Incidental Mutation 'R2899:Fuca1'
ID |
261405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fuca1
|
Ensembl Gene |
ENSMUSG00000028673 |
Gene Name |
fucosidase, alpha-L- 1, tissue |
Synonyms |
9530055J05Rik, 0610006A03Rik, Afuc |
MMRRC Submission |
040487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
135648037-135667611 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 135650323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 131
(W131*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030434]
[ENSMUST00000068830]
[ENSMUST00000097843]
|
AlphaFold |
Q99LJ1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030434
AA Change: W131*
|
SMART Domains |
Protein: ENSMUSP00000030434 Gene: ENSMUSG00000028673 AA Change: W131*
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
97% (30/31) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGGTGACTCATCCCAAGG -3'
(R):5'- AAAGTCTGGGAGTCCATCTGC -3'
Sequencing Primer
(F):5'- AAGGGCCTATCCTTTTCATCAAGAC -3'
(R):5'- TCTCTGGCTAAATGACCCTAGCAG -3'
|
Posted On |
2015-01-23 |