Incidental Mutation 'IGL00946:Gfpt1'
| ID |
27652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfpt1
|
| Ensembl Gene |
ENSMUSG00000029992 |
| Gene Name |
glutamine fructose-6-phosphate transaminase 1 |
| Synonyms |
2810423A18Rik, GFAT1, GFA, GFAT |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87019828-87069179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87027924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 10
(Y10C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000113655]
[ENSMUST00000113657]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032057
AA Change: Y10C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: Y10C
| 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: Y10C
|
| SMART Domains |
Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992
AA Change: Y10C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_2
|
2 |
65 |
7.8e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113657
AA Change: Y10C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
AA Change: Y10C
| 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 damaging
Transcript: ENSMUST00000113658
AA Change: Y10C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: Y10C
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,790,373 (GRCm39) |
I538T |
probably benign |
Het |
| Bmp10 |
A |
T |
6: 87,411,344 (GRCm39) |
Q379L |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,248,876 (GRCm39) |
A446T |
possibly damaging |
Het |
| Chrdl1 |
G |
A |
X: 142,077,164 (GRCm39) |
|
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,112 (GRCm39) |
H370R |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,461,434 (GRCm39) |
T698A |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,534 (GRCm39) |
T593A |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,684,701 (GRCm39) |
T157A |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,902,897 (GRCm39) |
N151S |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,324,002 (GRCm39) |
H448Q |
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,673,121 (GRCm39) |
D221G |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,139,898 (GRCm39) |
G996S |
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,684,699 (GRCm39) |
|
probably benign |
Het |
| Ghitm |
C |
T |
14: 36,847,203 (GRCm39) |
M290I |
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,158,096 (GRCm39) |
|
probably null |
Het |
| Htr2a |
T |
A |
14: 74,943,582 (GRCm39) |
Y387* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,866,993 (GRCm39) |
Q916L |
probably benign |
Het |
| Mfsd9 |
A |
C |
1: 40,812,940 (GRCm39) |
D458E |
probably benign |
Het |
| Nmb |
T |
C |
7: 80,552,208 (GRCm39) |
I123M |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,329,058 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,190 (GRCm39) |
D270E |
probably benign |
Het |
| Or4d5 |
A |
G |
9: 40,012,450 (GRCm39) |
I112T |
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,489 (GRCm39) |
M306K |
probably benign |
Het |
| Pola1 |
T |
C |
X: 92,524,145 (GRCm39) |
I1165M |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Selenon |
T |
A |
4: 134,267,037 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
T |
A |
2: 68,144,908 (GRCm39) |
T389S |
possibly damaging |
Het |
| Tmx3 |
A |
G |
18: 90,558,178 (GRCm39) |
E410G |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,177 (GRCm39) |
V2660E |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,175,932 (GRCm39) |
L40P |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,990,953 (GRCm39) |
S380F |
possibly damaging |
Het |
| Xpo7 |
T |
C |
14: 70,909,098 (GRCm39) |
T808A |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,726,142 (GRCm39) |
|
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 |
|
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 |
|
|
R9554:Gfpt1
|
UTSW |
6 |
87,062,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation