Incidental Mutation 'R9554:Gfpt1'
| ID |
720654 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87019828-87069179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87062323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 561
(R561W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032057
AA Change: R561W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: R561W
| 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 damaging
Transcript: ENSMUST00000113658
AA Change: R545W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: R545W
| 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: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,107 (GRCm39) |
E817G |
probably benign |
Het |
| Abhd12b |
A |
G |
12: 70,215,988 (GRCm39) |
T182A |
probably benign |
Het |
| Allc |
A |
T |
12: 28,607,414 (GRCm39) |
C279* |
probably null |
Het |
| Ang |
A |
G |
14: 51,338,976 (GRCm39) |
D39G |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,360,197 (GRCm39) |
T958M |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,784,900 (GRCm39) |
R191K |
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,750 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,668,169 (GRCm39) |
S321R |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,251,015 (GRCm39) |
W616R |
probably damaging |
Het |
| Cyp17a1 |
C |
T |
19: 46,657,165 (GRCm39) |
R361H |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcp1a |
A |
G |
14: 30,201,691 (GRCm39) |
Q38R |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,507,560 (GRCm39) |
N785S |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,122,076 (GRCm39) |
N1133S |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,645,614 (GRCm39) |
Y877* |
probably null |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Fam120b |
G |
A |
17: 15,626,020 (GRCm39) |
A458T |
possibly damaging |
Het |
| Fgd4 |
G |
A |
16: 16,308,353 (GRCm39) |
T9I |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,038,915 (GRCm39) |
R108L |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,340 (GRCm39) |
D4G |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,882,470 (GRCm39) |
T108S |
probably damaging |
Het |
| Hivep1 |
G |
A |
13: 42,308,251 (GRCm39) |
D164N |
possibly damaging |
Het |
| Kif15 |
G |
T |
9: 122,828,585 (GRCm39) |
L902F |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,261,497 (GRCm39) |
R4481S |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,332,310 (GRCm39) |
V1209A |
probably damaging |
Het |
| Mkrn1 |
C |
T |
6: 39,376,838 (GRCm39) |
R377H |
probably benign |
Het |
| Ms4a4a |
G |
A |
19: 11,367,708 (GRCm39) |
M191I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,018,580 (GRCm39) |
N1922I |
|
Het |
| Nbeal1 |
C |
T |
1: 60,290,287 (GRCm39) |
Q998* |
probably null |
Het |
| Neil3 |
C |
A |
8: 54,061,770 (GRCm39) |
G204C |
probably damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,066,994 (GRCm39) |
E262G |
possibly damaging |
Het |
| Oc90 |
G |
A |
15: 65,761,437 (GRCm39) |
P194S |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,193,787 (GRCm39) |
S57P |
probably benign |
Het |
| Or10u4 |
A |
T |
10: 129,802,181 (GRCm39) |
F123L |
probably benign |
Het |
| Or1x6 |
T |
A |
11: 50,939,223 (GRCm39) |
Y96* |
probably null |
Het |
| Or2aj4 |
T |
A |
16: 19,384,722 (GRCm39) |
I304F |
possibly damaging |
Het |
| Or4a73 |
C |
A |
2: 89,420,710 (GRCm39) |
V250F |
probably damaging |
Het |
| Or4d5 |
T |
A |
9: 40,012,160 (GRCm39) |
M209L |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,774 (GRCm39) |
I199N |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,994,365 (GRCm39) |
T13A |
probably benign |
Het |
| Or8g28 |
A |
C |
9: 39,169,756 (GRCm39) |
F71V |
possibly damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,333,574 (GRCm39) |
L149Q |
probably damaging |
Het |
| Pid1 |
A |
G |
1: 84,137,032 (GRCm39) |
V33A |
probably benign |
Het |
| Polr3gl |
A |
G |
3: 96,489,037 (GRCm39) |
V60A |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,317,242 (GRCm39) |
V527A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,671 (GRCm39) |
I385M |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,599 (GRCm39) |
S1338N |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,006 (GRCm39) |
T389A |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
| Slx4 |
C |
A |
16: 3,805,820 (GRCm39) |
M577I |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,151,577 (GRCm39) |
S2092P |
probably damaging |
Het |
| Traf6 |
T |
A |
2: 101,518,953 (GRCm39) |
H147Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,547,693 (GRCm39) |
E32159V |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,888,492 (GRCm39) |
S154P |
unknown |
Het |
| Uchl1 |
T |
A |
5: 66,833,649 (GRCm39) |
M6K |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,989 (GRCm39) |
M1K |
probably null |
Het |
| Zfp429 |
T |
A |
13: 67,538,531 (GRCm39) |
K304N |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,464 (GRCm39) |
S307T |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCCATGTGTTAAGGGAATTTC -3'
(R):5'- CACACTCACTCACTTGAATGGC -3'
Sequencing Primer
(F):5'- CCATGTGTTAAGGGAATTTCATACTG -3'
(R):5'- GCAAGGCTCAGTGATATAGTGATTAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation