Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Tarsl2'

290905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tarsl2

Ensembl Gene

ENSMUSG00000030515

Gene Name

threonyl-tRNA synthetase-like 2

Synonyms

A530046H20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

65644898-65692091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65661165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 314 (P314Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032728]

AlphaFold

Q8BLY2

Predicted Effect

probably benign
Transcript: ENSMUST00000032728
AA Change: P314Q

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: P314Q

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
coiled coil region	44	68	N/A	INTRINSIC
Pfam:TGS	151	210	8.8e-14	PFAM
tRNA_SAD	316	365	1.26e-16	SMART
Pfam:tRNA-synt_2b	464	675	2.2e-35	PFAM
Pfam:HGTP_anticodon	687	778	1.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206323

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,263,074	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140	N945D	probably benign	Het
Nfrkb	G	A	9: 31,389,012	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	Het

Other mutations in Tarsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Tarsl2	APN	7	65652259	critical splice acceptor site	probably null
IGL00470:Tarsl2	APN	7	65688908	missense	probably benign	0.03
IGL00594:Tarsl2	APN	7	65676132	critical splice donor site	probably null
IGL01352:Tarsl2	APN	7	65658910	missense	possibly damaging	0.80
IGL01519:Tarsl2	APN	7	65663886	missense	probably damaging	1.00
IGL01726:Tarsl2	APN	7	65682818	missense	possibly damaging	0.46
IGL02729:Tarsl2	APN	7	65682819	missense	probably damaging	0.97
IGL03234:Tarsl2	APN	7	65652278	missense	probably benign	0.06
gary	UTSW	7	65688952	critical splice donor site	probably null
R8254_tarsl2_650	UTSW	7	65676061	missense	probably benign
smart_money	UTSW	7	65678142	missense	probably damaging	1.00
R0127:Tarsl2	UTSW	7	65664969	missense	probably benign	0.19
R0153:Tarsl2	UTSW	7	65684081	missense	probably damaging	1.00
R0605:Tarsl2	UTSW	7	65678071	missense	probably damaging	1.00
R1070:Tarsl2	UTSW	7	65655696	missense	probably damaging	1.00
R1450:Tarsl2	UTSW	7	65647496	missense	probably benign	0.01
R1467:Tarsl2	UTSW	7	65655696	missense	probably damaging	1.00
R1467:Tarsl2	UTSW	7	65655696	missense	probably damaging	1.00
R2142:Tarsl2	UTSW	7	65658897	missense	probably benign
R2143:Tarsl2	UTSW	7	65655791	missense	possibly damaging	0.57
R2144:Tarsl2	UTSW	7	65655791	missense	possibly damaging	0.57
R2145:Tarsl2	UTSW	7	65655791	missense	possibly damaging	0.57
R2208:Tarsl2	UTSW	7	65682848	missense	probably damaging	1.00
R3713:Tarsl2	UTSW	7	65688952	critical splice donor site	probably null
R3715:Tarsl2	UTSW	7	65688952	critical splice donor site	probably null
R3914:Tarsl2	UTSW	7	65683808	missense	probably benign	0.05
R3929:Tarsl2	UTSW	7	65684043	splice site	probably null
R4008:Tarsl2	UTSW	7	65678128	missense	probably damaging	1.00
R4064:Tarsl2	UTSW	7	65652270	missense	possibly damaging	0.90
R4367:Tarsl2	UTSW	7	65682819	missense	probably damaging	0.97
R4652:Tarsl2	UTSW	7	65689969	missense	probably damaging	1.00
R4825:Tarsl2	UTSW	7	65647554	missense	probably benign	0.38
R4901:Tarsl2	UTSW	7	65691294	missense	probably benign	0.05
R4999:Tarsl2	UTSW	7	65658935	missense	probably damaging	0.99
R5423:Tarsl2	UTSW	7	65683819	missense	probably benign	0.00
R5756:Tarsl2	UTSW	7	65675976	missense	probably benign	0.22
R5772:Tarsl2	UTSW	7	65684125	missense	probably damaging	1.00
R6160:Tarsl2	UTSW	7	65682779	missense	probably benign	0.32
R6230:Tarsl2	UTSW	7	65686436	splice site	probably null
R6424:Tarsl2	UTSW	7	65655739	missense	probably damaging	1.00
R6615:Tarsl2	UTSW	7	65678142	missense	probably damaging	1.00
R6792:Tarsl2	UTSW	7	65662303	missense	probably damaging	1.00
R7350:Tarsl2	UTSW	7	65658924	missense	probably damaging	1.00
R7549:Tarsl2	UTSW	7	65647593	missense	probably damaging	0.96
R7592:Tarsl2	UTSW	7	65658871	missense	probably benign	0.01
R7634:Tarsl2	UTSW	7	65676012	missense	probably damaging	0.99
R7710:Tarsl2	UTSW	7	65664969	missense	probably benign	0.19
R7808:Tarsl2	UTSW	7	65652261	missense	probably benign	0.01
R7875:Tarsl2	UTSW	7	65678151	missense	probably benign	0.05
R8254:Tarsl2	UTSW	7	65676061	missense	probably benign
R8793:Tarsl2	UTSW	7	65644925	start gained	probably benign
R9162:Tarsl2	UTSW	7	65682770	missense	probably benign	0.01
R9200:Tarsl2	UTSW	7	65652265	missense	probably benign
R9461:Tarsl2	UTSW	7	65689971	missense	possibly damaging	0.68
R9533:Tarsl2	UTSW	7	65684060	critical splice acceptor site	probably null
Z1177:Tarsl2	UTSW	7	65652264	nonsense	probably null

Posted On

2015-04-16