Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Hars1'

310278

Institutional Source

Beutler Lab

Gene Symbol

Hars1

Ensembl Gene

ENSMUSG00000001380

Gene Name

histidyl-tRNA synthetase 1

Synonyms

Hars, MMHRS

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36899581-36916258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36915769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 48 (D48E)

Ref Sequence

ENSEMBL: ENSMUSP00000001416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000019287] [ENSMUST00000152954]

AlphaFold

Q61035

Predicted Effect

probably benign
Transcript: ENSMUST00000001416
AA Change: D48E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380
AA Change: D48E

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: ENSMUST00000019287

SMART Domains

Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:tRNA-synt_His	61	313	1.3e-23	PFAM
Pfam:tRNA-synt_2b	72	234	2.8e-21	PFAM
Pfam:HGTP_anticodon2	324	424	2.7e-8	PFAM
Pfam:HGTP_anticodon	329	420	2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145876

Predicted Effect

probably benign
Transcript: ENSMUST00000152954

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:tRNA-synt_His	61	389	1e-38	PFAM
Pfam:HGTP_anticodon	410	501	1.8e-16	PFAM

Meta Mutation Damage Score

0.0826

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Car4	G	A	11: 84,855,183 (GRCm39)	V141M	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Chrm4	C	T	2: 91,758,084 (GRCm39)	A164V	probably damaging	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
E130308A19Rik	C	T	4: 59,752,393 (GRCm39)	T502I	probably benign	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Krt16	A	G	11: 100,137,989 (GRCm39)	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or4c117	A	C	2: 88,955,927 (GRCm39)	Y49*	probably null	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Trip4	A	G	9: 65,740,708 (GRCm39)	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		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
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
R8828:Hars1	UTSW	18	36,899,996 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ATCACTGCCATCGCCGAATG -3'
(R):5'- CATAGAAGGTGATCTGGCTGG -3'

Sequencing Primer
(F):5'- ATCGCCGAATGACTCAGGTTG -3'
(R):5'- CCAGGCTGGTAGAGTGAAC -3'

Posted On

2015-04-17