Incidental Mutation 'R9750:Tgs1'
| ID |
732460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgs1
|
| Ensembl Gene |
ENSMUSG00000028233 |
| Gene Name |
trimethylguanosine synthase 1 |
| Synonyms |
Ncoa6ip, D4Ertd800e, Pimt |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3574875-3616619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3585869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 249
(Q249K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052712]
|
| AlphaFold |
Q923W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052712
AA Change: Q249K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: Q249K
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
G |
T |
11: 50,494,333 (GRCm39) |
V136L |
probably benign |
Het |
| Adamtsl3 |
G |
T |
7: 82,244,589 (GRCm39) |
L1348F |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,504,102 (GRCm39) |
T369S |
probably benign |
Het |
| Anapc2 |
T |
G |
2: 25,174,982 (GRCm39) |
V700G |
possibly damaging |
Het |
| Aox3 |
C |
T |
1: 58,215,648 (GRCm39) |
Q1027* |
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,317,756 (GRCm39) |
T338A |
probably benign |
Het |
| Carf |
T |
A |
1: 60,171,158 (GRCm39) |
Y240* |
probably null |
Het |
| Ccl21a |
G |
A |
4: 42,773,875 (GRCm39) |
A15V |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,261,462 (GRCm39) |
I429N |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,594,510 (GRCm39) |
S259P |
probably benign |
Het |
| Esp15 |
A |
G |
17: 39,955,603 (GRCm39) |
M57V |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,915,157 (GRCm39) |
I1597T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,061 (GRCm39) |
S7G |
probably benign |
Het |
| Gm11562 |
G |
A |
11: 99,510,856 (GRCm39) |
P115S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Kansl1l |
G |
C |
1: 66,817,150 (GRCm39) |
I403M |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,747,499 (GRCm39) |
H1505R |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lpgat1 |
T |
A |
1: 191,510,587 (GRCm39) |
F391I |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mon1a |
T |
A |
9: 107,778,778 (GRCm39) |
V334E |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,117,659 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 59,024,682 (GRCm39) |
R453W |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,858 (GRCm39) |
D121G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,684 (GRCm39) |
V572A |
probably benign |
Het |
| Pgr |
T |
C |
9: 8,901,918 (GRCm39) |
S484P |
possibly damaging |
Het |
| Pygl |
G |
T |
12: 70,245,303 (GRCm39) |
S473R |
possibly damaging |
Het |
| Samd1 |
T |
C |
8: 84,725,989 (GRCm39) |
V410A |
probably damaging |
Het |
| Serpina3j |
T |
G |
12: 104,280,942 (GRCm39) |
H38Q |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,204 (GRCm39) |
Y559C |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,727,866 (GRCm39) |
D426V |
unknown |
Het |
| Slc25a21 |
T |
C |
12: 56,785,382 (GRCm39) |
K158R |
probably benign |
Het |
| Smc1b |
A |
T |
15: 85,016,106 (GRCm39) |
N11K |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tcap |
A |
G |
11: 98,275,228 (GRCm39) |
T121A |
probably benign |
Het |
| Tiam1 |
A |
T |
16: 89,695,394 (GRCm39) |
L21Q |
probably damaging |
Het |
| Tmem131l |
G |
A |
3: 83,831,358 (GRCm39) |
A858V |
probably damaging |
Het |
| Trpm3 |
G |
A |
19: 22,903,495 (GRCm39) |
R927H |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,077,960 (GRCm39) |
H870L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,903,889 (GRCm39) |
C1273S |
possibly damaging |
Het |
| Zfp960 |
A |
T |
17: 17,307,898 (GRCm39) |
H204L |
probably 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 |
|
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 |
|
X0023:Tgs1
|
UTSW |
4 |
3,585,912 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCACCAAAGCTAGAGG -3'
(R):5'- CTCACAGTTATGTTGTTAATCGCAG -3'
Sequencing Primer
(F):5'- CCAAAGCTAGAGGTCCCAGAG -3'
(R):5'- GGTCATTATCATTTGAGCCAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation