Incidental Mutation 'R6435:Gfpt2'
ID |
518753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfpt2
|
Ensembl Gene |
ENSMUSG00000020363 |
Gene Name |
glutamine fructose-6-phosphate transaminase 2 |
Synonyms |
GFAT2 |
MMRRC Submission |
044573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6435 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49685005-49729440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49726478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 628
(S628G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020629]
|
AlphaFold |
Q9Z2Z9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020629
AA Change: S628G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000020629 Gene: ENSMUSG00000020363 AA Change: S628G
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 |
|
Meta Mutation Damage Score |
0.0718 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
T |
2: 31,691,561 (GRCm39) |
T1027S |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,049,787 (GRCm39) |
I159V |
possibly damaging |
Het |
Adcy1 |
A |
G |
11: 7,111,367 (GRCm39) |
N886S |
possibly damaging |
Het |
Baz1b |
G |
A |
5: 135,266,799 (GRCm39) |
D1203N |
probably damaging |
Het |
Chmp2a |
A |
T |
7: 12,766,701 (GRCm39) |
Y72* |
probably null |
Het |
Col6a1 |
A |
T |
10: 76,546,957 (GRCm39) |
I755N |
unknown |
Het |
Defa24 |
T |
A |
8: 22,224,690 (GRCm39) |
F46L |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,749,081 (GRCm39) |
|
probably null |
Het |
Hsdl2 |
C |
A |
4: 59,610,668 (GRCm39) |
Q222K |
unknown |
Het |
Ighv1-9 |
T |
A |
12: 114,547,206 (GRCm39) |
I111F |
probably benign |
Het |
Itch |
G |
A |
2: 155,051,049 (GRCm39) |
D579N |
probably benign |
Het |
Jdp2 |
A |
T |
12: 85,655,132 (GRCm39) |
K65M |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,815,556 (GRCm39) |
E222V |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,652,871 (GRCm39) |
V42A |
probably damaging |
Het |
Mecom |
T |
A |
3: 30,034,398 (GRCm39) |
E426V |
probably damaging |
Het |
Meiosin |
T |
C |
7: 18,834,844 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
G |
T |
1: 52,748,603 (GRCm39) |
Y87* |
probably null |
Het |
Mybpc2 |
A |
G |
7: 44,155,481 (GRCm39) |
V924A |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,431,249 (GRCm39) |
M1196K |
probably benign |
Het |
Nscme3l |
T |
C |
19: 5,553,446 (GRCm39) |
I112V |
probably benign |
Het |
Or52n5 |
A |
G |
7: 104,588,041 (GRCm39) |
M103V |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,280 (GRCm39) |
P297S |
probably benign |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Rgs21 |
A |
G |
1: 144,395,565 (GRCm39) |
F108L |
probably damaging |
Het |
Runx1 |
A |
T |
16: 92,441,183 (GRCm39) |
S209T |
possibly damaging |
Het |
Sdccag8 |
G |
T |
1: 176,642,428 (GRCm39) |
|
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
Tsc1 |
G |
A |
2: 28,566,464 (GRCm39) |
V627M |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,815,952 (GRCm39) |
I347M |
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 |
|
IGL01490:Gfpt2
|
APN |
11 |
49,717,954 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGACCTCACTGATAATGTCACC -3'
(R):5'- TGGTACCCTGAGCCCATAAC -3'
Sequencing Primer
(F):5'- TGTCACCACGATAGCAGTG -3'
(R):5'- TGCATCGGTAAGAAAGAACCTTTAGC -3'
|
Posted On |
2018-05-24 |