Incidental Mutation 'IGL02962:Tgs1'
ID365403
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 #IGL02962
Quality Score
Status
Chromosome4
Chromosomal Location3574875-3616619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 3586181 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 353 (A353S)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
Predicted Effect probably benign
Transcript: ENSMUST00000052712
AA Change: A353S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: A353S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Tgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Tgs1 APN 4 3591292 missense possibly damaging 0.93
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
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 On2015-12-18