Mutagenetix > Incidental Mutation

Incidental Mutation 'R8828:Hars1'

673645

Institutional Source

Beutler Lab

Gene Symbol

Hars1

Ensembl Gene

ENSMUSG00000001380

Gene Name

histidyl-tRNA synthetase 1

Synonyms

Hars, MMHRS

MMRRC Submission

068730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36899581-36916258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36899996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 490 (R490L)

Ref Sequence

ENSEMBL: ENSMUSP00000001416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000049323] [ENSMUST00000061522]

AlphaFold

Q61035

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001416
AA Change: R490L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: R490L

Domain	Start	End	E-Value	Type
WHEP-TRS	7	60	5.37e-11	SMART
Pfam:tRNA-synt_His	61	389	1.9e-41	PFAM
Pfam:HGTP_anticodon2	404	507	3.3e-12	PFAM
Pfam:HGTP_anticodon	410	501	4.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049323

SMART Domains

Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
WD40	31	67	4.6e0	SMART
WD40	74	113	1.12e-2	SMART
WD40	116	155	2.4e-2	SMART
WD40	158	197	2.76e-2	SMART
WD40	202	239	1.72e0	SMART
WD40	284	324	2.01e-4	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061522

SMART Domains

Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
RRM	59	132	2.49e-10	SMART
RRM	139	214	3.01e-1	SMART
Pfam:DND1_DSRM	253	333	1.1e-27	PFAM

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.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit deafness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,507,455 (GRCm39)	Y1091F	probably damaging	Het
Arl8b	A	G	6: 108,792,250 (GRCm39)	I104V	probably benign	Het
Asb2	C	A	12: 103,304,457 (GRCm39)	G16C	probably benign	Het
Bptf	T	C	11: 106,945,836 (GRCm39)	S2468G	probably damaging	Het
Capns1	T	A	7: 29,889,963 (GRCm39)	D182V	probably damaging	Het
Cct5	T	C	15: 31,594,658 (GRCm39)	H182R	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Chd3	C	T	11: 69,247,097 (GRCm39)	V1024I	probably damaging	Het
Chd8	CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG	C	14: 52,448,037 (GRCm39)		probably null	Het
Csmd1	T	C	8: 16,048,794 (GRCm39)	S2303G	probably benign	Het
Ctsl	A	G	13: 64,514,314 (GRCm39)	S255P	probably damaging	Het
Dclre1c	T	G	2: 3,444,714 (GRCm39)	N268K	possibly damaging	Het
Dock10	T	C	1: 80,521,134 (GRCm39)	D1158G	probably damaging	Het
Dock6	A	T	9: 21,757,797 (GRCm39)	D102E	probably benign	Het
Dvl3	T	A	16: 20,344,495 (GRCm39)	D290E	probably damaging	Het
Fam72a	T	A	1: 131,458,461 (GRCm39)	C74*	probably null	Het
Gnrh1	T	A	14: 67,985,334 (GRCm39)	L73Q	probably damaging	Het
Grina	T	A	15: 76,132,497 (GRCm39)	S115T	probably damaging	Het
Grm3	A	T	5: 9,554,725 (GRCm39)	S856T	probably benign	Het
Ide	T	A	19: 37,292,241 (GRCm39)	K318I		Het
Immt	C	A	6: 71,829,762 (GRCm39)	S156*	probably null	Het
Iqcd	A	G	5: 120,738,232 (GRCm39)	I17V	possibly damaging	Het
Klhdc1	T	C	12: 69,298,808 (GRCm39)	V131A	probably damaging	Het
Klk6	C	A	7: 43,478,061 (GRCm39)	N144K		Het
Klk6	T	C	7: 43,478,062 (GRCm39)	C145R	probably damaging	Het
Lrfn2	A	T	17: 49,404,132 (GRCm39)	T752S	probably damaging	Het
Lrguk	A	C	6: 34,080,572 (GRCm39)	Q1269P	unknown	Het
Lrwd1	G	T	5: 136,164,787 (GRCm39)	Q7K	probably benign	Het
Macf1	A	T	4: 123,302,204 (GRCm39)	M766K	probably benign	Het
Myo3a	A	T	2: 22,245,864 (GRCm39)	T4S	probably benign	Het
Neb	T	C	2: 52,084,438 (GRCm39)	Y5587C	probably damaging	Het
Nf1	A	T	11: 79,286,679 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,131,823 (GRCm39)	R344S	probably damaging	Het
Nudt16l2	C	T	9: 105,021,648 (GRCm39)	D133N	probably damaging	Het
Or52p1	A	T	7: 104,267,486 (GRCm39)	Y200F	probably damaging	Het
Or5v1b	A	G	17: 37,841,333 (GRCm39)	N155S	probably damaging	Het
Pcnx1	T	A	12: 82,042,597 (GRCm39)	W2286R	probably damaging	Het
Ppm1g	A	T	5: 31,365,768 (GRCm39)	N51K	probably benign	Het
Ppp1r13b	T	C	12: 111,799,981 (GRCm39)	K722E	probably damaging	Het
Prim1	A	G	10: 127,859,761 (GRCm39)	S318G	probably damaging	Het
Prl4a1	T	C	13: 28,207,307 (GRCm39)	Y194H	probably damaging	Het
Prl7c1	A	T	13: 27,957,854 (GRCm39)	D195E	probably benign	Het
Psmb2	A	G	4: 126,603,330 (GRCm39)	D186G	probably benign	Het
Ptprq	A	G	10: 107,482,513 (GRCm39)	V1020A	probably benign	Het
Scgb2b20	T	C	7: 33,065,689 (GRCm39)	T13A	unknown	Het
Scly	C	A	1: 91,244,830 (GRCm39)	H310Q	possibly damaging	Het
Sdccag8	G	A	1: 176,783,473 (GRCm39)	E661K	probably damaging	Het
Sema4f	G	A	6: 82,894,873 (GRCm39)	L441F	probably benign	Het
Sema4f	A	C	6: 82,894,874 (GRCm39)	Y440*	probably null	Het
Tmem262	C	T	19: 6,130,118 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,236,392 (GRCm39)	T501A	probably damaging	Het
Trio	C	A	15: 27,741,150 (GRCm39)	V2692F	possibly damaging	Het
Ttn	A	T	2: 76,772,774 (GRCm39)	V2453E	unknown	Het
Ttn	G	T	2: 76,541,956 (GRCm39)	R33677S	probably benign	Het
Uaca	T	A	9: 60,778,852 (GRCm39)	S1080T	probably benign	Het
Vav3	T	A	3: 109,555,051 (GRCm39)	C660S	probably benign	Het
Vmn1r229	T	A	17: 21,034,990 (GRCm39)	D78E	probably damaging	Het
Vmn2r73	A	G	7: 85,521,179 (GRCm39)	V263A	probably damaging	Het
Yeats2	A	T	16: 19,969,260 (GRCm39)	D17V	probably benign	Het
Zfp658	T	A	7: 43,222,240 (GRCm39)	W172R	probably benign	Het
Zfp804a	A	C	2: 82,089,459 (GRCm39)	H1096P	possibly damaging	Het
Zkscan14	C	T	5: 145,138,375 (GRCm39)	W37*	probably null	Het
Zmynd15	A	T	11: 70,355,017 (GRCm39)	D468V	probably damaging	Het
Zmynd8	A	T	2: 165,654,466 (GRCm39)	V682E	probably benign	Het

Other mutations in Hars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Hars1	APN	18	36,901,225 (GRCm39)	missense	probably damaging	1.00
IGL01993:Hars1	APN	18	36,903,265 (GRCm39)	missense	probably damaging	1.00
IGL03079:Hars1	APN	18	36,903,556 (GRCm39)	missense	probably damaging	1.00
P0040:Hars1	UTSW	18	36,906,628 (GRCm39)	missense	probably damaging	0.99
R0542:Hars1	UTSW	18	36,904,234 (GRCm39)	missense	probably benign	0.23
R0630:Hars1	UTSW	18	36,904,442 (GRCm39)	missense	probably damaging	1.00
R1171:Hars1	UTSW	18	36,904,467 (GRCm39)	missense	possibly damaging	0.81
R1711:Hars1	UTSW	18	36,904,156 (GRCm39)	missense	probably damaging	1.00
R1744:Hars1	UTSW	18	36,903,885 (GRCm39)	missense	probably benign	0.00
R1873:Hars1	UTSW	18	36,900,294 (GRCm39)	missense	probably damaging	0.99
R3907:Hars1	UTSW	18	36,915,769 (GRCm39)	missense	probably benign	0.00
R5193:Hars1	UTSW	18	36,900,358 (GRCm39)	missense	possibly damaging	0.94
R5688:Hars1	UTSW	18	36,905,369 (GRCm39)	missense	probably damaging	1.00
R6331:Hars1	UTSW	18	36,904,385 (GRCm39)	missense	probably benign	0.19
R6349:Hars1	UTSW	18	36,916,107 (GRCm39)	missense	probably benign	0.00
R6416:Hars1	UTSW	18	36,906,643 (GRCm39)	missense	possibly damaging	0.95
R7075:Hars1	UTSW	18	36,905,408 (GRCm39)	missense	possibly damaging	0.87
R7209:Hars1	UTSW	18	36,906,593 (GRCm39)	missense	probably benign	0.14
R7409:Hars1	UTSW	18	36,903,166 (GRCm39)	missense	probably damaging	1.00
R7538:Hars1	UTSW	18	36,904,194 (GRCm39)	missense	probably benign	0.00
R7621:Hars1	UTSW	18	36,903,476 (GRCm39)	missense	probably benign
R7764:Hars1	UTSW	18	36,903,237 (GRCm39)	missense	probably damaging	1.00
R8401:Hars1	UTSW	18	36,904,243 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- ATCCCCGACAGTGTAGTACCTG -3'
(R):5'- CCGAGGGCTTAGGCTTTAAC -3'

Sequencing Primer
(F):5'- ACAGTGTAGTACCTGGCCATTG -3'
(R):5'- GCTTAGGCTTTAACTATAATTGTGGC -3'

Posted On

2021-07-15