Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Hars1'

517970

Institutional Source

Beutler Lab

Gene Symbol

Hars1

Ensembl Gene

ENSMUSG00000001380

Gene Name

histidyl-tRNA synthetase 1

Synonyms

Hars, MMHRS

MMRRC Submission

044558-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36899581-36916258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36906643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 109 (E109G)

Ref Sequence

ENSEMBL: ENSMUSP00000001416 (fasta)

Gene Model

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

AlphaFold

Q61035

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001416
AA Change: E109G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: E109G

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,504,779 (GRCm39)	R6L	unknown	Het
Anxa11	A	G	14: 25,874,694 (GRCm39)	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,199,065 (GRCm39)	M1K	probably null	Het
Atl2	G	A	17: 80,157,652 (GRCm39)	T563I	probably benign	Het
Azin1	A	T	15: 38,492,587 (GRCm39)	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,157,077 (GRCm39)	T118A	probably benign	Het
Chac1	G	A	2: 119,184,015 (GRCm39)	V206I	probably damaging	Het
Chrm3	A	G	13: 9,927,698 (GRCm39)	V446A	probably benign	Het
Cped1	T	C	6: 22,123,648 (GRCm39)	F467S	probably damaging	Het
Csmd3	G	A	15: 48,536,956 (GRCm39)	P82L	probably damaging	Het
Ddx60	T	A	8: 62,430,984 (GRCm39)	S840T	probably benign	Het
Ddx60	C	T	8: 62,451,715 (GRCm39)	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,984,609 (GRCm39)	N3102K	probably benign	Het
Dst	A	T	1: 34,155,209 (GRCm39)	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,785 (GRCm39)	I839M	probably benign	Het
Fam184b	T	A	5: 45,694,995 (GRCm39)	M750L	probably benign	Het
Frem2	T	C	3: 53,479,799 (GRCm39)	T1965A	probably benign	Het
Ftl1	A	T	7: 45,108,634 (GRCm39)	D41E	probably benign	Het
Garem2	G	A	5: 30,321,735 (GRCm39)	W698*	probably null	Het
Glt8d2	T	C	10: 82,488,740 (GRCm39)	Y283C	probably damaging	Het
Hspb9	T	C	11: 100,605,036 (GRCm39)	S121P	probably damaging	Het
Hus1b	A	T	13: 31,131,188 (GRCm39)	L157Q	probably damaging	Het
Hykk	A	G	9: 54,853,643 (GRCm39)	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Il17f	T	A	1: 20,848,131 (GRCm39)	M116L	probably benign	Het
Kif22	T	C	7: 126,628,104 (GRCm39)	K9E	possibly damaging	Het
Krt90	T	C	15: 101,467,679 (GRCm39)	E233G	probably benign	Het
Lipg	T	C	18: 75,090,307 (GRCm39)	M81V	probably benign	Het
Mocos	C	T	18: 24,834,513 (GRCm39)	S850L	probably damaging	Het
Mug2	T	A	6: 122,059,713 (GRCm39)	S1364T	probably damaging	Het
Neb	A	T	2: 52,075,340 (GRCm39)	N208K	probably benign	Het
Oca2	G	T	7: 55,978,515 (GRCm39)	R561L	probably benign	Het
Olfm5	A	G	7: 103,803,260 (GRCm39)	L401P	probably damaging	Het
Or12d17	T	A	17: 37,777,971 (GRCm39)	Y291*	probably null	Het
Or2t49	T	C	11: 58,393,166 (GRCm39)	D72G	probably damaging	Het
Or4a39	C	A	2: 89,236,866 (GRCm39)	A186S	possibly damaging	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8g33	T	A	9: 39,338,187 (GRCm39)	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,259,860 (GRCm39)	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,145,222 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,176,186 (GRCm39)	I418V	probably benign	Het
Pih1d2	T	C	9: 50,529,909 (GRCm39)	V62A	probably benign	Het
Pkib	T	A	10: 57,604,234 (GRCm39)	V46E	probably damaging	Het
Pum1	A	G	4: 130,455,598 (GRCm39)		probably null	Het
Rbak	G	T	5: 143,162,307 (GRCm39)	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,781,959 (GRCm39)	T32A	probably damaging	Het
Shprh	T	C	10: 11,043,617 (GRCm39)	W835R	probably damaging	Het
Sis	T	G	3: 72,819,187 (GRCm39)	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,327,588 (GRCm39)	N675I	probably benign	Het
Slc8a3	C	A	12: 81,362,401 (GRCm39)	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,791,198 (GRCm39)	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,621,669 (GRCm39)	I96N	probably damaging	Het
Stx19	T	C	16: 62,642,420 (GRCm39)	S79P	probably damaging	Het
Tecta	C	T	9: 42,286,563 (GRCm39)	V698M	probably damaging	Het
Timm22	T	C	11: 76,301,965 (GRCm39)	S150P	probably damaging	Het
Tjp1	C	T	7: 64,962,953 (GRCm39)	D995N	possibly damaging	Het
Tmem135	T	A	7: 88,797,002 (GRCm39)	T365S	probably benign	Het
Tmem174	T	C	13: 98,773,489 (GRCm39)	T114A	probably benign	Het
Tnc	A	G	4: 63,926,053 (GRCm39)	I909T	probably benign	Het
Trcg1	A	G	9: 57,148,613 (GRCm39)	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,575,005 (GRCm39)	*487K	probably null	Het
Unc79	T	A	12: 103,097,905 (GRCm39)	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,321,982 (GRCm39)	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,614,697 (GRCm39)	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,689,861 (GRCm39)	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,975,378 (GRCm39)	V194G	probably damaging	Het
Zfp260	A	T	7: 29,804,235 (GRCm39)	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,505,016 (GRCm39)	H292L	possibly damaging	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
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
R8828:Hars1	UTSW	18	36,899,996 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GTCAGTGGCTTCATATTTAATCTTACC -3'
(R):5'- TGAAATTAGTCACGTTGGAGTAGTAAG -3'

Sequencing Primer
(F):5'- CTGTGCCTGCTGTCCCTAAAAC -3'
(R):5'- CTTAGTGATAGAGGAATTGCCCACC -3'

Posted On

2018-05-24