Incidental Mutation 'IGL00470:Tarsl2'
ID 5231
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
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL00470
Quality Score
Status
Chromosome 7
Chromosomal Location 65644898-65692091 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65688908 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 689 (M689T)
Ref Sequence ENSEMBL: ENSMUSP00000032728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032726] [ENSMUST00000032728] [ENSMUST00000065574] [ENSMUST00000107495] [ENSMUST00000129166] [ENSMUST00000143508] [ENSMUST00000206517] [ENSMUST00000206628] [ENSMUST00000206934]
AlphaFold Q8BLY2
Predicted Effect probably benign
Transcript: ENSMUST00000032726
SMART Domains Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 165 214 5.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032728
AA Change: M689T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: M689T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,773,003 S416T probably damaging Het
4732463B04Rik G T 12: 84,043,804 probably benign Het
4921501E09Rik T A 17: 33,065,863 H655L probably benign Het
Abcd1 T C X: 73,717,548 L173P probably damaging Het
Adam18 T A 8: 24,628,133 D41V probably damaging Het
Aspa T G 11: 73,313,621 probably benign Het
C530008M17Rik G A 5: 76,866,056 probably benign Het
Cacna2d1 T A 5: 16,246,656 probably benign Het
Cubn T A 2: 13,278,418 I3570L probably benign Het
Cyp2j13 G A 4: 96,062,038 P242L probably damaging Het
Cysrt1 T C 2: 25,239,501 probably benign Het
Dchs1 A T 7: 105,758,207 L2100H probably damaging Het
Ddb1 G A 19: 10,611,664 A229T possibly damaging Het
Dst A T 1: 34,188,962 I1554F probably damaging Het
Dvl3 C T 16: 20,530,939 P554L probably damaging Het
Fcgbp C A 7: 28,075,086 C28* probably null Het
Gm773 T C X: 56,202,013 D53G probably benign Het
Hhat A G 1: 192,717,017 Y272H probably damaging Het
Inpp5k T C 11: 75,645,525 S310P probably benign Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Kcnh5 T C 12: 74,897,796 D893G probably benign Het
Lama2 T C 10: 27,243,742 T709A probably benign Het
Mcm8 G A 2: 132,827,537 V281I probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Nup133 T G 8: 123,939,083 D201A probably damaging Het
Oxct2a A G 4: 123,323,390 L66P possibly damaging Het
Pcbp2 C T 15: 102,490,713 A224V probably damaging Het
Pla2g4e G A 2: 120,185,238 S275F probably benign Het
Pxk T C 14: 8,130,754 F118L probably damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Sphkap A G 1: 83,277,910 M706T possibly damaging Het
Trrap T C 5: 144,818,038 V2008A probably damaging Het
Txndc2 A T 17: 65,638,574 S203T probably benign Het
Txnrd1 T G 10: 82,875,662 D42E probably damaging Het
Zswim8 G A 14: 20,723,181 D1746N probably damaging Het
Other mutations in Tarsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Tarsl2 APN 7 65652259 critical splice acceptor site probably null
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
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 2012-04-20