Incidental Mutation 'IGL02079:Gspt1'
| ID |
186069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gspt1
|
| Ensembl Gene |
ENSMUSG00000062203 |
| Gene Name |
G1 to S phase transition 1 |
| Synonyms |
Gst-1, G1st, Gst-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL02079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
11037156-11072189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11058693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 123
(S123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080030]
[ENSMUST00000167571]
|
| AlphaFold |
Q8R050 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080030
AA Change: S123P
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: S123P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
64 |
81 |
4.3e-8 |
PFAM |
|
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
193 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
209 |
482 |
3.1e-47 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
451 |
518 |
1.2e-8 |
PFAM |
|
Pfam:GTP_EFTU_D3
|
524 |
632 |
7.6e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167571
AA Change: S123P
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: S123P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
64 |
81 |
7.1e-8 |
PFAM |
|
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
192 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
208 |
476 |
4.3e-49 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
450 |
517 |
1.3e-7 |
PFAM |
|
Pfam:GTP_EFTU_D3
|
523 |
631 |
2.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230245
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,579,960 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,410,877 (GRCm39) |
M204K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,616 (GRCm39) |
V2422A |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,868 (GRCm39) |
|
probably null |
Het |
| Arsa |
T |
C |
15: 89,357,554 (GRCm39) |
T470A |
probably benign |
Het |
| Bri3bp |
T |
C |
5: 125,531,753 (GRCm39) |
V233A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,388,675 (GRCm39) |
N236I |
possibly damaging |
Het |
| Ephb6 |
T |
A |
6: 41,592,948 (GRCm39) |
D395E |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,505,641 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,323,089 (GRCm39) |
N1080I |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,888,768 (GRCm39) |
D266E |
probably benign |
Het |
| Kctd17 |
T |
C |
15: 78,314,356 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,359,312 (GRCm39) |
C313S |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,544,126 (GRCm39) |
S106R |
probably benign |
Het |
| Lgr5 |
A |
C |
10: 115,288,099 (GRCm39) |
S776R |
probably damaging |
Het |
| Mettl16 |
T |
G |
11: 74,708,450 (GRCm39) |
C510G |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,146,811 (GRCm39) |
T101A |
possibly damaging |
Het |
| Myh6 |
A |
T |
14: 55,187,998 (GRCm39) |
L1152Q |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,681,001 (GRCm39) |
R87H |
possibly damaging |
Het |
| Npepl1 |
C |
T |
2: 173,961,183 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,950,511 (GRCm39) |
M548K |
probably damaging |
Het |
| Or10a48 |
T |
A |
7: 108,425,143 (GRCm39) |
E21V |
probably damaging |
Het |
| Or4c11c |
T |
A |
2: 88,661,991 (GRCm39) |
C177S |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,557,449 (GRCm39) |
Q69L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,819,067 (GRCm39) |
V192A |
possibly damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,792,706 (GRCm39) |
I211N |
probably benign |
Het |
| Plekhg3 |
T |
A |
12: 76,607,203 (GRCm39) |
Y88N |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,566,540 (GRCm39) |
C58Y |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rusc2 |
A |
G |
4: 43,425,668 (GRCm39) |
S1258G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,153,704 (GRCm39) |
R710G |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,766,885 (GRCm39) |
S457P |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,198,272 (GRCm39) |
G1205D |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,978 (GRCm39) |
S1080P |
probably benign |
Het |
|
| Other mutations in Gspt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Gspt1
|
APN |
16 |
11,040,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00902:Gspt1
|
APN |
16 |
11,050,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00983:Gspt1
|
APN |
16 |
11,048,861 (GRCm39) |
splice site |
probably benign |
|
|
IGL01775:Gspt1
|
APN |
16 |
11,041,159 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02122:Gspt1
|
APN |
16 |
11,047,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02525:Gspt1
|
APN |
16 |
11,048,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03092:Gspt1
|
APN |
16 |
11,056,763 (GRCm39) |
missense |
probably benign |
0.11 |
|
goliad
|
UTSW |
16 |
11,042,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0835:Gspt1
|
UTSW |
16 |
11,056,802 (GRCm39) |
missense |
probably benign |
|
|
R1519:Gspt1
|
UTSW |
16 |
11,038,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Gspt1
|
UTSW |
16 |
11,047,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Gspt1
|
UTSW |
16 |
11,040,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Gspt1
|
UTSW |
16 |
11,040,529 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5121:Gspt1
|
UTSW |
16 |
11,041,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5408:Gspt1
|
UTSW |
16 |
11,071,719 (GRCm39) |
missense |
probably benign |
|
|
R5410:Gspt1
|
UTSW |
16 |
11,048,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5517:Gspt1
|
UTSW |
16 |
11,071,843 (GRCm39) |
missense |
unknown |
|
|
R5704:Gspt1
|
UTSW |
16 |
11,046,057 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6224:Gspt1
|
UTSW |
16 |
11,042,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6317:Gspt1
|
UTSW |
16 |
11,041,072 (GRCm39) |
splice site |
probably null |
|
|
R7069:Gspt1
|
UTSW |
16 |
11,040,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Gspt1
|
UTSW |
16 |
11,071,692 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7317:Gspt1
|
UTSW |
16 |
11,040,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8137:Gspt1
|
UTSW |
16 |
11,058,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9401:Gspt1
|
UTSW |
16 |
11,050,535 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation