Incidental Mutation 'IGL01613:Tgs1'
ID 92248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgs1
Ensembl Gene ENSMUSG00000028233
Gene Name trimethylguanosine synthase 1
Synonyms Ncoa6ip, D4Ertd800e, Pimt
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01613
Quality Score
Status
Chromosome 4
Chromosomal Location 3574875-3616619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3585183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 108 (F108L)
Ref Sequence ENSEMBL: ENSMUSP00000054112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052712]
AlphaFold Q923W1
Predicted Effect possibly damaging
Transcript: ENSMUST00000052712
AA Change: F108L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: F108L

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V 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
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
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
Posted On 2013-12-09