Incidental Mutation 'R6589:Fggy'
| ID |
524500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fggy
|
| Ensembl Gene |
ENSMUSG00000028573 |
| Gene Name |
FGGY carbohydrate kinase domain containing |
| Synonyms |
2310009E04Rik |
| MMRRC Submission |
044713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
95445744-95815176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95485875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 74
(I74V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043335]
[ENSMUST00000079223]
[ENSMUST00000107091]
[ENSMUST00000131654]
[ENSMUST00000134012]
[ENSMUST00000150830]
[ENSMUST00000177394]
|
| AlphaFold |
A2AJL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043335
AA Change: I74V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: I74V
| 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: I74V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: I74V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
| 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: ENSMUST00000131654
|
| SMART Domains |
Protein: ENSMUSP00000116264
Gene: ENSMUSG00000028573
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
12 |
82 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134012
|
| SMART Domains |
Protein: ENSMUSP00000115859
Gene: ENSMUSG00000028573
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bu6o1
|
20 |
107 |
6e-8 |
SMART |
|
PDB:3L0Q|B
|
25 |
110 |
2e-24 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150830
AA Change: I74V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000115546
Gene: ENSMUSG00000028573
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
12 |
79 |
2.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177394
AA Change: I74V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134881
Gene: ENSMUSG00000028573
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
12 |
77 |
3.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176840
|
| Meta Mutation Damage Score |
0.0791 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (26/26) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
| Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,523,789 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
| Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
| Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
| Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
| Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
| Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
| Lpl |
G |
T |
8: 69,349,459 (GRCm39) |
M328I |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
| Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Myoc |
T |
A |
1: 162,476,188 (GRCm39) |
Y297* |
probably null |
Het |
| Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
| Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
| Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
| Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,022 (GRCm39) |
S142T |
possibly damaging |
Het |
| Zfp358 |
T |
A |
8: 3,545,907 (GRCm39) |
F163Y |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGACACACAGCATTACATG -3'
(R):5'- TGTTCAGTTGATACTAATACCCGGG -3'
Sequencing Primer
(F):5'- TGGACACACAGCATTACATGATAAAG -3'
(R):5'- AGACCAGACAATATGGACTACTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation