Incidental Mutation 'R4615:Tgs1'
ID 345008
Institutional Source Beutler Lab
Gene Symbol Tgs1
Ensembl Gene ENSMUSG00000028233
Gene Name trimethylguanosine synthase 1
Synonyms Ncoa6ip, D4Ertd800e, Pimt
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 3574875-3616619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3585156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 99 (F99L)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
AlphaFold Q923W1
Predicted Effect probably damaging
Transcript: ENSMUST00000052712
AA Change: F99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: F99L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A possibly 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
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
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'- TCTCAACTGAGGAGTGAGGG -3'
(R):5'- GACTGTTACAAGTACTCAACAGAAG -3'

Sequencing Primer
(F):5'- GGATAAGAAAACCTGCCTTTGC -3'
(R):5'- GAAAACTTAAATGTGGGACAAATCC -3'
Posted On 2015-09-25