Incidental Mutation 'R5025:Fuca1'
| ID |
391290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fuca1
|
| Ensembl Gene |
ENSMUSG00000028673 |
| Gene Name |
fucosidase, alpha-L- 1, tissue |
| Synonyms |
9530055J05Rik, 0610006A03Rik, Afuc |
| MMRRC Submission |
042616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5025 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135648037-135667611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135660237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 252
(G252C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030434]
|
| AlphaFold |
Q99LJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030434
AA Change: G252C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
AA Change: G252C
| 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 |
noncoding transcript
Transcript: ENSMUST00000142033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153592
|
| Meta Mutation Damage Score |
0.8191 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
| Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
| Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
| Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
| Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
| Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly 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 |
|
|
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'- AAAACGTCTAGAGTCCCGCATG -3'
(R):5'- AGACGAACAGCTATGGCAATGC -3'
Sequencing Primer
(F):5'- TCCCGCATGTGCTCTGTAGAG -3'
(R):5'- GAACAGCTATGGCAATGCTCTTAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation