Incidental Mutation 'IGL02935:Fuca2'
ID |
364287 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fuca2
|
Ensembl Gene |
ENSMUSG00000019810 |
Gene Name |
fucosidase, alpha-L- 2, plasma |
Synonyms |
5530401P20Rik, 0610025O11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
IGL02935
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
13376314-13394779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 13383063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 344
(E344K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060212]
[ENSMUST00000120549]
[ENSMUST00000121465]
|
AlphaFold |
Q99KR8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000060212
AA Change: E344K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000055519 Gene: ENSMUSG00000019810 AA Change: E344K
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 null
Transcript: ENSMUST00000121465
AA Change: E344K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000113499 Gene: ENSMUSG00000019810 AA Change: E344K
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 |
noncoding transcript
Transcript: ENSMUST00000150048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166466
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
G |
A |
13: 54,709,675 (GRCm39) |
P13L |
possibly damaging |
Het |
A930016O22Rik |
A |
T |
7: 19,154,338 (GRCm39) |
|
probably benign |
Het |
Ajuba |
A |
G |
14: 54,807,924 (GRCm39) |
F436S |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,971,625 (GRCm39) |
A961S |
probably damaging |
Het |
Brca1 |
A |
G |
11: 101,380,693 (GRCm39) |
V1780A |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,643,215 (GRCm39) |
L1043S |
probably damaging |
Het |
Cngb3 |
T |
A |
4: 19,425,491 (GRCm39) |
M433K |
possibly damaging |
Het |
Col4a1 |
T |
C |
8: 11,269,166 (GRCm39) |
D928G |
probably damaging |
Het |
Colq |
G |
A |
14: 31,257,591 (GRCm39) |
P259S |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,273,348 (GRCm39) |
Y828C |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,520,514 (GRCm39) |
R448G |
possibly damaging |
Het |
Dip2c |
A |
G |
13: 9,712,182 (GRCm39) |
D1435G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,225,926 (GRCm39) |
L1188* |
probably null |
Het |
Duox1 |
G |
T |
2: 122,155,000 (GRCm39) |
G462C |
possibly damaging |
Het |
Flcn |
A |
T |
11: 59,686,062 (GRCm39) |
I402N |
possibly damaging |
Het |
Golim4 |
T |
C |
3: 75,802,299 (GRCm39) |
H331R |
possibly damaging |
Het |
Grid1 |
A |
T |
14: 34,544,515 (GRCm39) |
I29F |
possibly damaging |
Het |
Hltf |
T |
A |
3: 20,123,215 (GRCm39) |
F201Y |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,691,339 (GRCm39) |
I677N |
probably benign |
Het |
Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
Meox2 |
A |
T |
12: 37,159,104 (GRCm39) |
H92L |
probably damaging |
Het |
Mlec |
C |
A |
5: 115,295,873 (GRCm39) |
R74L |
probably benign |
Het |
Mrpl58 |
G |
A |
11: 115,301,054 (GRCm39) |
|
probably benign |
Het |
Mtch1 |
T |
C |
17: 29,555,184 (GRCm39) |
D288G |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,582,990 (GRCm39) |
E1090G |
probably benign |
Het |
Nicn1 |
A |
G |
9: 108,167,845 (GRCm39) |
N39S |
probably benign |
Het |
Nlrp9c |
A |
G |
7: 26,084,701 (GRCm39) |
S293P |
probably benign |
Het |
Or2bd2 |
G |
A |
7: 6,443,753 (GRCm39) |
V285M |
possibly damaging |
Het |
Or51b4 |
T |
C |
7: 103,530,871 (GRCm39) |
N193S |
probably damaging |
Het |
Or5al1 |
G |
T |
2: 85,990,714 (GRCm39) |
|
probably benign |
Het |
Pcdh20 |
T |
A |
14: 88,704,438 (GRCm39) |
|
probably benign |
Het |
Peg3 |
C |
A |
7: 6,714,128 (GRCm39) |
V365F |
probably damaging |
Het |
Penk |
A |
G |
4: 4,133,843 (GRCm39) |
F268S |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,603,300 (GRCm39) |
Y116N |
probably damaging |
Het |
Prex1 |
C |
A |
2: 166,412,265 (GRCm39) |
G389C |
probably damaging |
Het |
Ptch2 |
C |
T |
4: 116,971,967 (GRCm39) |
A1163V |
probably damaging |
Het |
Rasgrp3 |
G |
A |
17: 75,804,065 (GRCm39) |
V123I |
probably benign |
Het |
Slc36a2 |
G |
T |
11: 55,060,854 (GRCm39) |
N185K |
possibly damaging |
Het |
Sox9 |
G |
T |
11: 112,676,175 (GRCm39) |
G455C |
probably damaging |
Het |
St6galnac1 |
G |
T |
11: 116,660,171 (GRCm39) |
D47E |
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,415 (GRCm39) |
D271V |
probably damaging |
Het |
Top3a |
A |
T |
11: 60,653,354 (GRCm39) |
I85K |
possibly damaging |
Het |
Ttll8 |
T |
A |
15: 88,798,759 (GRCm39) |
M659L |
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,988,112 (GRCm39) |
R656C |
probably damaging |
Het |
|
Other mutations in Fuca2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Fuca2
|
APN |
10 |
13,381,651 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00563:Fuca2
|
APN |
10 |
13,381,651 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02953:Fuca2
|
APN |
10 |
13,383,173 (GRCm39) |
splice site |
probably benign |
|
R0366:Fuca2
|
UTSW |
10 |
13,381,507 (GRCm39) |
missense |
probably benign |
|
R0543:Fuca2
|
UTSW |
10 |
13,378,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Fuca2
|
UTSW |
10 |
13,381,771 (GRCm39) |
missense |
probably benign |
0.08 |
R1573:Fuca2
|
UTSW |
10 |
13,381,587 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1879:Fuca2
|
UTSW |
10 |
13,383,000 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2026:Fuca2
|
UTSW |
10 |
13,388,391 (GRCm39) |
missense |
probably damaging |
0.97 |
R2030:Fuca2
|
UTSW |
10 |
13,382,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R2142:Fuca2
|
UTSW |
10 |
13,381,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2883:Fuca2
|
UTSW |
10 |
13,381,695 (GRCm39) |
missense |
probably benign |
0.01 |
R4462:Fuca2
|
UTSW |
10 |
13,378,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Fuca2
|
UTSW |
10 |
13,381,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R5466:Fuca2
|
UTSW |
10 |
13,388,441 (GRCm39) |
nonsense |
probably null |
|
R5640:Fuca2
|
UTSW |
10 |
13,383,174 (GRCm39) |
splice site |
probably null |
|
R6199:Fuca2
|
UTSW |
10 |
13,381,783 (GRCm39) |
missense |
probably damaging |
0.96 |
R7136:Fuca2
|
UTSW |
10 |
13,381,665 (GRCm39) |
missense |
probably benign |
0.27 |
R7555:Fuca2
|
UTSW |
10 |
13,383,174 (GRCm39) |
splice site |
probably null |
|
R8111:Fuca2
|
UTSW |
10 |
13,390,545 (GRCm39) |
missense |
probably benign |
0.02 |
R8266:Fuca2
|
UTSW |
10 |
13,388,633 (GRCm39) |
intron |
probably benign |
|
R9177:Fuca2
|
UTSW |
10 |
13,390,563 (GRCm39) |
nonsense |
probably null |
|
R9268:Fuca2
|
UTSW |
10 |
13,390,563 (GRCm39) |
nonsense |
probably null |
|
R9340:Fuca2
|
UTSW |
10 |
13,382,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R9630:Fuca2
|
UTSW |
10 |
13,378,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-12-18 |