Incidental Mutation 'R7894:Tgs1'
ID 609503
Institutional Source Beutler Lab
Gene Symbol Tgs1
Ensembl Gene ENSMUSG00000028233
Gene Name trimethylguanosine synthase 1
Synonyms Ncoa6ip, D4Ertd800e, Pimt
MMRRC Submission 045946-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7894 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 3574875-3616619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3598652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 655 (K655I)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
AlphaFold Q923W1
Predicted Effect probably benign
Transcript: ENSMUST00000052712
AA Change: K655I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: K655I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,415 (GRCm39) M1551T possibly damaging Het
Abcc9 A G 6: 142,539,733 (GRCm39) *1547Q probably null Het
Adamts20 A C 15: 94,249,641 (GRCm39) C459G probably damaging Het
Adamts5 C T 16: 85,674,808 (GRCm39) W452* probably null Het
Adcy8 G T 15: 64,792,054 (GRCm39) Q301K possibly damaging Het
Adgrv1 A C 13: 81,715,570 (GRCm39) C873G probably benign Het
Ak9 A G 10: 41,296,535 (GRCm39) D1427G unknown Het
Amy2a1 T A 3: 113,324,190 (GRCm39) M117L possibly damaging Het
Ap5z1 G T 5: 142,452,039 (GRCm39) R23L probably benign Het
Ap5z1 C T 5: 142,456,191 (GRCm39) Q337* probably null Het
Astn1 C A 1: 158,429,508 (GRCm39) Q759K probably damaging Het
Cd276 T A 9: 58,444,762 (GRCm39) T70S possibly damaging Het
Cd38 C T 5: 44,057,746 (GRCm39) T106I probably damaging Het
Cdon C G 9: 35,388,244 (GRCm39) R740G probably damaging Het
Clk2 C T 3: 89,076,201 (GRCm39) R124W possibly damaging Het
Cyp1b1 C T 17: 80,021,644 (GRCm39) V33M possibly damaging Het
Dab1 T A 4: 104,589,335 (GRCm39) D547E probably benign Het
Degs1 A T 1: 182,104,416 (GRCm39) Y290N probably damaging Het
Degs1 G C 1: 182,104,417 (GRCm39) H289Q probably benign Het
Dop1b T A 16: 93,607,092 (GRCm39) C2249S probably benign Het
Ecpas T C 4: 58,853,708 (GRCm39) N361S probably damaging Het
Ehd4 A C 2: 119,932,909 (GRCm39) Y172* probably null Het
Erc2 A G 14: 27,499,165 (GRCm39) D347G probably damaging Het
Espl1 T G 15: 102,212,460 (GRCm39) V522G probably damaging Het
Fabp9 T A 3: 10,262,227 (GRCm39) T10S probably benign Het
Fam193a T C 5: 34,597,877 (GRCm39) I558T possibly damaging Het
Fhod1 T C 8: 106,057,789 (GRCm39) E912G probably damaging Het
Gja1 T C 10: 56,264,645 (GRCm39) F335L possibly damaging Het
Gm29106 A G 1: 118,127,265 (GRCm39) H319R probably damaging Het
Hunk C T 16: 90,269,353 (GRCm39) S299F probably damaging Het
Hydin C T 8: 111,239,642 (GRCm39) T1974M possibly damaging Het
Ighv10-1 T A 12: 114,442,650 (GRCm39) T112S probably damaging Het
Ireb2 T A 9: 54,789,620 (GRCm39) V98E probably damaging Het
Irf4 A C 13: 30,937,435 (GRCm39) H167P probably benign Het
Irf6 C T 1: 192,845,021 (GRCm39) P164L probably benign Het
Josd1 A G 15: 79,561,451 (GRCm39) I119T probably damaging Het
Kcna5 G T 6: 126,512,011 (GRCm39) T39K probably damaging Het
Klhl24 A G 16: 19,941,750 (GRCm39) D566G probably damaging Het
Kmt2a T A 9: 44,761,154 (GRCm39) K232* probably null Het
Krt36 A G 11: 99,996,061 (GRCm39) L121P probably damaging Het
Lama3 A T 18: 12,595,864 (GRCm39) H931L probably benign Het
Lamp3 A T 16: 19,474,141 (GRCm39) I411N probably damaging Het
Lingo3 C T 10: 80,670,610 (GRCm39) W440* probably null Het
Mia2 T C 12: 59,236,433 (GRCm39) Y712H probably damaging Het
Mlh1 T A 9: 111,059,145 (GRCm39) probably null Het
Mta3 T A 17: 84,070,363 (GRCm39) S174T probably benign Het
Myo15a A G 11: 60,381,963 (GRCm39) T347A Het
Naaladl2 C T 3: 23,900,718 (GRCm39) R704H possibly damaging Het
Nfib T C 4: 82,246,030 (GRCm39) N394S probably benign Het
Nr2f2 A G 7: 70,009,681 (GRCm39) Y133H probably damaging Het
Or2ak7 C T 11: 58,575,500 (GRCm39) S267F possibly damaging Het
Or2i1 C T 17: 37,508,047 (GRCm39) E196K probably damaging Het
Or4c115 A G 2: 88,927,932 (GRCm39) V113A possibly damaging Het
Or4f61 A T 2: 111,922,822 (GRCm39) C75S probably benign Het
Or5p62 T A 7: 107,771,391 (GRCm39) M187L probably benign Het
Phgdh C A 3: 98,247,124 (GRCm39) V9L probably damaging Het
Pkd2 T A 5: 104,628,103 (GRCm39) D392E probably damaging Het
Plekhm3 A G 1: 64,960,874 (GRCm39) S461P probably benign Het
Prss39 A G 1: 34,539,308 (GRCm39) T183A probably benign Het
Pter T A 2: 12,999,566 (GRCm39) I235K probably damaging Het
Ptp4a3 T C 15: 73,628,756 (GRCm39) V172A probably benign Het
Rasa2 T C 9: 96,484,780 (GRCm39) N145D probably benign Het
Rasal2 A T 1: 157,071,218 (GRCm39) H45Q probably benign Het
Rbm43 A G 2: 51,815,909 (GRCm39) V104A probably damaging Het
Rhbdd2 C A 5: 135,667,969 (GRCm39) probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rimbp2 T A 5: 128,838,528 (GRCm39) N1023I probably damaging Het
Rtl1 A T 12: 109,561,031 (GRCm39) D269E possibly damaging Het
Sbp A G 17: 24,161,163 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,316,020 (GRCm39) T374S probably benign Het
Thsd1 A C 8: 22,749,585 (GRCm39) T819P probably damaging Het
Tmprss11c C T 5: 86,379,655 (GRCm39) V418M probably damaging Het
Top2a A T 11: 98,900,431 (GRCm39) D645E probably damaging Het
Top2b G A 14: 16,413,081 (GRCm38) V997I possibly damaging Het
Ttc34 A G 4: 154,943,840 (GRCm39) D118G probably damaging Het
Ttll5 A G 12: 85,935,948 (GRCm39) D353G probably damaging Het
Uba6 A T 5: 86,265,924 (GRCm39) Y994* probably null Het
Vinac1 A C 2: 128,879,049 (GRCm39) V959G unknown Het
Vmn1r189 A T 13: 22,285,906 (GRCm39) Y310* probably null Het
Vps13c T A 9: 67,834,265 (GRCm39) I1644N probably damaging Het
Zfp811 T C 17: 33,017,821 (GRCm39) D73G possibly damaging Het
Zfp951 A T 5: 104,962,838 (GRCm39) C243S probably benign 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
R6442:Tgs1 UTSW 4 3,604,760 (GRCm39) nonsense probably null
R7542:Tgs1 UTSW 4 3,595,439 (GRCm39) missense probably benign 0.01
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'- CACATGTGGTCTGCTACAATCC -3'
(R):5'- GGTATGATATGTGCAACTGGTTCAG -3'

Sequencing Primer
(F):5'- GTCTGCTACAATCCAAATTGGTGG -3'
(R):5'- TATGTGCAACTGGTTCAGAAAAAGAC -3'
Posted On 2019-12-20