Incidental Mutation 'R5170:Gtse1'
| ID |
397523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtse1
|
| Ensembl Gene |
ENSMUSG00000022385 |
| Gene Name |
G two S phase expressed protein 1 |
| Synonyms |
B99, Gtse-1 |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
85859745-85876573 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 85864264 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170629]
[ENSMUST00000231074]
|
| AlphaFold |
Q8R080 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000170629
|
| SMART Domains |
Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTSE1_N
|
10 |
153 |
3e-62 |
PFAM |
|
low complexity region
|
284 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231074
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,588,625 (GRCm38) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,803,197 (GRCm38) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,408,050 (GRCm38) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,213,650 (GRCm38) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,030,794 (GRCm38) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,223,938 (GRCm38) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,514,200 (GRCm38) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 99,279,550 (GRCm38) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 120,070,609 (GRCm38) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,741,791 (GRCm38) |
Y976C |
probably benign |
Het |
| Defa41 |
A |
T |
8: 21,201,680 (GRCm38) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 19,088,019 (GRCm38) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,662,214 (GRCm38) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,857,694 (GRCm38) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,429,854 (GRCm38) |
V1779M |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,235,570 (GRCm38) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,730,498 (GRCm38) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 69,016,665 (GRCm38) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,887,344 (GRCm38) |
M1L |
probably benign |
Het |
| Lman1l |
G |
A |
9: 57,615,619 (GRCm38) |
R153* |
probably null |
Het |
| Myo16 |
A |
G |
8: 10,569,745 (GRCm38) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,806,037 (GRCm38) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,857,279 (GRCm38) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,714,862 (GRCm38) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,123,178 (GRCm38) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,400,808 (GRCm38) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,963,708 (GRCm38) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,794,674 (GRCm38) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,534,660 (GRCm38) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,316,083 (GRCm38) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,306,838 (GRCm38) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,024,806 (GRCm38) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 84,695,232 (GRCm38) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,104,838 (GRCm38) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,787,069 (GRCm38) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,517,585 (GRCm38) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,209,205 (GRCm38) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,812,957 (GRCm38) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,920,554 (GRCm38) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Gtse1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gtse1
|
APN |
15 |
85,868,817 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL01344:Gtse1
|
APN |
15 |
85,862,066 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01541:Gtse1
|
APN |
15 |
85,875,654 (GRCm38) |
nonsense |
probably null |
|
|
IGL01621:Gtse1
|
APN |
15 |
85,875,082 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01945:Gtse1
|
APN |
15 |
85,871,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02193:Gtse1
|
APN |
15 |
85,862,330 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02215:Gtse1
|
APN |
15 |
85,862,598 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02494:Gtse1
|
APN |
15 |
85,867,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02879:Gtse1
|
APN |
15 |
85,869,063 (GRCm38) |
splice site |
probably benign |
|
|
R0009:Gtse1
|
UTSW |
15 |
85,862,435 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0047:Gtse1
|
UTSW |
15 |
85,862,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0047:Gtse1
|
UTSW |
15 |
85,862,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0576:Gtse1
|
UTSW |
15 |
85,869,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1078:Gtse1
|
UTSW |
15 |
85,862,307 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1442:Gtse1
|
UTSW |
15 |
85,860,102 (GRCm38) |
splice site |
probably benign |
|
|
R1623:Gtse1
|
UTSW |
15 |
85,867,578 (GRCm38) |
missense |
probably benign |
|
|
R1925:Gtse1
|
UTSW |
15 |
85,873,738 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1928:Gtse1
|
UTSW |
15 |
85,862,063 (GRCm38) |
splice site |
probably benign |
|
|
R4565:Gtse1
|
UTSW |
15 |
85,875,184 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5310:Gtse1
|
UTSW |
15 |
85,873,792 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5428:Gtse1
|
UTSW |
15 |
85,862,139 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5748:Gtse1
|
UTSW |
15 |
85,867,577 (GRCm38) |
missense |
probably benign |
|
|
R5996:Gtse1
|
UTSW |
15 |
85,864,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6179:Gtse1
|
UTSW |
15 |
85,868,957 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6379:Gtse1
|
UTSW |
15 |
85,864,224 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6381:Gtse1
|
UTSW |
15 |
85,862,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6434:Gtse1
|
UTSW |
15 |
85,875,169 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7086:Gtse1
|
UTSW |
15 |
85,875,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7304:Gtse1
|
UTSW |
15 |
85,871,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7485:Gtse1
|
UTSW |
15 |
85,868,700 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7580:Gtse1
|
UTSW |
15 |
85,862,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7856:Gtse1
|
UTSW |
15 |
85,864,141 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8496:Gtse1
|
UTSW |
15 |
85,862,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8674:Gtse1
|
UTSW |
15 |
85,862,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8987:Gtse1
|
UTSW |
15 |
85,868,908 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9491:Gtse1
|
UTSW |
15 |
85,871,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9642:Gtse1
|
UTSW |
15 |
85,867,496 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Gtse1
|
UTSW |
15 |
85,868,746 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
Z1177:Gtse1
|
UTSW |
15 |
85,875,737 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAGGTAGTCTTCACCTCTC -3'
(R):5'- AGTTCACTGCACATGGCCAG -3'
Sequencing Primer
(F):5'- AGGTAGTCTTCACCTCTCAAATCGAC -3'
(R):5'- TCACCAAGTTGGCTAAGCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation