Mutagenetix > Incidental Mutation

Incidental Mutation 'R9401:Aars1'

711225

Institutional Source

Beutler Lab

Gene Symbol

Aars1

Ensembl Gene

ENSMUSG00000031960

Gene Name

alanyl-tRNA synthetase 1

Synonyms

Aars

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9401 (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 111780785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 850 (D850G)

Ref Sequence

ENSEMBL: ENSMUSP00000034441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469] [ENSMUST00000210390]

AlphaFold

Q8BGQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000034441
AA Change: D850G

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: D850G

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: ENSMUST00000190778

SMART Domains

Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633

Domain	Start	End	E-Value	Type
low complexity region	59	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191030

SMART Domains

Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633

Domain	Start	End	E-Value	Type
low complexity region	59	80	N/A	INTRINSIC
SCP	100	248	5.76e-19	SMART
EGF	282	319	5.32e-1	SMART
EGF_like	321	350	4.83e1	SMART
CLECT	355	491	4.65e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191469

SMART Domains

Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
SCP	130	278	5.76e-19	SMART
EGF	312	349	5.32e-1	SMART
EGF_like	351	380	4.83e1	SMART
CLECT	385	521	4.65e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210390

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,543,836 (GRCm39)	T1480S	possibly damaging	Het
Adgrb3	C	A	1: 25,592,783 (GRCm39)	V335F	probably damaging	Het
Agfg1	C	A	1: 82,859,958 (GRCm39)	A275D	probably benign	Het
Alms1	T	A	6: 85,655,001 (GRCm39)	C2713*	probably null	Het
Atp8a1	G	A	5: 67,906,492 (GRCm39)	A474V		Het
Baz1a	C	A	12: 54,963,339 (GRCm39)	S918I	probably damaging	Het
Bcl2l12	G	T	7: 44,643,674 (GRCm39)	T120K	possibly damaging	Het
Bcl6	G	T	16: 23,791,107 (GRCm39)	Q416K	possibly damaging	Het
Cdhr1	T	A	14: 36,820,055 (GRCm39)	I16F	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cilp	T	C	9: 65,185,381 (GRCm39)	V492A	probably damaging	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Crppa	T	C	12: 36,552,073 (GRCm39)	V309A	probably benign	Het
Ctcfl	T	G	2: 172,947,881 (GRCm39)	T479P	probably damaging	Het
Dlx6	A	C	6: 6,863,581 (GRCm39)	M68L	probably benign	Het
Dnah7a	C	A	1: 53,568,026 (GRCm39)	V1857F	probably benign	Het
Dpy19l4	A	G	4: 11,265,806 (GRCm39)	V714A	probably benign	Het
Elovl7	T	A	13: 108,419,188 (GRCm39)	N273K	probably benign	Het
Fbxo22	A	G	9: 55,130,628 (GRCm39)	K299R	probably benign	Het
Fig4	A	G	10: 41,143,733 (GRCm39)	V242A	probably benign	Het
Fmo9	A	T	1: 166,505,189 (GRCm39)	M68K	probably damaging	Het
Fry	T	A	5: 150,302,403 (GRCm39)	Y537N	probably damaging	Het
Fryl	C	T	5: 73,222,563 (GRCm39)	W2006*	probably null	Het
Fzd8	T	A	18: 9,213,205 (GRCm39)	C96S	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,050,535 (GRCm39)	D272G	possibly damaging	Het
Gzmf	A	T	14: 56,448,813 (GRCm39)	M1K	probably null	Het
Hipk1	T	C	3: 103,685,295 (GRCm39)	T107A	probably benign	Het
Hsd3b9	T	G	3: 98,363,819 (GRCm39)	T9P	probably damaging	Het
Ighe	C	T	12: 113,233,107 (GRCm39)	C438Y		Het
Igkv4-50	T	A	6: 69,677,967 (GRCm39)	R46W		Het
Igsf3	T	A	3: 101,333,075 (GRCm39)	Y118N	probably damaging	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Jph3	A	G	8: 122,511,854 (GRCm39)	E614G	probably damaging	Het
Klk1b8	T	A	7: 43,603,674 (GRCm39)	D170E	probably benign	Het
Ly6e	A	T	15: 74,830,153 (GRCm39)	K36*	probably null	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Med13l	T	A	5: 118,883,089 (GRCm39)	M1316K	probably benign	Het
Or5c1	T	C	2: 37,222,293 (GRCm39)	V178A	possibly damaging	Het
Or6c76b	A	G	10: 129,693,298 (GRCm39)	R304G	probably benign	Het
Or8u3-ps	A	T	2: 85,952,368 (GRCm39)	I34F	possibly damaging	Het
Pih1d2	T	A	9: 50,529,905 (GRCm39)	C45S	probably damaging	Het
Pik3r2	G	A	8: 71,223,737 (GRCm39)	S318L	possibly damaging	Het
Pknox1	T	C	17: 31,802,752 (GRCm39)	I9T	probably benign	Het
Pknox2	T	C	9: 36,835,041 (GRCm39)	I143V	probably damaging	Het
Polr1d	A	G	5: 147,015,488 (GRCm39)	Y57C	probably damaging	Het
Pum3	A	T	19: 27,376,336 (GRCm39)	D527E	probably benign	Het
Rars2	T	A	4: 34,654,819 (GRCm39)	H374Q	probably damaging	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rbl1	T	A	2: 157,016,742 (GRCm39)	H619L	possibly damaging	Het
Scamp4	T	C	10: 80,448,238 (GRCm39)	V153A	probably benign	Het
Sec23b	T	G	2: 144,420,286 (GRCm39)	I450S	probably benign	Het
Slc35b2	A	G	17: 45,877,910 (GRCm39)	I297V	probably benign	Het
Slc4a4	C	T	5: 89,327,525 (GRCm39)	T654I	probably damaging	Het
Slc6a5	T	A	7: 49,601,185 (GRCm39)	M662K	probably damaging	Het
Smarcad1	T	C	6: 65,071,321 (GRCm39)	Y589H	probably benign	Het
Spata31d1e	T	C	13: 59,890,012 (GRCm39)	T603A	probably benign	Het
Stab1	A	T	14: 30,883,069 (GRCm39)	F374I	probably benign	Het
Stat5a	C	T	11: 100,756,254 (GRCm39)	T158M	possibly damaging	Het
Trpc3	A	T	3: 36,675,503 (GRCm39)	Y878*	probably null	Het
Ubr1	T	A	2: 120,765,765 (GRCm39)	T491S	probably benign	Het
Uggt1	C	T	1: 36,255,212 (GRCm39)		probably null	Het
Ugt1a6a	T	A	1: 88,066,882 (GRCm39)	Y229*	probably null	Het
Vmn1r225	G	A	17: 20,722,911 (GRCm39)	W117*	probably null	Het
Vmn1r225	A	C	17: 20,722,912 (GRCm39)	K118Q	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r116	T	C	17: 23,620,566 (GRCm39)	S767P	probably damaging	Het
Wdr90	AGAC	AGACGAC	17: 26,064,750 (GRCm39)		probably benign	Het
Ythdf3	C	T	3: 16,258,659 (GRCm39)	P280S	probably damaging	Het
Zbbx	A	G	3: 75,019,390 (GRCm39)	S107P	probably benign	Het
Zdhhc7	A	T	8: 120,813,425 (GRCm39)	V128E	probably benign	Het
Zfp235	A	G	7: 23,841,551 (GRCm39)	S657G	probably damaging	Het
Zfp442	T	A	2: 150,251,615 (GRCm39)	I96F	possibly damaging	Het
Zfp84	G	A	7: 29,476,297 (GRCm39)	E330K	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
R9087:Aars1	UTSW	8	111,768,169 (GRCm39)	missense	probably damaging	1.00
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'- CAAAGCCGATGTGCAGAAGC -3'
(R):5'- CCATCCCATTTCCAGCAGATG -3'

Sequencing Primer
(F):5'- CGAGTAAGGCTTGGCAGTGC -3'
(R):5'- AGATGCTGTTCCCAGGAGC -3'

Posted On

2022-05-16