Incidental Mutation 'IGL03092:Gspt1'
ID |
418407 |
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 # |
IGL03092
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
11037156-11072189 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 11056763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 211
(V211I)
|
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: V212I
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000078940 Gene: ENSMUSG00000062203 AA Change: V212I
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: V211I
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000130583 Gene: ENSMUSG00000062203 AA Change: V211I
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
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 |
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 |
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 |
2016-08-02 |