Incidental Mutation 'IGL00983:Gspt1'
| ID |
29206 |
| 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 # |
IGL00983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
11037156-11072189 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 11048861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080030]
[ENSMUST00000167571]
|
| AlphaFold |
Q8R050 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080030
|
| SMART Domains |
Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
| 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 |
noncoding transcript
Transcript: ENSMUST00000166063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167571
|
| SMART Domains |
Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
| 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 |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,438 (GRCm39) |
Q307* |
probably null |
Het |
| Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
| Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
| Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,798 (GRCm39) |
E82G |
probably benign |
Het |
| Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
| Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
| Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,281,069 (GRCm39) |
V359D |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
| Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,820,890 (GRCm39) |
|
probably benign |
Het |
| Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
| Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
| Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
| Sdcbp |
G |
T |
4: 6,392,953 (GRCm39) |
E197* |
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
| Tmbim1 |
C |
A |
1: 74,334,422 (GRCm39) |
G46V |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
| Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation