Incidental Mutation 'IGL01490:Gfpt2'
| ID |
88840 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfpt2
|
| Ensembl Gene |
ENSMUSG00000020363 |
| Gene Name |
glutamine fructose-6-phosphate transaminase 2 |
| Synonyms |
GFAT2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49685005-49729440 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 49717954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020629]
|
| AlphaFold |
Q9Z2Z9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020629
|
| SMART Domains |
Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_6
|
72 |
212 |
1e-19 |
PFAM |
|
Pfam:GATase_4
|
75 |
206 |
1.6e-7 |
PFAM |
|
Pfam:GATase_7
|
90 |
209 |
8.2e-16 |
PFAM |
|
Pfam:SIS
|
363 |
492 |
1.7e-38 |
PFAM |
|
Pfam:SIS
|
534 |
665 |
1.2e-29 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,023 (GRCm39) |
Y2131C |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,846,291 (GRCm39) |
S510T |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,167,575 (GRCm39) |
N314Y |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,303 (GRCm39) |
Q150* |
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,455 (GRCm39) |
Y260C |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,642,725 (GRCm39) |
D481G |
possibly damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,213,534 (GRCm39) |
S3P |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,869 (GRCm39) |
S179R |
possibly damaging |
Het |
| Dock2 |
A |
T |
11: 34,596,608 (GRCm39) |
I416N |
probably damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,355 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,668,102 (GRCm39) |
I46V |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,686 (GRCm39) |
D374G |
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,259,385 (GRCm39) |
I374V |
possibly damaging |
Het |
| H2-M10.2 |
G |
T |
17: 36,596,377 (GRCm39) |
T156K |
probably damaging |
Het |
| Il20rb |
T |
A |
9: 100,355,207 (GRCm39) |
I79F |
probably damaging |
Het |
| Kcnip3 |
C |
T |
2: 127,352,799 (GRCm39) |
R44H |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,057,579 (GRCm39) |
D551V |
possibly damaging |
Het |
| Mex3b |
C |
A |
7: 82,519,035 (GRCm39) |
P450Q |
possibly damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,330 (GRCm39) |
L26P |
probably benign |
Het |
| Msh3 |
G |
A |
13: 92,436,813 (GRCm39) |
T499M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,566 (GRCm39) |
S1466G |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,538,089 (GRCm39) |
R1324G |
possibly damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
T |
A |
6: 124,705,307 (GRCm39) |
E208V |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,397,169 (GRCm39) |
V354A |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,715 (GRCm39) |
I108V |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,422 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,914 (GRCm39) |
I206N |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,132 (GRCm39) |
K122N |
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,027,381 (GRCm39) |
G54V |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,291,147 (GRCm39) |
C2153S |
probably damaging |
Het |
|
| Other mutations in Gfpt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Gfpt2
|
APN |
11 |
49,699,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01451:Gfpt2
|
APN |
11 |
49,698,517 (GRCm39) |
splice site |
probably benign |
|
|
IGL01550:Gfpt2
|
APN |
11 |
49,715,150 (GRCm39) |
splice site |
probably null |
|
|
IGL01552:Gfpt2
|
APN |
11 |
49,695,832 (GRCm39) |
nonsense |
probably null |
|
|
IGL02349:Gfpt2
|
APN |
11 |
49,698,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02815:Gfpt2
|
APN |
11 |
49,714,084 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
plethora
|
UTSW |
11 |
49,715,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Gfpt2
|
UTSW |
11 |
49,720,602 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0539:Gfpt2
|
UTSW |
11 |
49,723,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Gfpt2
|
UTSW |
11 |
49,718,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1178:Gfpt2
|
UTSW |
11 |
49,714,136 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1340:Gfpt2
|
UTSW |
11 |
49,723,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2372:Gfpt2
|
UTSW |
11 |
49,698,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4154:Gfpt2
|
UTSW |
11 |
49,726,605 (GRCm39) |
splice site |
probably null |
|
|
R4476:Gfpt2
|
UTSW |
11 |
49,715,169 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4679:Gfpt2
|
UTSW |
11 |
49,714,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4863:Gfpt2
|
UTSW |
11 |
49,701,797 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5113:Gfpt2
|
UTSW |
11 |
49,714,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5509:Gfpt2
|
UTSW |
11 |
49,717,973 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5830:Gfpt2
|
UTSW |
11 |
49,699,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6435:Gfpt2
|
UTSW |
11 |
49,726,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7079:Gfpt2
|
UTSW |
11 |
49,728,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7135:Gfpt2
|
UTSW |
11 |
49,695,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Gfpt2
|
UTSW |
11 |
49,714,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7294:Gfpt2
|
UTSW |
11 |
49,709,435 (GRCm39) |
nonsense |
probably null |
|
|
R7384:Gfpt2
|
UTSW |
11 |
49,701,817 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7778:Gfpt2
|
UTSW |
11 |
49,715,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Gfpt2
|
UTSW |
11 |
49,714,142 (GRCm39) |
missense |
probably benign |
|
|
R7824:Gfpt2
|
UTSW |
11 |
49,715,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Gfpt2
|
UTSW |
11 |
49,714,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8262:Gfpt2
|
UTSW |
11 |
49,714,607 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8437:Gfpt2
|
UTSW |
11 |
49,695,694 (GRCm39) |
intron |
probably benign |
|
|
R8791:Gfpt2
|
UTSW |
11 |
49,714,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9072:Gfpt2
|
UTSW |
11 |
49,714,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation