Incidental Mutation 'IGL00159:Gspt1'
| ID |
870 |
| 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 # |
IGL00159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
11037156-11072189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11040476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 610
(M610V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080030]
[ENSMUST00000167571]
|
| AlphaFold |
Q8R050 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080030
AA Change: M611V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: M611V
| 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: ENSMUST00000164098
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000167025
AA Change: M74V
|
| SMART Domains |
Protein: ENSMUSP00000130959
Gene: ENSMUSG00000062203
AA Change: M74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU_D3
|
18 |
96 |
2.2e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167571
AA Change: M610V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: M610V
| 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: ENSMUST00000181526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230245
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
| Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
| Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
| Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
| Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
| Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
| Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
| Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
| Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
| Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
| Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
| Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
| Other mutations in Gspt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02079:Gspt1
|
APN |
16 |
11,058,693 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
2011-07-12 |
Incidental Mutation