Incidental Mutation 'IGL01063:Tgs1'
ID50831
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 #IGL01063
Quality Score
Status
Chromosome4
Chromosomal Location3574875-3616619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3591292 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 442 (F442I)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052712
AA Change: F442I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: F442I

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: ENSMUST00000129964
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
4930444P10Rik A T 1: 16,078,646 L61* probably null Het
Abca7 T C 10: 80,011,297 I1705T probably damaging Het
Ablim1 T A 19: 57,061,328 I393F probably damaging Het
Adamts5 A G 16: 85,899,834 L145P probably damaging Het
Ano6 T C 15: 95,948,429 I537T probably damaging Het
AU018091 T C 7: 3,162,313 I190V possibly damaging Het
Camk1 T A 6: 113,338,372 D155V probably damaging Het
Cdh6 A C 15: 13,064,495 I103S probably damaging Het
Cntnap1 A G 11: 101,181,788 D537G probably benign Het
Col6a3 T C 1: 90,802,332 K1144E probably damaging Het
Cpeb1 T A 7: 81,372,181 E71D probably benign Het
Cps1 T C 1: 67,195,166 L904P possibly damaging Het
Cyfip1 T A 7: 55,904,210 F700I probably damaging Het
Dmp1 G A 5: 104,207,099 M1I probably null Het
Efcab6 A T 15: 84,054,512 M1K probably null Het
Extl2 A T 3: 116,027,482 H312L possibly damaging Het
Fat4 C A 3: 38,890,579 A1207D possibly damaging Het
Flnb T C 14: 7,926,518 probably benign Het
Hdac10 G T 15: 89,123,868 A593E possibly damaging Het
Hdhd2 T C 18: 76,965,273 probably null Het
Kcnq2 A G 2: 181,109,789 probably benign Het
Kdm7a A G 6: 39,165,130 F405L probably damaging Het
Lypd6b C A 2: 49,943,630 probably benign Het
Mki67 A T 7: 135,694,922 D2794E possibly damaging Het
Mtmr14 T A 6: 113,266,326 F40I probably damaging Het
Olfr131 G T 17: 38,082,653 S108R possibly damaging Het
Olfr213 T A 6: 116,541,007 C185S probably damaging Het
Olfr476 A T 7: 107,967,534 I46F probably damaging Het
Olfr986 A T 9: 40,187,756 I214F probably benign Het
Ppargc1a C A 5: 51,474,322 V322L probably benign Het
Ppfibp1 T A 6: 147,029,697 M917K probably benign Het
Prkg2 C T 5: 98,969,936 probably null Het
Rfx4 A G 10: 84,868,382 E296G possibly damaging Het
Rfx8 T A 1: 39,682,950 K292* probably null Het
Scamp3 C A 3: 89,177,666 probably benign Het
Scn4a A T 11: 106,330,364 I823N possibly damaging Het
Sdk2 A G 11: 113,830,842 V1316A probably damaging Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Stard8 G T X: 99,073,088 R983L probably damaging Het
Tbc1d23 A T 16: 57,192,675 D311E probably benign Het
Tex21 T C 12: 76,198,818 H568R probably benign Het
Tex35 T C 1: 157,105,097 probably benign Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Trim56 A T 5: 137,114,500 V54D possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp668 A T 7: 127,866,282 C577S probably damaging Het
Other mutations in Tgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Tgs1 APN 4 3585473 nonsense probably null
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