Incidental Mutation 'IGL00563:Fuca2'
| ID |
277777 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fuca2
|
| Ensembl Gene |
ENSMUSG00000019810 |
| Gene Name |
fucosidase, alpha-L- 2, plasma |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
IGL00563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
13499540-13519035 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13505907 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 188
(D188V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060212]
[ENSMUST00000120549]
[ENSMUST00000121465]
[ENSMUST00000130865]
|
| AlphaFold |
Q99KR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060212
AA Change: D188V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: D188V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
Alpha_L_fucos
|
27 |
407 |
1.53e-235 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120549
|
| SMART Domains |
Protein: ENSMUSP00000114021
Gene: ENSMUSG00000019810
| Domain | Start | End | E-Value | Type |
|---|
|
Alpha_L_fucos
|
1 |
95 |
1.15e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121465
AA Change: D188V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: D188V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
Alpha_L_fucos
|
27 |
407 |
1.53e-235 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166466
|
| Meta Mutation Damage Score |
0.9192 |
| 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 plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 24,997,621 |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,403,778 |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,519,882 |
|
noncoding transcript |
Het |
| Clstn2 |
A |
G |
9: 97,582,452 |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,153,612 |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,195,620 |
N285S |
possibly damaging |
Het |
| Fktn |
A |
T |
4: 53,747,007 |
|
probably null |
Het |
| Fndc3a |
C |
A |
14: 72,559,357 |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,348,809 |
M1019K |
unknown |
Het |
| Gzmk |
C |
T |
13: 113,173,124 |
V92I |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,752,617 |
R520W |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,965,872 |
V19A |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,595,799 |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 109,656,147 |
V1675A |
possibly damaging |
Het |
| Saxo1 |
C |
T |
4: 86,445,572 |
E225K |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,402,205 |
S383P |
probably damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,161,629 |
T490S |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,301,531 |
S854T |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,821,893 |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,628,088 |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,659 |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,363,966 |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 138,147,416 |
E13K |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 11,104,632 |
S239G |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,583,815 |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,734,714 |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,698,800 |
D5G |
probably benign |
Het |
|
| Other mutations in Fuca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Fuca2
|
APN |
10 |
13,505,907 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02935:Fuca2
|
APN |
10 |
13,507,319 (GRCm38) |
missense |
probably null |
0.00 |
|
IGL02953:Fuca2
|
APN |
10 |
13,507,429 (GRCm38) |
splice site |
probably benign |
|
|
R0366:Fuca2
|
UTSW |
10 |
13,505,763 (GRCm38) |
missense |
probably benign |
|
|
R0543:Fuca2
|
UTSW |
10 |
13,503,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0731:Fuca2
|
UTSW |
10 |
13,506,027 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1573:Fuca2
|
UTSW |
10 |
13,505,843 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1879:Fuca2
|
UTSW |
10 |
13,507,256 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2026:Fuca2
|
UTSW |
10 |
13,512,647 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2030:Fuca2
|
UTSW |
10 |
13,506,774 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2142:Fuca2
|
UTSW |
10 |
13,505,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2883:Fuca2
|
UTSW |
10 |
13,505,951 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4462:Fuca2
|
UTSW |
10 |
13,503,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4863:Fuca2
|
UTSW |
10 |
13,505,907 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5466:Fuca2
|
UTSW |
10 |
13,512,697 (GRCm38) |
nonsense |
probably null |
|
|
R5640:Fuca2
|
UTSW |
10 |
13,507,430 (GRCm38) |
splice site |
probably null |
|
|
R6199:Fuca2
|
UTSW |
10 |
13,506,039 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7136:Fuca2
|
UTSW |
10 |
13,505,921 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7555:Fuca2
|
UTSW |
10 |
13,507,430 (GRCm38) |
splice site |
probably null |
|
|
R8111:Fuca2
|
UTSW |
10 |
13,514,801 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8266:Fuca2
|
UTSW |
10 |
13,512,889 (GRCm38) |
intron |
probably benign |
|
|
R9177:Fuca2
|
UTSW |
10 |
13,514,819 (GRCm38) |
nonsense |
probably null |
|
|
R9268:Fuca2
|
UTSW |
10 |
13,514,819 (GRCm38) |
nonsense |
probably null |
|
|
R9340:Fuca2
|
UTSW |
10 |
13,506,774 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9630:Fuca2
|
UTSW |
10 |
13,503,076 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation