Incidental Mutation 'IGL01552:Gfpt2'
| ID |
90598 |
| 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 # |
IGL01552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49685005-49729440 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 49695832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 21
(E21*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020629]
|
| AlphaFold |
Q9Z2Z9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020629
AA Change: E21*
|
| SMART Domains |
Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: E21*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130129
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
| Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,097,136 (GRCm39) |
|
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,161 (GRCm39) |
M734T |
probably benign |
Het |
| Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
| Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
| Nipsnap1 |
A |
T |
11: 4,839,124 (GRCm39) |
S135C |
probably damaging |
Het |
| Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
| Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
| Sik2 |
C |
A |
9: 50,828,822 (GRCm39) |
|
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,961,286 (GRCm39) |
V111A |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
G |
A |
10: 127,561,970 (GRCm39) |
E25K |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation