Incidental Mutation 'R1078:Gtse1'
| ID |
85753 |
| 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 |
039164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R1078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
85743946-85760774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85746508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 108
(P108L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146088]
[ENSMUST00000170629]
[ENSMUST00000231074]
|
| AlphaFold |
Q8R080 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146088
|
| SMART Domains |
Protein: ENSMUSP00000114504
Gene: ENSMUSG00000035944
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ld8a_
|
105 |
272 |
1e-7 |
SMART |
|
low complexity region
|
342 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170629
AA Change: P108L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128759
Gene: ENSMUSG00000022385
AA Change: P108L
| 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 damaging
Transcript: ENSMUST00000231074
AA Change: P108L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1994 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
| Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
| Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
| Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
| Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
| Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
| Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
| Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
| Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
| Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
| Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
| Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
| Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
| Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gtse1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gtse1
|
APN |
15 |
85,753,018 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01344:Gtse1
|
APN |
15 |
85,746,267 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01541:Gtse1
|
APN |
15 |
85,759,855 (GRCm39) |
nonsense |
probably null |
|
|
IGL01621:Gtse1
|
APN |
15 |
85,759,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01945:Gtse1
|
APN |
15 |
85,755,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02193:Gtse1
|
APN |
15 |
85,746,531 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02215:Gtse1
|
APN |
15 |
85,746,799 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02494:Gtse1
|
APN |
15 |
85,751,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02879:Gtse1
|
APN |
15 |
85,753,264 (GRCm39) |
splice site |
probably benign |
|
|
R0009:Gtse1
|
UTSW |
15 |
85,746,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0047:Gtse1
|
UTSW |
15 |
85,746,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Gtse1
|
UTSW |
15 |
85,746,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0576:Gtse1
|
UTSW |
15 |
85,753,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Gtse1
|
UTSW |
15 |
85,744,303 (GRCm39) |
splice site |
probably benign |
|
|
R1623:Gtse1
|
UTSW |
15 |
85,751,779 (GRCm39) |
missense |
probably benign |
|
|
R1925:Gtse1
|
UTSW |
15 |
85,757,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Gtse1
|
UTSW |
15 |
85,746,264 (GRCm39) |
splice site |
probably benign |
|
|
R4565:Gtse1
|
UTSW |
15 |
85,759,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5170:Gtse1
|
UTSW |
15 |
85,748,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5310:Gtse1
|
UTSW |
15 |
85,757,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5428:Gtse1
|
UTSW |
15 |
85,746,340 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5748:Gtse1
|
UTSW |
15 |
85,751,778 (GRCm39) |
missense |
probably benign |
|
|
R5996:Gtse1
|
UTSW |
15 |
85,748,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6179:Gtse1
|
UTSW |
15 |
85,753,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6379:Gtse1
|
UTSW |
15 |
85,748,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6381:Gtse1
|
UTSW |
15 |
85,746,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6434:Gtse1
|
UTSW |
15 |
85,759,370 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7086:Gtse1
|
UTSW |
15 |
85,759,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Gtse1
|
UTSW |
15 |
85,755,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7485:Gtse1
|
UTSW |
15 |
85,752,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7580:Gtse1
|
UTSW |
15 |
85,746,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Gtse1
|
UTSW |
15 |
85,748,342 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8496:Gtse1
|
UTSW |
15 |
85,746,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8674:Gtse1
|
UTSW |
15 |
85,746,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Gtse1
|
UTSW |
15 |
85,753,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Gtse1
|
UTSW |
15 |
85,755,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Gtse1
|
UTSW |
15 |
85,751,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Gtse1
|
UTSW |
15 |
85,752,947 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Gtse1
|
UTSW |
15 |
85,759,938 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGGTTCATCAAAGCCCCTCG -3'
(R):5'- GCCAGGTGAAGGTTTCTTCCTCTC -3'
Sequencing Primer
(F):5'- AAGCCCCTCGCCTAGATG -3'
(R):5'- ACTTGATTCTCTTGGCAACGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation