Incidental Mutation 'R6442:Tgs1'
ID 519049
Institutional Source Beutler Lab
Gene Symbol Tgs1
Ensembl Gene ENSMUSG00000028233
Gene Name trimethylguanosine synthase 1
Synonyms Ncoa6ip, D4Ertd800e, Pimt
MMRRC Submission 044580-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6442 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 3574875-3616619 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 3604760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 727 (Y727*)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
AlphaFold Q923W1
Predicted Effect probably null
Transcript: ENSMUST00000052712
AA Change: Y727*
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: Y727*

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: ENSMUST00000130514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146315
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (36/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp9a T C 2: 168,491,481 (GRCm39) T695A probably benign Het
Btla A G 16: 45,044,821 (GRCm39) N36D probably benign Het
Btla T C 16: 45,070,713 (GRCm39) V224A possibly damaging Het
Cep126 T C 9: 8,100,564 (GRCm39) N657D probably benign Het
Cops3 T A 11: 59,718,780 (GRCm39) K171N probably benign Het
Crocc2 A G 1: 93,112,775 (GRCm39) R193G probably benign Het
Dis3l T C 9: 64,214,837 (GRCm39) I911V probably benign Het
Dpp6 G A 5: 27,923,507 (GRCm39) probably null Het
Efcab5 A T 11: 76,996,260 (GRCm39) Y1100* probably null Het
Fcgbpl1 C T 7: 27,843,611 (GRCm39) T833I possibly damaging Het
Galnt10 A G 11: 57,656,448 (GRCm39) T211A probably benign Het
Gdf9 A G 11: 53,324,515 (GRCm39) T95A probably benign Het
Gm826 T A 2: 160,169,328 (GRCm39) probably benign Het
Hsd17b6 C T 10: 127,829,636 (GRCm39) probably null Het
Hyal4 A G 6: 24,765,849 (GRCm39) N401S probably benign Het
Itga8 C T 2: 12,234,954 (GRCm39) V435I probably benign Het
Nr1h5 G A 3: 102,848,427 (GRCm39) P418L probably damaging Het
Or3a4 G A 11: 73,945,505 (GRCm39) R27W probably benign Het
Or4f15 G A 2: 111,813,874 (GRCm39) P182S probably damaging Het
Or4n4 T G 14: 50,518,826 (GRCm39) K295Q probably damaging Het
Or6c214 C A 10: 129,591,277 (GRCm39) G14V probably damaging Het
Or9i14 T C 19: 13,792,992 (GRCm39) probably benign Het
Prdm11 G A 2: 92,805,990 (GRCm39) A320V probably benign Het
Ptpn5 T C 7: 46,732,831 (GRCm39) probably null Het
Reln T A 5: 22,137,774 (GRCm39) I2473L probably benign Het
Rmnd5a A T 6: 71,371,659 (GRCm39) C180* probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sapcd2 T A 2: 25,266,134 (GRCm39) probably benign Het
Sec24b A G 3: 129,790,350 (GRCm39) L462S probably damaging Het
Slc26a9 A T 1: 131,686,555 (GRCm39) Y425F possibly damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Tmem80 T C 7: 140,915,839 (GRCm39) V83A probably benign Het
Ttn T C 2: 76,551,978 (GRCm39) T31220A probably benign Het
Usp46 A T 5: 74,177,377 (GRCm39) D167E probably benign Het
Vmn2r67 T A 7: 84,805,046 (GRCm39) D22V possibly damaging Het
Zswim5 C A 4: 116,808,202 (GRCm39) P262Q probably damaging Het
Other mutations in Tgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Tgs1 APN 4 3,591,292 (GRCm39) missense possibly damaging 0.93
IGL01154:Tgs1 APN 4 3,585,473 (GRCm39) nonsense probably null
IGL01554:Tgs1 APN 4 3,593,632 (GRCm39) missense probably null 0.68
IGL01613:Tgs1 APN 4 3,585,183 (GRCm39) missense possibly damaging 0.92
IGL02117:Tgs1 APN 4 3,585,836 (GRCm39) missense probably damaging 1.00
IGL02259:Tgs1 APN 4 3,604,743 (GRCm39) missense probably damaging 0.96
IGL02697:Tgs1 APN 4 3,585,564 (GRCm39) missense probably benign 0.01
IGL02814:Tgs1 APN 4 3,585,719 (GRCm39) missense probably damaging 1.00
IGL02962:Tgs1 APN 4 3,586,181 (GRCm39) missense probably benign 0.04
IGL03223:Tgs1 APN 4 3,591,322 (GRCm39) splice site probably benign
IGL03340:Tgs1 APN 4 3,604,813 (GRCm39) missense probably benign 0.44
K2124:Tgs1 UTSW 4 3,595,547 (GRCm39) missense probably benign 0.00
R0189:Tgs1 UTSW 4 3,593,620 (GRCm39) missense probably benign 0.08
R0708:Tgs1 UTSW 4 3,586,152 (GRCm39) missense probably benign 0.07
R1029:Tgs1 UTSW 4 3,593,471 (GRCm39) missense probably damaging 0.98
R1446:Tgs1 UTSW 4 3,604,848 (GRCm39) missense probably damaging 1.00
R1623:Tgs1 UTSW 4 3,585,964 (GRCm39) missense probably benign
R1711:Tgs1 UTSW 4 3,598,658 (GRCm39) missense probably damaging 1.00
R1889:Tgs1 UTSW 4 3,614,928 (GRCm39) missense probably benign 0.31
R2911:Tgs1 UTSW 4 3,585,616 (GRCm39) missense probably benign 0.00
R3695:Tgs1 UTSW 4 3,604,949 (GRCm39) splice site probably null
R4615:Tgs1 UTSW 4 3,585,156 (GRCm39) missense probably damaging 1.00
R5460:Tgs1 UTSW 4 3,586,170 (GRCm39) missense probably benign
R6088:Tgs1 UTSW 4 3,595,383 (GRCm39) missense probably benign 0.06
R7542:Tgs1 UTSW 4 3,595,439 (GRCm39) missense probably benign 0.01
R7894:Tgs1 UTSW 4 3,598,652 (GRCm39) missense probably benign 0.10
R7966:Tgs1 UTSW 4 3,586,215 (GRCm39) missense probably benign 0.02
R7996:Tgs1 UTSW 4 3,605,842 (GRCm39) missense probably damaging 1.00
R8202:Tgs1 UTSW 4 3,586,097 (GRCm39) missense probably benign 0.01
R8298:Tgs1 UTSW 4 3,605,840 (GRCm39) missense probably damaging 1.00
R9006:Tgs1 UTSW 4 3,595,427 (GRCm39) missense probably benign 0.02
R9035:Tgs1 UTSW 4 3,593,491 (GRCm39) missense probably benign 0.01
R9052:Tgs1 UTSW 4 3,585,166 (GRCm39) missense probably benign 0.00
R9188:Tgs1 UTSW 4 3,585,693 (GRCm39) missense probably benign 0.13
R9378:Tgs1 UTSW 4 3,595,475 (GRCm39) missense probably benign 0.01
R9664:Tgs1 UTSW 4 3,585,964 (GRCm39) missense probably benign
R9696:Tgs1 UTSW 4 3,575,071 (GRCm39) missense possibly damaging 0.63
R9750:Tgs1 UTSW 4 3,585,869 (GRCm39) missense probably damaging 1.00
X0023:Tgs1 UTSW 4 3,585,912 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTTTGGGAGATGACTGGACAAAAC -3'
(R):5'- AGGACTTCCAAAGGATATCCATC -3'

Sequencing Primer
(F):5'- GCTGTCTTCAGTCACTCCAGAAGAG -3'
(R):5'- GGTGGACTTAGGAACACA -3'
Posted On 2018-05-24