Incidental Mutation 'R5821:Fuca1'
ID |
449928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fuca1
|
Ensembl Gene |
ENSMUSG00000028673 |
Gene Name |
fucosidase, alpha-L- 1, tissue |
Synonyms |
9530055J05Rik, 0610006A03Rik, Afuc |
MMRRC Submission |
043401-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
135648037-135667611 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 135650273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030434]
[ENSMUST00000068830]
[ENSMUST00000097843]
|
AlphaFold |
Q99LJ1 |
Predicted Effect |
probably null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (55/55) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
Cers2 |
G |
A |
3: 95,229,008 (GRCm39) |
|
probably benign |
Het |
Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
Cir1 |
C |
T |
2: 73,142,804 (GRCm39) |
C10Y |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,518,214 (GRCm39) |
F1087I |
probably damaging |
Het |
Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
Nutm2 |
A |
G |
13: 50,623,891 (GRCm39) |
Y196C |
probably benign |
Het |
Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,183,435 (GRCm39) |
D316G |
probably damaging |
Het |
Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
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 |
IGL01949:Fuca1
|
APN |
4 |
135,650,420 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGAGTCATACCTGCACAG -3'
(R):5'- TGGCTAAATGACCCTAGCAGAC -3'
Sequencing Primer
(F):5'- CTGCACAGGGATAATTATCACTATAG -3'
(R):5'- ACCCAGACTGGCTCTCTG -3'
|
Posted On |
2016-12-20 |