Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Tarsl2'

259742

Institutional Source

Beutler Lab

Gene Symbol

Tarsl2

Ensembl Gene

ENSMUSG00000030515

Gene Name

threonyl-tRNA synthetase-like 2

Synonyms

A530046H20Rik

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65644898-65692091 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 65688952 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032726] [ENSMUST00000032728] [ENSMUST00000065574] [ENSMUST00000107495] [ENSMUST00000129166] [ENSMUST00000143508] [ENSMUST00000206517] [ENSMUST00000206628] [ENSMUST00000206934]

Predicted Effect

probably benign
Transcript: ENSMUST00000032726

SMART Domains

Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:TM2	165	214	5.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000032728

SMART Domains

Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515

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

probably benign
Transcript: ENSMUST00000065574

SMART Domains

Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:TM2	196	245	6.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107495

SMART Domains

Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:TM2	196	245	5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127354

Predicted Effect

probably benign
Transcript: ENSMUST00000129166

Predicted Effect

probably benign
Transcript: ENSMUST00000143508

SMART Domains

Protein: ENSMUSP00000116848
Gene: ENSMUSG00000078681

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206361

Predicted Effect

probably benign
Transcript: ENSMUST00000206517

Predicted Effect

probably benign
Transcript: ENSMUST00000206628

Predicted Effect

probably benign
Transcript: ENSMUST00000206837

Predicted Effect

probably benign
Transcript: ENSMUST00000206934

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	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
IGL02370:Tarsl2	APN	7	65661165	missense	probably benign	0.17
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
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
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
Z1177:Tarsl2	UTSW	7	65652264	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTACCACTGTCTCATGACTG -3'
(R):5'- GTGAGATGCTTGAAAACACCC -3'

Sequencing Primer
(F):5'- TGTCACCCTGAGAAAGCTCTG -3'
(R):5'- TTAAGGACACGGTTCTAACACAG -3'

Posted On

2015-01-23