Incidental Mutation 'R2372:Gfpt2'
| ID |
248177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfpt2
|
| Ensembl Gene |
ENSMUSG00000020363 |
| Gene Name |
glutamine fructose-6-phosphate transaminase 2 |
| Synonyms |
GFAT2 |
| MMRRC Submission |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49685005-49729440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49698542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 46
(N46D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020629]
|
| AlphaFold |
Q9Z2Z9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020629
AA Change: N46D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: N46D
| 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
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
| Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATGGATACGAAGCCTCAG -3'
(R):5'- TTTTCAAGGGTCTATGCGCCAG -3'
Sequencing Primer
(F):5'- GCCTCAGAAAAAGATAGCAAATTGC -3'
(R):5'- GCCAGGCATCACTCTGAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation