Incidental Mutation 'R5666:Gfpt1'
| ID |
444423 |
| 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 |
043309-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87019828-87069179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87030795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 60
(I60F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000113655]
[ENSMUST00000113657]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032057
AA Change: I60F
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: I60F
| 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 |
silent
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
AA Change: I60F
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
AA Change: I60F
| 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: I60F
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: I60F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150410
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
T |
C |
5: 100,127,068 (GRCm39) |
|
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,416,906 (GRCm39) |
E368D |
probably benign |
Het |
| Becn2 |
C |
T |
1: 175,749,179 (GRCm39) |
T415M |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,384,759 (GRCm39) |
M588K |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,338,433 (GRCm39) |
E503G |
probably benign |
Het |
| Btla |
A |
T |
16: 45,070,782 (GRCm39) |
D247V |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,684,559 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,244,177 (GRCm39) |
E1202G |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,182,457 (GRCm39) |
I3568V |
possibly damaging |
Het |
| Col4a4 |
A |
G |
1: 82,463,300 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
C |
T |
7: 131,656,625 (GRCm39) |
E546K |
probably benign |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,930 (GRCm39) |
V195I |
probably benign |
Het |
| Ddb2 |
C |
T |
2: 91,042,926 (GRCm39) |
V353M |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,519,364 (GRCm39) |
T791I |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,643 (GRCm39) |
L65F |
probably damaging |
Het |
| E2f1 |
T |
A |
2: 154,411,101 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,041,241 (GRCm39) |
N732S |
probably benign |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Foxm1 |
C |
T |
6: 128,350,130 (GRCm39) |
S339L |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,510 (GRCm39) |
R225S |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,793 (GRCm39) |
S453P |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,424,805 (GRCm39) |
T451I |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,275,554 (GRCm39) |
V22E |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 35,087,300 (GRCm39) |
I2V |
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,617,059 (GRCm39) |
V96A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,318,863 (GRCm39) |
T38A |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,250 (GRCm39) |
T353A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,112,178 (GRCm39) |
I1744N |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,246,723 (GRCm39) |
V382A |
possibly damaging |
Het |
| Ndufaf4 |
A |
T |
4: 24,898,636 (GRCm39) |
D64V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,462 (GRCm39) |
T213A |
probably benign |
Het |
| Nkain4 |
A |
G |
2: 180,584,995 (GRCm39) |
L73P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,949,041 (GRCm39) |
R299* |
probably null |
Het |
| Or1j20 |
T |
A |
2: 36,760,401 (GRCm39) |
D274E |
probably benign |
Het |
| Or2y8 |
A |
C |
11: 52,035,525 (GRCm39) |
Y277* |
probably null |
Het |
| Or4b12 |
T |
C |
2: 90,096,308 (GRCm39) |
I155M |
probably benign |
Het |
| Or5k1 |
G |
A |
16: 58,617,424 (GRCm39) |
P262S |
possibly damaging |
Het |
| Padi2 |
G |
T |
4: 140,676,542 (GRCm39) |
R560L |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,750 (GRCm39) |
N249S |
possibly damaging |
Het |
| Pde1c |
A |
C |
6: 56,103,842 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,334,156 (GRCm39) |
S410P |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,078 (GRCm39) |
M456V |
probably damaging |
Het |
| Pla2g2d |
T |
A |
4: 138,507,591 (GRCm39) |
C82S |
probably damaging |
Het |
| Rgs21 |
A |
G |
1: 144,412,680 (GRCm39) |
V48A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,836 (GRCm39) |
V506L |
probably damaging |
Het |
| Slc7a4 |
A |
G |
16: 17,393,815 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
C |
G |
2: 119,916,048 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
T |
A |
11: 113,515,539 (GRCm39) |
W153R |
probably damaging |
Het |
| Steap2 |
C |
T |
5: 5,723,681 (GRCm39) |
V400I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,997,733 (GRCm39) |
G2236D |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,342 (GRCm39) |
N151S |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,352,518 (GRCm39) |
S13P |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,253 (GRCm39) |
I456V |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,536 (GRCm39) |
F946S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,146,910 (GRCm39) |
Y459* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,858,922 (GRCm39) |
L13P |
probably damaging |
Het |
| Zfp648 |
C |
A |
1: 154,079,963 (GRCm39) |
Q41K |
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 |
|
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 |
|
|
R9554:Gfpt1
|
UTSW |
6 |
87,062,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGGATTGAGTGCTCCTC -3'
(R):5'- GATCGTATTTTGAAGCTCAGGAAC -3'
Sequencing Primer
(F):5'- TTTGAACACAAGGCCCTGTG -3'
(R):5'- TTGAAGCTCAGGAACAATTTAAACCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation