Incidental Mutation 'IGL01154:Tgs1'
ID51003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgs1
Ensembl Gene ENSMUSG00000028233
Gene Nametrimethylguanosine synthase 1
SynonymsNcoa6ip, Pimt, D4Ertd800e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01154
Quality Score
Status
Chromosome4
Chromosomal Location3574875-3616619 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 3585473 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 117 (K117*)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
Predicted Effect probably null
Transcript: ENSMUST00000052712
AA Change: K117*
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: K117*

DomainStartEndE-ValueType
low complexity region 113 130 N/A INTRINSIC
low complexity region 145 159 N/A INTRINSIC
low complexity region 611 624 N/A INTRINSIC
Pfam:Met_10 661 798 3.4e-8 PFAM
Pfam:UPF0020 667 761 4.7e-7 PFAM
Pfam:Methyltransf_18 682 819 3.7e-9 PFAM
Pfam:Methyltransf_31 683 811 4.2e-10 PFAM
Pfam:Methyltransf_15 683 837 9.1e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132518
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display complete lethality around implantation with embryonic growth arrest, impaired hatching from the zona pellucida, and increased apoptosis. Null MEFs display G2 arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Tgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Tgs1 APN 4 3591292 missense possibly damaging 0.93
IGL01554:Tgs1 APN 4 3593632 missense probably null 0.68
IGL01613:Tgs1 APN 4 3585183 missense possibly damaging 0.92
IGL02117:Tgs1 APN 4 3585836 missense probably damaging 1.00
IGL02259:Tgs1 APN 4 3604743 missense probably damaging 0.96
IGL02697:Tgs1 APN 4 3585564 missense probably benign 0.01
IGL02814:Tgs1 APN 4 3585719 missense probably damaging 1.00
IGL02962:Tgs1 APN 4 3586181 missense probably benign 0.04
IGL03223:Tgs1 APN 4 3591322 splice site probably benign
IGL03340:Tgs1 APN 4 3604813 missense probably benign 0.44
K2124:Tgs1 UTSW 4 3595547 missense probably benign 0.00
R0189:Tgs1 UTSW 4 3593620 missense probably benign 0.08
R0708:Tgs1 UTSW 4 3586152 missense probably benign 0.07
R1029:Tgs1 UTSW 4 3593471 missense probably damaging 0.98
R1446:Tgs1 UTSW 4 3604848 missense probably damaging 1.00
R1623:Tgs1 UTSW 4 3585964 missense probably benign
R1711:Tgs1 UTSW 4 3598658 missense probably damaging 1.00
R1889:Tgs1 UTSW 4 3614928 missense probably benign 0.31
R2911:Tgs1 UTSW 4 3585616 missense probably benign 0.00
R3695:Tgs1 UTSW 4 3604949 splice site probably null
R4615:Tgs1 UTSW 4 3585156 missense probably damaging 1.00
R5460:Tgs1 UTSW 4 3586170 missense probably benign
R6088:Tgs1 UTSW 4 3595383 missense probably benign 0.06
R6442:Tgs1 UTSW 4 3604760 nonsense probably null
R7542:Tgs1 UTSW 4 3595439 missense probably benign 0.01
R7894:Tgs1 UTSW 4 3598652 missense probably benign 0.10
R7966:Tgs1 UTSW 4 3586215 missense probably benign 0.02
R7996:Tgs1 UTSW 4 3605842 missense probably damaging 1.00
R8202:Tgs1 UTSW 4 3586097 missense probably benign 0.01
R8298:Tgs1 UTSW 4 3605840 missense probably damaging 1.00
X0023:Tgs1 UTSW 4 3585912 missense probably benign 0.03
Posted On2013-06-21