Incidental Mutation 'R5292:Gfpt1'
| ID |
405197 |
| 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 |
042875-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87019828-87069179 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 87053237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032057]
[ENSMUST00000032057]
[ENSMUST00000113658]
[ENSMUST00000113658]
|
| AlphaFold |
P47856 |
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146410
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,354,467 (GRCm39) |
V641A |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,912 (GRCm39) |
M1465L |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,407,933 (GRCm39) |
|
probably null |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,842,185 (GRCm39) |
Y433C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,358 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,439,159 (GRCm39) |
Y1241C |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,510,376 (GRCm39) |
V296A |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,873,685 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcm1 |
T |
C |
9: 77,968,708 (GRCm39) |
F136S |
probably damaging |
Het |
| Gm5174 |
G |
T |
10: 86,492,562 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,294,037 (GRCm39) |
T648A |
probably benign |
Het |
| Hr |
C |
A |
14: 70,809,432 (GRCm39) |
Q1177K |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,199 (GRCm39) |
S3146P |
unknown |
Het |
| Igkv10-94 |
C |
T |
6: 68,681,582 (GRCm39) |
G86E |
probably damaging |
Het |
| Krt80 |
G |
A |
15: 101,250,066 (GRCm39) |
R222W |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,796,177 (GRCm39) |
Y354H |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,902 (GRCm39) |
N142K |
possibly damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,877 (GRCm39) |
F254Y |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,339 (GRCm39) |
N43Y |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,958,779 (GRCm39) |
D932G |
probably benign |
Het |
| Pakap |
T |
G |
4: 57,855,356 (GRCm39) |
S471R |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,393 (GRCm39) |
E368G |
probably benign |
Het |
| Peg3 |
T |
A |
7: 6,711,259 (GRCm39) |
D1321V |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,392,962 (GRCm39) |
I1766F |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,881,745 (GRCm39) |
E1303G |
probably damaging |
Het |
| Ppie |
A |
G |
4: 123,033,701 (GRCm39) |
Y9H |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,581 (GRCm39) |
N1557S |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,657,924 (GRCm39) |
F577L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,449,432 (GRCm39) |
Y3826C |
probably damaging |
Het |
| Slc32a1 |
A |
G |
2: 158,453,307 (GRCm39) |
D49G |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,150,453 (GRCm39) |
C167* |
probably null |
Het |
| Slc5a1 |
G |
T |
5: 33,315,585 (GRCm39) |
V535F |
probably benign |
Het |
| Smoc2 |
A |
G |
17: 14,556,835 (GRCm39) |
K95E |
probably damaging |
Het |
| Smok3c |
A |
C |
5: 138,063,446 (GRCm39) |
Q311P |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,139,521 (GRCm39) |
P628Q |
probably benign |
Het |
| Spint4 |
T |
C |
2: 164,542,779 (GRCm39) |
L124S |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,626 (GRCm39) |
K1961R |
probably benign |
Het |
| Synpo2 |
C |
A |
3: 122,907,709 (GRCm39) |
V536L |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,880,539 (GRCm39) |
K146E |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,275,460 (GRCm39) |
D2245G |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,971,678 (GRCm39) |
S81P |
probably damaging |
Het |
| Zfp39 |
T |
C |
11: 58,791,415 (GRCm39) |
T91A |
probably damaging |
Het |
| Zfp764l1 |
T |
C |
7: 126,991,659 (GRCm39) |
D97G |
possibly damaging |
Het |
| Zfp936 |
T |
A |
7: 42,838,759 (GRCm39) |
Y75* |
probably null |
Het |
| Zkscan5 |
G |
T |
5: 145,155,451 (GRCm39) |
C374F |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGGTTTCCAAATGTATGCCTTG -3'
(R):5'- GTCAGTTTAAAAGATAGGGTTGGC -3'
Sequencing Primer
(F):5'- CCAAATGTATGCCTTGTTTTTCTGTG -3'
(R):5'- AGGGTTGGCTTATTAGGAAACTTGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation