Mutagenetix > Incidental Mutation

Incidental Mutation 'R7764:Hars1'

598151

Institutional Source

Beutler Lab

Gene Symbol

Hars1

Ensembl Gene

ENSMUSG00000001380

Gene Name

histidyl-tRNA synthetase 1

Synonyms

Hars, MMHRS

MMRRC Submission

045820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36899581-36916258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36903237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 364 (D364E)

Ref Sequence

ENSEMBL: ENSMUSP00000001416 (fasta)

Gene Model

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

AlphaFold

Q61035

Predicted Effect

probably damaging
Transcript: ENSMUST00000001416
AA Change: D364E

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

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: D364E

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: 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: 100.0%
10x: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,368,040 (GRCm39)	L93V	probably benign	Het
Adss2	A	C	1: 177,591,827 (GRCm39)	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,971,563 (GRCm39)	K102*	probably null	Het
Ccdc162	A	T	10: 41,566,109 (GRCm39)	V78D	possibly damaging	Het
Ccr3	T	C	9: 123,829,451 (GRCm39)	V262A	probably benign	Het
Cdk13	A	T	13: 17,895,890 (GRCm39)		probably null	Het
Cdyl	A	T	13: 36,000,126 (GRCm39)	T136S	possibly damaging	Het
Chd2	T	C	7: 73,121,567 (GRCm39)	D1015G	probably null	Het
Cntn2	C	A	1: 132,450,101 (GRCm39)	A598S	probably benign	Het
Cxxc4	G	T	3: 133,945,856 (GRCm39)	G146C	unknown	Het
Dnah2	G	A	11: 69,348,984 (GRCm39)	T2501I	probably benign	Het
Dock8	T	A	19: 25,074,899 (GRCm39)	I471N	probably benign	Het
Eaf2	A	G	16: 36,645,045 (GRCm39)	V59A	probably damaging	Het
Egflam	T	A	15: 7,347,736 (GRCm39)	I65F	probably damaging	Het
Exoc3l	A	G	8: 106,017,333 (GRCm39)	V577A	possibly damaging	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fosb	T	C	7: 19,038,971 (GRCm39)	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,272,891 (GRCm39)	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,811,252 (GRCm39)	S2524P	possibly damaging	Het
Gbp3	A	G	3: 142,271,024 (GRCm39)	T143A	probably benign	Het
Grk2	A	T	19: 4,337,391 (GRCm39)	L632Q	probably damaging	Het
Hsd17b4	G	T	18: 50,279,482 (GRCm39)	G154*	probably null	Het
Kif5c	T	C	2: 49,617,973 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,639,339 (GRCm39)	L800P	probably damaging	Het
Krt19	T	C	11: 100,032,218 (GRCm39)	N282S	probably benign	Het
Med23	T	G	10: 24,785,818 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,699,085 (GRCm39)	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842 (GRCm39)	S1106P	probably damaging	Het
Mprip	A	G	11: 59,655,242 (GRCm39)	T733A	probably damaging	Het
Mul1	G	A	4: 138,162,080 (GRCm39)	G4S	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk	G	T	16: 34,742,553 (GRCm39)	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,454 (GRCm39)	N75K	probably damaging	Het
Nfib	A	G	4: 82,238,731 (GRCm39)	S492P	possibly damaging	Het
Notch2	A	T	3: 98,050,304 (GRCm39)	I1860F	probably damaging	Het
Or9i14	A	G	19: 13,792,111 (GRCm39)	I281T	probably benign	Het
Oxr1	T	C	15: 41,683,263 (GRCm39)	S298P	probably benign	Het
Pcnt	T	C	10: 76,190,082 (GRCm39)	D2818G	probably benign	Het
Pmpcb	G	A	5: 21,948,450 (GRCm39)	A244T	probably damaging	Het
Poln	A	G	5: 34,274,151 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,930,054 (GRCm39)	V914M	probably damaging	Het
Rab15	A	C	12: 76,851,215 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,876,747 (GRCm39)	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,229,134 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,613 (GRCm39)	G15W	probably damaging	Het
Scrib	T	C	15: 75,919,242 (GRCm39)	*1666W	probably null	Het
Setd1b	G	C	5: 123,284,622 (GRCm39)	R184P	unknown	Het
Sfxn2	A	T	19: 46,574,179 (GRCm39)	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,677,383 (GRCm39)	W262R	probably damaging	Het
Slc38a10	A	G	11: 119,995,905 (GRCm39)	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,181,416 (GRCm39)	S1077R	possibly damaging	Het
Them7	G	T	2: 105,128,171 (GRCm39)	E51*	probably null	Het
Ubc	A	G	5: 125,465,133 (GRCm39)	S65P	possibly damaging	Het
Ubqln3	A	T	7: 103,790,443 (GRCm39)	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,529 (GRCm39)	L228P	probably damaging	Het
Vmn2r60	A	G	7: 41,844,535 (GRCm39)	T633A	probably damaging	Het
Zfp382	T	C	7: 29,832,700 (GRCm39)	V117A	probably benign	Het
Zic1	C	T	9: 91,247,745 (GRCm39)		probably benign	Het
Zmym4	A	T	4: 126,819,409 (GRCm39)	F165I	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
R8401:Hars1	UTSW	18	36,904,243 (GRCm39)	missense	possibly damaging	0.74
R8828:Hars1	UTSW	18	36,899,996 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCAGAGATGTTCCCTATCCAAAGC -3'
(R):5'- TGAAGTTGGAGATAGGAGCCCC -3'

Sequencing Primer
(F):5'- GATGTTCCCTATCCAAAGCAGTGC -3'
(R):5'- CAGCTGACCTCTGTGGCTTG -3'

Posted On

2019-11-26