Incidental Mutation 'IGL01554:Tgs1'
| ID |
90656 |
| 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)
|
| Stock # |
IGL01554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
3574875-3616619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3593632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 507
(S507G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052712]
|
| AlphaFold |
Q923W1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052712
AA Change: S507G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: S507G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130514
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
| Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
| Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
| Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
| Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
| Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
| Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
| Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
| Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
| Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
| Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
| Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
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 |
|
|
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 |
|
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 |
Incidental Mutation