Incidental Mutation 'R7249:Gfpt1'
| ID |
563752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfpt1
|
| Ensembl Gene |
ENSMUSG00000029992 |
| Gene Name |
glutamine fructose-6-phosphate transaminase 1 |
| Synonyms |
2810423A18Rik, GFAT1, GFA, GFAT |
| MMRRC Submission |
045312-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87019828-87069179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87033126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 117
(E117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000113655]
[ENSMUST00000113657]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032057
AA Change: E117G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: E117G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
Pfam:GATase_6
|
69 |
213 |
1e-18 |
PFAM |
|
Pfam:GATase_4
|
78 |
198 |
2.7e-7 |
PFAM |
|
Pfam:GATase_7
|
93 |
195 |
2.1e-14 |
PFAM |
|
Pfam:SIS
|
378 |
507 |
4.5e-38 |
PFAM |
|
Pfam:SIS
|
549 |
680 |
1.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113655
|
| SMART Domains |
Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_2
|
2 |
65 |
7.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113657
|
| SMART Domains |
Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_2
|
2 |
80 |
1.7e-10 |
PFAM |
|
Pfam:GATase_2
|
76 |
120 |
9.5e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113658
AA Change: E117G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: E117G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_2
|
2 |
78 |
9e-9 |
PFAM |
|
Pfam:GATase_4
|
63 |
191 |
3.2e-10 |
PFAM |
|
Pfam:GATase_6
|
68 |
211 |
3.7e-20 |
PFAM |
|
Pfam:GATase_2
|
76 |
220 |
6.4e-22 |
PFAM |
|
Pfam:GATase_7
|
93 |
194 |
1.7e-15 |
PFAM |
|
Pfam:SIS
|
362 |
491 |
4.5e-36 |
PFAM |
|
Pfam:SIS
|
533 |
664 |
2.3e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,974,970 (GRCm39) |
T38A |
probably benign |
Het |
| 3425401B19Rik |
G |
T |
14: 32,385,271 (GRCm39) |
S231R |
possibly damaging |
Het |
| Abi1 |
T |
C |
2: 22,847,101 (GRCm39) |
E250G |
possibly damaging |
Het |
| Actl6b |
T |
A |
5: 137,553,347 (GRCm39) |
S120T |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,522,378 (GRCm39) |
H5920Y |
probably damaging |
Het |
| Adra2c |
G |
A |
5: 35,438,299 (GRCm39) |
R357H |
probably damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,577,767 (GRCm39) |
D20G |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,506,583 (GRCm39) |
D847E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,864,660 (GRCm39) |
E434G |
probably damaging |
Het |
| Carm1 |
T |
C |
9: 21,497,505 (GRCm39) |
Y356H |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,663 (GRCm39) |
K1075R |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,918 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,113,885 (GRCm39) |
V1769D |
possibly damaging |
Het |
| Dchs2 |
C |
T |
3: 83,035,336 (GRCm39) |
Q28* |
probably null |
Het |
| Dpp4 |
A |
G |
2: 62,215,547 (GRCm39) |
F107L |
probably benign |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,094,485 (GRCm39) |
V105A |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,208,259 (GRCm39) |
D166E |
probably damaging |
Het |
| H2-T10 |
T |
C |
17: 36,430,269 (GRCm39) |
D224G |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,793,865 (GRCm39) |
E332V |
probably benign |
Het |
| Htr5b |
T |
A |
1: 121,438,203 (GRCm39) |
N343Y |
probably damaging |
Het |
| Irf8 |
C |
A |
8: 121,466,571 (GRCm39) |
N5K |
possibly damaging |
Het |
| Itgb1 |
C |
A |
8: 129,446,885 (GRCm39) |
Q467K |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,212,550 (GRCm39) |
C1522F |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,025,596 (GRCm39) |
L138I |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,629,133 (GRCm39) |
R493L |
probably benign |
Het |
| Malrd1 |
G |
T |
2: 15,628,151 (GRCm39) |
C400F |
probably damaging |
Het |
| Marchf8 |
G |
A |
6: 116,383,195 (GRCm39) |
E257K |
probably benign |
Het |
| Mastl |
G |
A |
2: 23,036,151 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mis18a |
T |
C |
16: 90,523,202 (GRCm39) |
K98R |
possibly damaging |
Het |
| Msra |
A |
G |
14: 64,678,212 (GRCm39) |
V28A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,520 (GRCm39) |
V177A |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,264,999 (GRCm39) |
|
probably null |
Het |
| Nemp1 |
T |
C |
10: 127,529,395 (GRCm39) |
S226P |
probably damaging |
Het |
| Nmnat1 |
G |
A |
4: 149,554,099 (GRCm39) |
T147I |
probably null |
Het |
| Ntng2 |
A |
G |
2: 29,118,004 (GRCm39) |
V148A |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,245 (GRCm39) |
H304R |
possibly damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,217 (GRCm39) |
Y180C |
probably damaging |
Het |
| Phldb2 |
C |
A |
16: 45,621,977 (GRCm39) |
A623S |
probably damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,974,773 (GRCm39) |
R429Q |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,849,741 (GRCm39) |
|
probably null |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,887 (GRCm39) |
V227I |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,886 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rbpms2 |
T |
G |
9: 65,556,632 (GRCm39) |
V24G |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,336,129 (GRCm39) |
I446L |
probably benign |
Het |
| Septin8 |
A |
T |
11: 53,425,949 (GRCm39) |
K174I |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Slco4a1 |
A |
G |
2: 180,106,604 (GRCm39) |
Y262C |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Spidr |
T |
C |
16: 15,784,512 (GRCm39) |
S519G |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,132,193 (GRCm39) |
N218S |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,056,270 (GRCm39) |
V381A |
probably benign |
Het |
| Svil |
T |
C |
18: 5,062,247 (GRCm39) |
S769P |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,061,732 (GRCm39) |
C2595S |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,143 (GRCm39) |
Y858C |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,343,425 (GRCm39) |
V146A |
probably benign |
Het |
| Traf3ip1 |
G |
T |
1: 91,455,361 (GRCm39) |
E578D |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,663 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,826,729 (GRCm39) |
W896R |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,125 (GRCm39) |
S2P |
probably benign |
Het |
| Xkr4 |
T |
A |
1: 3,287,033 (GRCm39) |
T386S |
probably damaging |
Het |
| Zdhhc24 |
T |
G |
19: 4,928,889 (GRCm39) |
V38G |
possibly damaging |
Het |
|
| Other mutations in Gfpt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Gfpt1
|
APN |
6 |
87,033,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00946:Gfpt1
|
APN |
6 |
87,027,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Gfpt1
|
APN |
6 |
87,031,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01930:Gfpt1
|
APN |
6 |
87,036,397 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02113:Gfpt1
|
APN |
6 |
87,064,349 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02724:Gfpt1
|
APN |
6 |
87,033,164 (GRCm39) |
nonsense |
probably null |
|
|
IGL03024:Gfpt1
|
APN |
6 |
87,030,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Fatal_flaw
|
UTSW |
6 |
87,030,847 (GRCm39) |
splice site |
probably benign |
|
|
vanity
|
UTSW |
6 |
87,030,787 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0829:Gfpt1
|
UTSW |
6 |
87,030,847 (GRCm39) |
splice site |
probably benign |
|
|
R1779:Gfpt1
|
UTSW |
6 |
87,054,179 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1982:Gfpt1
|
UTSW |
6 |
87,031,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2067:Gfpt1
|
UTSW |
6 |
87,034,736 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2400:Gfpt1
|
UTSW |
6 |
87,064,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Gfpt1
|
UTSW |
6 |
87,034,727 (GRCm39) |
missense |
probably null |
1.00 |
|
R3104:Gfpt1
|
UTSW |
6 |
87,034,628 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3105:Gfpt1
|
UTSW |
6 |
87,034,628 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4738:Gfpt1
|
UTSW |
6 |
87,031,729 (GRCm39) |
intron |
probably benign |
|
|
R5070:Gfpt1
|
UTSW |
6 |
87,030,727 (GRCm39) |
splice site |
probably null |
|
|
R5292:Gfpt1
|
UTSW |
6 |
87,053,237 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5392:Gfpt1
|
UTSW |
6 |
87,054,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5481:Gfpt1
|
UTSW |
6 |
87,027,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Gfpt1
|
UTSW |
6 |
87,019,981 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5666:Gfpt1
|
UTSW |
6 |
87,030,795 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6003:Gfpt1
|
UTSW |
6 |
87,065,230 (GRCm39) |
splice site |
probably null |
|
|
R6031:Gfpt1
|
UTSW |
6 |
87,063,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Gfpt1
|
UTSW |
6 |
87,063,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Gfpt1
|
UTSW |
6 |
87,062,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Gfpt1
|
UTSW |
6 |
87,065,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Gfpt1
|
UTSW |
6 |
87,054,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Gfpt1
|
UTSW |
6 |
87,064,375 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7123:Gfpt1
|
UTSW |
6 |
87,033,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Gfpt1
|
UTSW |
6 |
87,027,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7501:Gfpt1
|
UTSW |
6 |
87,059,508 (GRCm39) |
missense |
probably benign |
|
|
R7502:Gfpt1
|
UTSW |
6 |
87,043,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8244:Gfpt1
|
UTSW |
6 |
87,040,613 (GRCm39) |
intron |
probably benign |
|
|
R8528:Gfpt1
|
UTSW |
6 |
87,043,770 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8864:Gfpt1
|
UTSW |
6 |
87,031,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8910:Gfpt1
|
UTSW |
6 |
87,030,787 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9123:Gfpt1
|
UTSW |
6 |
87,053,248 (GRCm39) |
missense |
probably benign |
|
|
R9125:Gfpt1
|
UTSW |
6 |
87,053,248 (GRCm39) |
missense |
probably benign |
|
|
R9227:Gfpt1
|
UTSW |
6 |
87,027,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Gfpt1
|
UTSW |
6 |
87,062,265 (GRCm39) |
missense |
probably benign |
|
|
R9554:Gfpt1
|
UTSW |
6 |
87,062,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGAGACCACTAGCAGATTAC -3'
(R):5'- CCACTGTCAGCAGAGAAATGC -3'
Sequencing Primer
(F):5'- GCCTGGGCTACATAGTAAAACCTTG -3'
(R):5'- TGAAACGCCACACCCTGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation