Incidental Mutation 'IGL02259:Tgs1'
| ID |
286670 |
| 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 # |
IGL02259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
3574875-3616619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3604743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 722
(N722D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052712]
|
| AlphaFold |
Q923W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052712
AA Change: N722D
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: N722D
| 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: ENSMUST00000130514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146315
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,363 (GRCm39) |
F122L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,429,794 (GRCm39) |
|
probably benign |
Het |
| Ccsap |
G |
A |
8: 124,572,166 (GRCm39) |
T112M |
possibly damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,843 (GRCm39) |
S113P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,341,857 (GRCm39) |
F183L |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,687 (GRCm39) |
S321C |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,131,897 (GRCm39) |
T281I |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,792,246 (GRCm39) |
C233G |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,978,588 (GRCm39) |
I2955T |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,782,733 (GRCm39) |
T33A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,339,559 (GRCm39) |
Y481N |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,391,398 (GRCm39) |
E13V |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,293 (GRCm39) |
K66E |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,427,840 (GRCm39) |
M1103K |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,202,919 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,558 (GRCm39) |
P113T |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,153,264 (GRCm39) |
N1096K |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,248,327 (GRCm39) |
G9W |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,412 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Nbr1 |
G |
A |
11: 101,468,816 (GRCm39) |
A639T |
probably damaging |
Het |
| Nid2 |
G |
T |
14: 19,818,277 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,636,955 (GRCm39) |
D22G |
possibly damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,634 (GRCm39) |
V307I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,458 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,166 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
T |
3: 63,630,170 (GRCm39) |
|
probably null |
Het |
| Prb1b |
A |
T |
6: 132,289,637 (GRCm39) |
D62E |
unknown |
Het |
| Prl8a1 |
A |
C |
13: 27,766,089 (GRCm39) |
V2G |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,297 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,703,166 (GRCm39) |
C760R |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,898 (GRCm39) |
D28G |
probably benign |
Het |
| Zfp457 |
C |
T |
13: 67,444,471 (GRCm39) |
A11T |
possibly damaging |
Het |
| Zfp879 |
T |
C |
11: 50,729,255 (GRCm39) |
S48G |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation