Incidental Mutation 'IGL03370:Fggy'
| ID |
420255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fggy
|
| Ensembl Gene |
ENSMUSG00000028573 |
| Gene Name |
FGGY carbohydrate kinase domain containing |
| Synonyms |
2310009E04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
95445744-95815176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95710301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 300
(H300L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043335]
[ENSMUST00000079223]
[ENSMUST00000107091]
[ENSMUST00000130541]
|
| AlphaFold |
A2AJL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043335
|
| SMART Domains |
Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
| 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 |
possibly damaging
Transcript: ENSMUST00000079223
AA Change: H388L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: H388L
| 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 damaging
Transcript: ENSMUST00000107091
AA Change: H300L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: H300L
| 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 |
noncoding transcript
Transcript: ENSMUST00000125742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130541
AA Change: H93L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573
AA Change: H93L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_C
|
1 |
150 |
3.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147766
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156223
AA Change: H29L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118147
Gene: ENSMUSG00000028573
AA Change: H29L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_C
|
6 |
124 |
8.5e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176162
|
| 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 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
A |
G |
4: 56,741,173 (GRCm39) |
Y62H |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,829,881 (GRCm39) |
I296T |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,351,937 (GRCm39) |
|
probably null |
Het |
| Daam2 |
G |
T |
17: 49,793,529 (GRCm39) |
D329E |
probably benign |
Het |
| Defb26 |
A |
G |
2: 152,349,902 (GRCm39) |
V126A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,703,621 (GRCm39) |
I1535N |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,219 (GRCm39) |
Y431N |
probably benign |
Het |
| Fbxw26 |
T |
G |
9: 109,575,087 (GRCm39) |
I13L |
probably damaging |
Het |
| Fndc3c1 |
G |
A |
X: 105,464,307 (GRCm39) |
T1277I |
probably benign |
Het |
| Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,946 (GRCm39) |
R567H |
probably benign |
Het |
| Kpna6 |
G |
A |
4: 129,549,314 (GRCm39) |
T156M |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyn |
T |
C |
4: 3,780,931 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,219 (GRCm39) |
V2605A |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,437,385 (GRCm39) |
D1023G |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,418,514 (GRCm39) |
R3820L |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,230,653 (GRCm39) |
Y1397C |
possibly damaging |
Het |
| Pgd |
A |
T |
4: 149,249,685 (GRCm39) |
V29D |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,071,371 (GRCm39) |
S244G |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,694,294 (GRCm39) |
T372K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,520,306 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,586,944 (GRCm39) |
V2680E |
possibly damaging |
Het |
| Sgsm3 |
A |
C |
15: 80,895,855 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
C |
T |
15: 96,477,228 (GRCm39) |
V362I |
possibly damaging |
Het |
| Sun1 |
T |
A |
5: 139,216,886 (GRCm39) |
D308E |
probably damaging |
Het |
| Tns1 |
C |
T |
1: 74,025,053 (GRCm39) |
V387M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,083 (GRCm39) |
G22937C |
probably damaging |
Het |
| Ubr1 |
C |
A |
2: 120,725,641 (GRCm39) |
A1258S |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,265 (GRCm39) |
F153L |
probably benign |
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 |
|
|
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 |
|
R8199:Fggy
|
UTSW |
4 |
95,700,381 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation