Incidental Mutation 'R8244:Gfpt1'
| ID |
652046 |
| 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 |
067672-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8244 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87019828-87069179 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 87040613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032057
|
| SMART Domains |
Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
| 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: ENSMUST00000113658
|
| SMART Domains |
Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
C |
7: 27,271,004 (GRCm39) |
I133T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Alg5 |
A |
G |
3: 54,646,221 (GRCm39) |
I29V |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,690,183 (GRCm39) |
I1216T |
probably benign |
Het |
| Ap5z1 |
A |
T |
5: 142,459,735 (GRCm39) |
T462S |
possibly damaging |
Het |
| Apc2 |
A |
T |
10: 80,151,166 (GRCm39) |
R2073S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,060,548 (GRCm39) |
E3010V |
probably damaging |
Het |
| Arid3c |
T |
G |
4: 41,729,997 (GRCm39) |
E66A |
possibly damaging |
Het |
| Atf7 |
A |
G |
15: 102,437,301 (GRCm39) |
S54P |
unknown |
Het |
| Cbx3 |
C |
T |
6: 51,452,350 (GRCm39) |
T55I |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,372,916 (GRCm39) |
F205I |
possibly damaging |
Het |
| Cramp1 |
T |
A |
17: 25,190,384 (GRCm39) |
I1117F |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,796,578 (GRCm39) |
*935Q |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,586,280 (GRCm39) |
F511I |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,687,217 (GRCm39) |
R15H |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,124,238 (GRCm39) |
D385G |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gm21680 |
T |
C |
5: 26,173,983 (GRCm39) |
E207G |
probably damaging |
Het |
| Igsf23 |
A |
T |
7: 19,675,798 (GRCm39) |
C141S |
possibly damaging |
Het |
| Ktn1 |
A |
T |
14: 47,912,280 (GRCm39) |
E349V |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,396,794 (GRCm39) |
D424G |
|
Het |
| Lrrc9 |
A |
G |
12: 72,546,384 (GRCm39) |
I1190V |
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,541,514 (GRCm39) |
I102F |
probably damaging |
Het |
| Mapk11 |
G |
T |
15: 89,030,007 (GRCm39) |
T203K |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,727,520 (GRCm39) |
I1315N |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,331,750 (GRCm39) |
M695T |
probably benign |
Het |
| Pdcd4 |
A |
G |
19: 53,895,965 (GRCm39) |
T8A |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,854 (GRCm39) |
Y480H |
probably damaging |
Het |
| Ptx4 |
A |
G |
17: 25,341,839 (GRCm39) |
K105E |
possibly damaging |
Het |
| Pxn |
C |
T |
5: 115,690,302 (GRCm39) |
P381L |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,276 (GRCm39) |
L236P |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sh2b2 |
G |
T |
5: 136,256,291 (GRCm39) |
S247* |
probably null |
Het |
| Sim2 |
T |
A |
16: 93,910,222 (GRCm39) |
V208E |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,548 (GRCm39) |
L247P |
probably damaging |
Het |
| Sox1 |
GGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGG |
8: 12,446,468 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,406 (GRCm39) |
D1937G |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,974 (GRCm39) |
N1158S |
probably benign |
Het |
| Tns1 |
G |
T |
1: 73,976,410 (GRCm39) |
A1146E |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,548,647 (GRCm39) |
E308G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,659,051 (GRCm39) |
K12262* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,917,349 (GRCm39) |
G3731V |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,760,076 (GRCm39) |
E321K |
probably benign |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,933 (GRCm39) |
C259S |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,759 (GRCm39) |
T911A |
probably benign |
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 |
|
R7249:Gfpt1
|
UTSW |
6 |
87,033,126 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- GAATATTCTAGGCCTGATTTGCTG -3'
(R):5'- AAAGACCGCAGCTTCCTTTC -3'
Sequencing Primer
(F):5'- TGCATCATGAGAGTACCTGGTACC -3'
(R):5'- GACCGCAGCTTCCTTTCTTGTC -3'
|
| Posted On |
2020-09-30 |
Incidental Mutation