Incidental Mutation 'IGL01949:Fuca1'
| ID |
181018 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fuca1
|
| Ensembl Gene |
ENSMUSG00000028673 |
| Gene Name |
fucosidase, alpha-L- 1, tissue |
| Synonyms |
9530055J05Rik, 0610006A03Rik, Afuc |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135648037-135667611 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 135650420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030434]
[ENSMUST00000068830]
[ENSMUST00000097843]
|
| AlphaFold |
Q99LJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030434
|
| SMART Domains |
Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
Alpha_L_fucos
|
22 |
399 |
7.97e-234 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068830
|
| SMART Domains |
Protein: ENSMUSP00000069957
Gene: ENSMUSG00000062585
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
299 |
1.8e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097843
|
| SMART Domains |
Protein: ENSMUSP00000095454
Gene: ENSMUSG00000062585
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
299 |
8e-37 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
PHENOTYPE: Strain differences are probably due to a structural variant in Fuca1. Strains A/J, BDP, LP, P, SEA/Gn and 129/J have high FUCA activity and high heat stability; C57BL/6, C3H/He, DBA/2, BALB/c and 22 other strains have low activity and low heat stability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
| Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
A |
15: 101,619,048 (GRCm39) |
M278L |
probably benign |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,709 (GRCm39) |
D56G |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,357 (GRCm39) |
Y289C |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
| Pglyrp2 |
G |
T |
17: 32,635,080 (GRCm39) |
|
probably null |
Het |
| Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,979,102 (GRCm39) |
S341P |
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
probably damaging |
Het |
|
| Other mutations in Fuca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01627:Fuca1
|
APN |
4 |
135,652,862 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01767:Fuca1
|
APN |
4 |
135,666,512 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02220:Fuca1
|
APN |
4 |
135,666,530 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02457:Fuca1
|
APN |
4 |
135,662,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
Bereitzt
|
UTSW |
4 |
135,662,114 (GRCm39) |
nonsense |
probably null |
|
|
decoration
|
UTSW |
4 |
135,657,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Fuca1
|
UTSW |
4 |
135,652,955 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2899:Fuca1
|
UTSW |
4 |
135,650,323 (GRCm39) |
nonsense |
probably null |
|
|
R5025:Fuca1
|
UTSW |
4 |
135,660,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5298:Fuca1
|
UTSW |
4 |
135,664,237 (GRCm39) |
nonsense |
probably null |
|
|
R5416:Fuca1
|
UTSW |
4 |
135,650,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Fuca1
|
UTSW |
4 |
135,650,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Fuca1
|
UTSW |
4 |
135,650,273 (GRCm39) |
splice site |
probably null |
|
|
R6127:Fuca1
|
UTSW |
4 |
135,662,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6329:Fuca1
|
UTSW |
4 |
135,662,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6819:Fuca1
|
UTSW |
4 |
135,660,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Fuca1
|
UTSW |
4 |
135,660,405 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7654:Fuca1
|
UTSW |
4 |
135,657,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Fuca1
|
UTSW |
4 |
135,657,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8084:Fuca1
|
UTSW |
4 |
135,662,114 (GRCm39) |
nonsense |
probably null |
|
|
R8670:Fuca1
|
UTSW |
4 |
135,650,282 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8754:Fuca1
|
UTSW |
4 |
135,652,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8833:Fuca1
|
UTSW |
4 |
135,648,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Fuca1
|
UTSW |
4 |
135,660,375 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation