Incidental Mutation 'R7996:Tgs1'
| ID |
616074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgs1
|
| Ensembl Gene |
ENSMUSG00000028233 |
| Gene Name |
trimethylguanosine synthase 1 |
| Synonyms |
Ncoa6ip, D4Ertd800e, Pimt |
| MMRRC Submission |
046036-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3574875-3616619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3605842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 786
(S786P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052712]
|
| AlphaFold |
Q923W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052712
AA Change: S786P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: S786P
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,977,490 (GRCm39) |
N394K |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,505,001 (GRCm39) |
D69G |
possibly damaging |
Het |
| Arid5a |
G |
T |
1: 36,356,526 (GRCm39) |
C121F |
unknown |
Het |
| Ccne2 |
C |
A |
4: 11,201,347 (GRCm39) |
Q292K |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,459,194 (GRCm39) |
I723T |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,118,828 (GRCm39) |
T62A |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,981,329 (GRCm39) |
H87L |
possibly damaging |
Het |
| Derl1 |
T |
G |
15: 57,741,970 (GRCm39) |
M122L |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,378 (GRCm39) |
Q215R |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,831,694 (GRCm39) |
N289D |
probably benign |
Het |
| Elapor2 |
A |
C |
5: 9,512,881 (GRCm39) |
K958N |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,242,888 (GRCm39) |
I1084L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,889 (GRCm39) |
V87A |
|
Het |
| Garre1 |
G |
T |
7: 33,963,024 (GRCm39) |
T216K |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,146 (GRCm39) |
T53S |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Katnb1 |
A |
T |
8: 95,824,643 (GRCm39) |
I546F |
possibly damaging |
Het |
| Memo1 |
A |
T |
17: 74,565,491 (GRCm39) |
L24Q |
probably damaging |
Het |
| Mmel1 |
C |
G |
4: 154,976,912 (GRCm39) |
Q529E |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,164 (GRCm39) |
F1024S |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,759 (GRCm39) |
D186G |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,155 (GRCm39) |
V198E |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,107,276 (GRCm39) |
K110R |
probably benign |
Het |
| Pate13 |
G |
A |
9: 35,820,650 (GRCm39) |
R34H |
probably damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,459 (GRCm39) |
S625F |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,329,766 (GRCm39) |
L106* |
probably null |
Het |
| Rabggtb |
T |
C |
3: 153,617,605 (GRCm39) |
H31R |
probably damaging |
Het |
| Rhot1 |
G |
A |
11: 80,148,363 (GRCm39) |
C601Y |
probably damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,309 (GRCm39) |
V53A |
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,344 (GRCm39) |
G200* |
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,770,929 (GRCm39) |
Y153* |
probably null |
Het |
| Slc25a40 |
A |
G |
5: 8,493,653 (GRCm39) |
T168A |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,595,730 (GRCm39) |
R286* |
probably null |
Het |
| Smtnl2 |
T |
A |
11: 72,291,200 (GRCm39) |
K349N |
probably damaging |
Het |
| Snx16 |
G |
T |
3: 10,500,509 (GRCm39) |
D153E |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,487 (GRCm39) |
E182K |
probably damaging |
Het |
| Ssu72 |
A |
C |
4: 155,816,450 (GRCm39) |
N144T |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,030,667 (GRCm39) |
L296I |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,644,254 (GRCm39) |
M225V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,051,441 (GRCm39) |
L4057P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,616 (GRCm39) |
H189R |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,441,311 (GRCm39) |
|
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Trim14 |
A |
T |
4: 46,533,086 (GRCm39) |
C76S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,993,231 (GRCm39) |
Q506L |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,795 (GRCm39) |
F317I |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,639,124 (GRCm39) |
Y335* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,389,573 (GRCm39) |
T1257I |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,863 (GRCm39) |
N87D |
possibly damaging |
Het |
|
| Other mutations in Tgs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- AACCTACCAGGGTGCTGTTG -3'
(R):5'- AACTGGTCATCCTGTCAATCCATC -3'
Sequencing Primer
(F):5'- TGTTGCTGGATTCCAAATCATG -3'
(R):5'- AAAACCCTAGTGATATCATCTCCTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation