Incidental Mutation 'IGL01154:Tgs1'
ID |
51003 |
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 # |
IGL01154
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
3574875-3616619 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 3585473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 117
(K117*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052712]
|
AlphaFold |
Q923W1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052712
AA Change: K117*
|
SMART Domains |
Protein: ENSMUSP00000054112 Gene: ENSMUSG00000028233 AA Change: K117*
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: 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
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 |
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 |
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 |
2013-06-21 |