Incidental Mutation 'R7374:Gfpt1'
| ID |
572267 |
| 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 |
045457-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7374 (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 87027959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 22
(T22A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000113655]
[ENSMUST00000113657]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032057
AA Change: T22A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: T22A
| 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 |
unknown
Transcript: ENSMUST00000113655
AA Change: T22A
|
| SMART Domains |
Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992
AA Change: T22A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_2
|
2 |
65 |
7.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113657
AA Change: T22A
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
AA Change: T22A
| 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 |
probably benign
Transcript: ENSMUST00000113658
AA Change: T22A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: T22A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,242,136 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Abcd4 |
A |
T |
12: 84,653,017 (GRCm39) |
L395* |
probably null |
Het |
| Cdh23 |
G |
A |
10: 60,153,679 (GRCm39) |
R2304W |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,126,883 (GRCm39) |
T432A |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,731 (GRCm39) |
W2792R |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,648 (GRCm39) |
|
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,804,998 (GRCm39) |
T580K |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,241,094 (GRCm39) |
D112V |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,519,465 (GRCm39) |
N25S |
probably damaging |
Het |
| Gas6 |
A |
T |
8: 13,524,802 (GRCm39) |
V330D |
probably damaging |
Het |
| Gm3371 |
A |
G |
14: 44,641,240 (GRCm39) |
V108A |
|
Het |
| Gm8257 |
T |
C |
14: 44,887,740 (GRCm39) |
E215G |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,080,634 (GRCm39) |
S206T |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,648,383 (GRCm39) |
T118A |
probably benign |
Het |
| Hfe |
T |
G |
13: 23,890,030 (GRCm39) |
T248P |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 941,491 (GRCm39) |
W1231R |
probably benign |
Het |
| Ltbp2 |
C |
T |
12: 84,876,949 (GRCm39) |
D419N |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,980,109 (GRCm39) |
A232T |
|
Het |
| Mgam |
G |
A |
6: 40,734,373 (GRCm39) |
E1473K |
possibly damaging |
Het |
| Mtbp |
A |
C |
15: 55,426,355 (GRCm39) |
E99A |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,416,863 (GRCm39) |
T3270S |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,239,726 (GRCm39) |
Y28C |
|
Het |
| Nrxn1 |
A |
G |
17: 90,896,097 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
A |
G |
10: 93,518,434 (GRCm39) |
H247R |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,658,335 (GRCm39) |
V1568A |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,791 (GRCm39) |
G414D |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,946,095 (GRCm39) |
F31S |
probably damaging |
Het |
| Or8k25 |
C |
A |
2: 86,244,196 (GRCm39) |
A67S |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,204,780 (GRCm39) |
V547I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,962 (GRCm39) |
M223L |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,424 (GRCm39) |
S180P |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,471,235 (GRCm39) |
R1014W |
probably damaging |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Rhbdl2 |
G |
C |
4: 123,711,658 (GRCm39) |
V132L |
probably benign |
Het |
| Slc15a2 |
G |
T |
16: 36,572,207 (GRCm39) |
T719K |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,937,542 (GRCm39) |
T465A |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,125,644 (GRCm39) |
H364Q |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,354,533 (GRCm39) |
L401Q |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,300 (GRCm39) |
Y98C |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,639 (GRCm39) |
C195S |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,315,815 (GRCm39) |
Y191H |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,381,305 (GRCm39) |
I839V |
probably benign |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,118 (GRCm39) |
I141F |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,160 (GRCm39) |
H200R |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,881,607 (GRCm39) |
M491K |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,630 (GRCm39) |
I239V |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,758,939 (GRCm39) |
C1006W |
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 |
|
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'- ATAGGATATAGCCCACAAGTTTGC -3'
(R):5'- GACATTCACAAACCCTTTAGACATG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCAAACACAAATTAAGTCTCCT -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation