr	A	C	6: 18,214,180 (GRCm39)	I119L	possibly damaging	Het
Cmya5	T	C	13: 93,233,711 (GRCm39)	E459G	possibly damaging	Het
Cntn2	A	G	1: 132,453,108 (GRCm39)	Y395H	probably damaging	Het
Cntnap3	T	C	13: 64,899,532 (GRCm39)	D987G	probably damaging	Het
Col5a2	T	A	1: 45,481,818 (GRCm39)	D102V	unknown	Het
Cpeb2	T	C	5: 43,438,461 (GRCm39)	F812L		Het
Cpsf3	T	A	12: 21,358,995 (GRCm39)	L565Q	probably damaging	Het
Ctnnd1	A	C	2: 84,439,922 (GRCm39)	L796R	probably damaging	Het
Dach1	A	G	14: 98,406,267 (GRCm39)	L160P	probably benign	Het
Dennd1a	A	C	2: 37,911,366 (GRCm39)		probably null	Het
Dnah12	T	C	14: 26,546,503 (GRCm39)	I2431T	probably damaging	Het
Ep400	A	T	5: 110,815,430 (GRCm39)	Y2887*	probably null	Het
Erich1	T	C	8: 14,083,623 (GRCm39)	D149G	probably damaging	Het
Fut2	T	C	7: 45,300,493 (GRCm39)	N93S	probably damaging	Het
Gba2	C	T	4: 43,568,304 (GRCm39)	A688T	probably benign	Het
Gcm2	C	G	13: 41,263,406 (GRCm39)	E9Q		Het
Gfod1	T	C	13: 43,353,838 (GRCm39)	E379G	probably damaging	Het
Gfod2	A	G	8: 106,454,851 (GRCm39)	F10L	probably damaging	Het
Gm4871	T	G	5: 144,969,088 (GRCm39)	H75P	possibly damaging	Het
Gtpbp3	T	A	8: 71,944,999 (GRCm39)	V418E	probably benign	Het
Hif1a	T	A	12: 73,989,099 (GRCm39)	I688K	probably benign	Het
Ifi44	G	T	3: 151,451,517 (GRCm39)	S196R	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,911,957 (GRCm39)	K569E	probably benign	Het
Klkb1	G	A	8: 45,728,515 (GRCm39)	Q415*	probably null	Het
L1td1	A	G	4: 98,624,699 (GRCm39)	D298G	possibly damaging	Het
L2hgdh	C	T	12: 69,749,131 (GRCm39)	R252Q	probably benign	Het
Lipc	C	G	9: 70,709,390 (GRCm39)	K452N	probably benign	Het
Lrp10	C	A	14: 54,705,621 (GRCm39)	S270R	probably damaging	Het
Ly6e	T	G	15: 74,829,649 (GRCm39)	L14R	probably benign	Het
Mast3	T	C	8: 71,242,330 (GRCm39)	D90G	possibly damaging	Het
Mmp27	T	C	9: 7,579,858 (GRCm39)	F444S	probably damaging	Het
Mrgpra2b	A	T	7: 47,114,518 (GRCm39)	N71K	probably benign	Het
Nbea	C	A	3: 55,550,157 (GRCm39)		probably null	Het
Ndufb10	A	G	17: 24,943,159 (GRCm39)		probably null	Het
Ndufb9	C	T	15: 58,811,151 (GRCm39)	P146S	probably benign	Het
Nhsl1	T	C	10: 18,407,030 (GRCm39)	V1388A	probably damaging	Het
Nomo1	C	A	7: 45,732,748 (GRCm39)	D1170E	probably benign	Het
Nop2	G	T	6: 125,114,391 (GRCm39)	R254L	probably benign	Het
Nup160	A	T	2: 90,514,429 (GRCm39)	T126S	probably benign	Het
Opa1	A	G	16: 29,437,053 (GRCm39)	D654G	probably damaging	Het
Or1j15	T	C	2: 36,459,345 (GRCm39)	L245P	probably damaging	Het
Or2j6	A	T	7: 139,980,547 (GRCm39)	C137*	probably null	Het
Or51h1	A	G	7: 102,308,964 (GRCm39)	K312R	probably benign	Het
Or52e8b	C	T	7: 104,673,910 (GRCm39)	W92*	probably null	Het
Or5aq1b	A	G	2: 86,902,299 (GRCm39)	Y60H	probably damaging	Het
Or5p68	A	G	7: 107,945,958 (GRCm39)	S77P	probably damaging	Het
Or8b52	A	G	9: 38,576,711 (GRCm39)	L143P	probably damaging	Het
Or8k18	A	G	2: 86,085,380 (GRCm39)	M219T	probably benign	Het
Osbp2	T	A	11: 3,667,976 (GRCm39)	D7V	probably damaging	Het
Osr2	A	T	15: 35,301,010 (GRCm39)	I189F	probably damaging	Het
Pdlim5	A	G	3: 142,058,594 (GRCm39)	V50A	possibly damaging	Het
Pik3r3	A	G	4: 116,148,931 (GRCm39)	N334S	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppfia4	A	G	1: 134,240,326 (GRCm39)	I889T	probably damaging	Het
Prpf38b	T	C	3: 108,811,657 (GRCm39)	K403E	unknown	Het
Rgs20	T	G	1: 4,994,190 (GRCm39)	E31A	possibly damaging	Het
Rpl11	A	T	4: 135,780,000 (GRCm39)	M12K	possibly damaging	Het
Rreb1	C	A	13: 38,115,644 (GRCm39)	T1001K	probably benign	Het
Ruvbl1	A	G	6: 88,474,355 (GRCm39)	K453E	probably benign	Het
Sdc4	A	T	2: 164,270,959 (GRCm39)	V100D	probably benign	Het
Simc1	C	A	13: 54,672,147 (GRCm39)	T165K	probably benign	Het
Slc2a3	A	G	6: 122,717,408 (GRCm39)	V16A	probably benign	Het
Smbd1	A	T	16: 32,627,130 (GRCm39)	S53T	possibly damaging	Het
Smndc1	A	T	19: 53,372,074 (GRCm39)	N113K	possibly damaging	Het
Tas2r139	T	G	6: 42,118,168 (GRCm39)	F100C	probably damaging	Het
Tubgcp5	A	G	7: 55,467,106 (GRCm39)	Y692C	probably damaging	Het
Ube2d2a	T	C	18: 35,933,197 (GRCm39)	I78T	probably benign	Het
Ugt2b37	C	T	5: 87,401,996 (GRCm39)	V212I	probably benign	Het
Wars2	A	G	3: 99,124,063 (GRCm39)	D308G	possibly damaging	Het
Yeats2	G	A	16: 20,030,500 (GRCm39)		probably null	Het
Zfp385a	G	T	15: 103,224,318 (GRCm39)	H219N	possibly damaging	Het
Zfp407	T	C	18: 84,227,982 (GRCm39)	T1876A	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
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
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'- CAGGCAGTGGGACTTACTTC -3'
(R):5'- GCTCCAAAAGTAAAGATCGCAG -3'

Sequencing Primer
(F):5'- TCTTCATAAGGACTCATAGGGATGCG -3'
(R):5'- GTAAAGATCGCAGACCACCTTTG -3'

Posted On

2021-12-30