Incidental Mutation 'IGL02953:Fuca2'
ID |
365018 |
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 # |
IGL02953
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
13376314-13394779 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 13383173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060212]
[ENSMUST00000120549]
[ENSMUST00000121465]
|
AlphaFold |
Q99KR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060212
|
SMART Domains |
Protein: ENSMUSP00000055519 Gene: ENSMUSG00000019810
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 benign
Transcript: ENSMUST00000121465
|
SMART Domains |
Protein: ENSMUSP00000113499 Gene: ENSMUSG00000019810
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
Adap2 |
G |
A |
11: 80,045,126 (GRCm39) |
G29R |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
Amer3 |
T |
C |
1: 34,626,877 (GRCm39) |
V372A |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
Dcbld2 |
T |
A |
16: 58,272,100 (GRCm39) |
D385E |
probably benign |
Het |
Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
Irf5 |
C |
A |
6: 29,536,671 (GRCm39) |
H461N |
possibly damaging |
Het |
Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,517,527 (GRCm39) |
V155A |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
Txnip |
T |
A |
3: 96,465,682 (GRCm39) |
V44D |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
probably benign |
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 |
IGL02935:Fuca2
|
APN |
10 |
13,383,063 (GRCm39) |
missense |
probably null |
0.00 |
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 |