Incidental Mutation 'R4154:Gfpt2'
ID |
315050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfpt2
|
Ensembl Gene |
ENSMUSG00000020363 |
Gene Name |
glutamine fructose-6-phosphate transaminase 2 |
Synonyms |
GFAT2 |
MMRRC Submission |
040998-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4154 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49685005-49729440 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 49726605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020629]
|
AlphaFold |
Q9Z2Z9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020629
|
SMART Domains |
Protein: ENSMUSP00000020629 Gene: ENSMUSG00000020363
Domain | Start | End | E-Value | Type |
Pfam:GATase_6
|
72 |
212 |
1e-19 |
PFAM |
Pfam:GATase_4
|
75 |
206 |
1.6e-7 |
PFAM |
Pfam:GATase_7
|
90 |
209 |
8.2e-16 |
PFAM |
Pfam:SIS
|
363 |
492 |
1.7e-38 |
PFAM |
Pfam:SIS
|
534 |
665 |
1.2e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI593442 |
A |
T |
9: 52,589,204 (GRCm39) |
H124Q |
probably benign |
Het |
Asph |
C |
T |
4: 9,639,250 (GRCm39) |
W38* |
probably null |
Het |
Bicdl2 |
A |
G |
17: 23,885,066 (GRCm39) |
|
probably null |
Het |
Chd8 |
T |
C |
14: 52,444,668 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
Cptp |
A |
G |
4: 155,951,657 (GRCm39) |
V12A |
possibly damaging |
Het |
Crim1 |
A |
G |
17: 78,545,272 (GRCm39) |
I145V |
probably benign |
Het |
Ctsc |
G |
A |
7: 87,948,755 (GRCm39) |
M195I |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Fas |
T |
G |
19: 34,296,228 (GRCm39) |
I180S |
possibly damaging |
Het |
Fsip2 |
A |
C |
2: 82,817,413 (GRCm39) |
E4382A |
possibly damaging |
Het |
Galnt5 |
T |
G |
2: 57,888,505 (GRCm39) |
L35R |
probably damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gm14496 |
A |
T |
2: 181,636,872 (GRCm39) |
H110L |
probably benign |
Het |
Golm1 |
A |
G |
13: 59,790,167 (GRCm39) |
V211A |
probably benign |
Het |
Gsc2 |
TGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAG |
16: 17,732,666 (GRCm39) |
|
probably benign |
Het |
Ighv1-72 |
A |
T |
12: 115,722,017 (GRCm39) |
M7K |
probably benign |
Het |
Igkv12-44 |
C |
T |
6: 69,791,639 (GRCm39) |
C108Y |
possibly damaging |
Het |
Lum |
T |
C |
10: 97,404,815 (GRCm39) |
S237P |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,606 (GRCm39) |
K3052E |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,707,475 (GRCm39) |
E1588G |
probably damaging |
Het |
Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
Nucb2 |
A |
G |
7: 116,126,902 (GRCm39) |
T172A |
probably benign |
Het |
Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
Pard3 |
G |
T |
8: 128,200,877 (GRCm39) |
R978L |
probably damaging |
Het |
Pcdha4 |
A |
G |
18: 37,086,639 (GRCm39) |
|
probably null |
Het |
Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
Pik3c3 |
G |
A |
18: 30,444,336 (GRCm39) |
M516I |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,043,845 (GRCm39) |
F1336L |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sipa1l1 |
G |
C |
12: 82,471,988 (GRCm39) |
G1323R |
possibly damaging |
Het |
Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
Spef2 |
T |
C |
15: 9,626,107 (GRCm39) |
K1153R |
probably benign |
Het |
Strn3 |
C |
T |
12: 51,673,914 (GRCm39) |
V566M |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,069,068 (GRCm39) |
F2906S |
possibly damaging |
Het |
Tbc1d8 |
C |
T |
1: 39,425,216 (GRCm39) |
V545M |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,752,595 (GRCm39) |
S157P |
probably benign |
Het |
Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
Vat1l |
G |
C |
8: 114,932,543 (GRCm39) |
G30R |
possibly damaging |
Het |
Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
probably benign |
Het |
|
Other mutations in Gfpt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00934:Gfpt2
|
APN |
11 |
49,699,950 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01451:Gfpt2
|
APN |
11 |
49,698,517 (GRCm39) |
splice site |
probably benign |
|
IGL01490:Gfpt2
|
APN |
11 |
49,717,954 (GRCm39) |
splice site |
probably benign |
|
IGL01550:Gfpt2
|
APN |
11 |
49,715,150 (GRCm39) |
splice site |
probably null |
|
IGL01552:Gfpt2
|
APN |
11 |
49,695,832 (GRCm39) |
nonsense |
probably null |
|
IGL02349:Gfpt2
|
APN |
11 |
49,698,530 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02815:Gfpt2
|
APN |
11 |
49,714,084 (GRCm39) |
missense |
possibly damaging |
0.89 |
plethora
|
UTSW |
11 |
49,715,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Gfpt2
|
UTSW |
11 |
49,720,602 (GRCm39) |
missense |
probably benign |
0.06 |
R0539:Gfpt2
|
UTSW |
11 |
49,723,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1055:Gfpt2
|
UTSW |
11 |
49,718,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R1178:Gfpt2
|
UTSW |
11 |
49,714,136 (GRCm39) |
missense |
probably benign |
0.42 |
R1340:Gfpt2
|
UTSW |
11 |
49,723,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R2372:Gfpt2
|
UTSW |
11 |
49,698,542 (GRCm39) |
missense |
probably benign |
0.00 |
R4476:Gfpt2
|
UTSW |
11 |
49,715,169 (GRCm39) |
missense |
probably benign |
0.17 |
R4679:Gfpt2
|
UTSW |
11 |
49,714,564 (GRCm39) |
missense |
probably benign |
0.00 |
R4863:Gfpt2
|
UTSW |
11 |
49,701,797 (GRCm39) |
missense |
probably benign |
0.06 |
R5113:Gfpt2
|
UTSW |
11 |
49,714,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R5509:Gfpt2
|
UTSW |
11 |
49,717,973 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5830:Gfpt2
|
UTSW |
11 |
49,699,888 (GRCm39) |
missense |
probably benign |
0.03 |
R6435:Gfpt2
|
UTSW |
11 |
49,726,478 (GRCm39) |
missense |
probably benign |
0.00 |
R7079:Gfpt2
|
UTSW |
11 |
49,728,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7135:Gfpt2
|
UTSW |
11 |
49,695,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R7261:Gfpt2
|
UTSW |
11 |
49,714,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7294:Gfpt2
|
UTSW |
11 |
49,709,435 (GRCm39) |
nonsense |
probably null |
|
R7384:Gfpt2
|
UTSW |
11 |
49,701,817 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7778:Gfpt2
|
UTSW |
11 |
49,715,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7806:Gfpt2
|
UTSW |
11 |
49,714,142 (GRCm39) |
missense |
probably benign |
|
R7824:Gfpt2
|
UTSW |
11 |
49,715,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R8245:Gfpt2
|
UTSW |
11 |
49,714,785 (GRCm39) |
missense |
probably benign |
0.01 |
R8262:Gfpt2
|
UTSW |
11 |
49,714,607 (GRCm39) |
missense |
probably benign |
0.02 |
R8437:Gfpt2
|
UTSW |
11 |
49,695,694 (GRCm39) |
intron |
probably benign |
|
R8791:Gfpt2
|
UTSW |
11 |
49,714,043 (GRCm39) |
missense |
probably benign |
0.01 |
R9072:Gfpt2
|
UTSW |
11 |
49,714,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCGCCCAATCATACTGTG -3'
(R):5'- CGTTGCACCTAACACGTTCATAAAG -3'
Sequencing Primer
(F):5'- TGTGTTCCAAGGATGACACC -3'
(R):5'- CCCTGAGCCCATAACTATG -3'
|
Posted On |
2015-05-14 |