Incidental Mutation 'R8199:Fggy'
ID |
635580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fggy
|
Ensembl Gene |
ENSMUSG00000028573 |
Gene Name |
FGGY carbohydrate kinase domain containing |
Synonyms |
2310009E04Rik |
MMRRC Submission |
067622-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8199 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
95445744-95815176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 95700381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 351
(E351K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043335]
[ENSMUST00000079223]
[ENSMUST00000107091]
[ENSMUST00000130541]
[ENSMUST00000131654]
|
AlphaFold |
A2AJL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043335
AA Change: E351K
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000043460 Gene: ENSMUSG00000028573 AA Change: E351K
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
12 |
268 |
1.7e-29 |
PFAM |
Pfam:FGGY_C
|
290 |
373 |
1.9e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079223
AA Change: E351K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000078216 Gene: ENSMUSG00000028573 AA Change: E351K
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
12 |
268 |
3.3e-27 |
PFAM |
Pfam:FGGY_C
|
290 |
498 |
1.1e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107091
AA Change: E263K
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102706 Gene: ENSMUSG00000028573 AA Change: E263K
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
12 |
78 |
1.7e-10 |
PFAM |
Pfam:FGGY_C
|
202 |
410 |
1.5e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130541
AA Change: E56K
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115688 Gene: ENSMUSG00000028573 AA Change: E56K
Domain | Start | End | E-Value | Type |
Pfam:FGGY_C
|
1 |
150 |
3.3e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131654
|
SMART Domains |
Protein: ENSMUSP00000116264 Gene: ENSMUSG00000028573
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
12 |
82 |
1.6e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
Het |
|
Other mutations in Fggy |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Fggy
|
APN |
4 |
95,725,865 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02377:Fggy
|
APN |
4 |
95,511,714 (GRCm39) |
unclassified |
probably benign |
|
IGL02417:Fggy
|
APN |
4 |
95,737,846 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02527:Fggy
|
APN |
4 |
95,585,306 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Fggy
|
APN |
4 |
95,814,986 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03053:Fggy
|
APN |
4 |
95,815,046 (GRCm39) |
unclassified |
probably benign |
|
IGL03168:Fggy
|
APN |
4 |
95,815,046 (GRCm39) |
unclassified |
probably benign |
|
IGL03370:Fggy
|
APN |
4 |
95,710,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0164:Fggy
|
UTSW |
4 |
95,725,891 (GRCm39) |
missense |
probably damaging |
0.97 |
R0164:Fggy
|
UTSW |
4 |
95,725,891 (GRCm39) |
missense |
probably damaging |
0.97 |
R0312:Fggy
|
UTSW |
4 |
95,732,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R0520:Fggy
|
UTSW |
4 |
95,489,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R0747:Fggy
|
UTSW |
4 |
95,700,337 (GRCm39) |
splice site |
probably benign |
|
R0940:Fggy
|
UTSW |
4 |
95,585,238 (GRCm39) |
missense |
probably benign |
0.40 |
R1513:Fggy
|
UTSW |
4 |
95,790,295 (GRCm39) |
intron |
probably benign |
|
R1746:Fggy
|
UTSW |
4 |
95,814,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R2998:Fggy
|
UTSW |
4 |
95,737,822 (GRCm39) |
missense |
probably benign |
0.01 |
R3848:Fggy
|
UTSW |
4 |
95,489,361 (GRCm39) |
unclassified |
probably benign |
|
R4913:Fggy
|
UTSW |
4 |
95,585,313 (GRCm39) |
critical splice donor site |
probably null |
|
R5458:Fggy
|
UTSW |
4 |
95,814,980 (GRCm39) |
missense |
probably benign |
|
R5868:Fggy
|
UTSW |
4 |
95,585,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R6583:Fggy
|
UTSW |
4 |
95,489,210 (GRCm39) |
missense |
probably benign |
0.01 |
R6589:Fggy
|
UTSW |
4 |
95,485,875 (GRCm39) |
missense |
probably benign |
0.00 |
R7332:Fggy
|
UTSW |
4 |
95,511,719 (GRCm39) |
missense |
probably damaging |
0.98 |
R7359:Fggy
|
UTSW |
4 |
95,657,717 (GRCm39) |
missense |
probably benign |
0.40 |
R7453:Fggy
|
UTSW |
4 |
95,485,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R7603:Fggy
|
UTSW |
4 |
95,657,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R7806:Fggy
|
UTSW |
4 |
95,489,203 (GRCm39) |
missense |
probably benign |
0.02 |
R8072:Fggy
|
UTSW |
4 |
95,732,394 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8348:Fggy
|
UTSW |
4 |
95,732,427 (GRCm39) |
missense |
probably benign |
0.11 |
R8430:Fggy
|
UTSW |
4 |
95,815,002 (GRCm39) |
utr 3 prime |
probably benign |
|
R8448:Fggy
|
UTSW |
4 |
95,732,427 (GRCm39) |
missense |
probably benign |
0.11 |
R8503:Fggy
|
UTSW |
4 |
95,790,295 (GRCm39) |
intron |
probably benign |
|
R8682:Fggy
|
UTSW |
4 |
95,700,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R9044:Fggy
|
UTSW |
4 |
95,732,334 (GRCm39) |
missense |
probably benign |
0.30 |
R9059:Fggy
|
UTSW |
4 |
95,688,841 (GRCm39) |
nonsense |
probably null |
|
X0067:Fggy
|
UTSW |
4 |
95,585,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACGCTCCTGCTCTAAAATTTG -3'
(R):5'- TTGCTCATCCATGCAATCTGTG -3'
Sequencing Primer
(F):5'- ACGCTCCTGCTCTAAAATTTGTCTTG -3'
(R):5'- ATGCCACTCATTCATCCAC -3'
|
Posted On |
2020-07-13 |