Incidental Mutation 'R4462:Fuca2'
| ID |
330190 |
| Institutional Source |
Beutler Lab
|
| 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: 0.140)
|
| Stock # |
R4462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
13376314-13394779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13378979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 41
(V41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060212]
[ENSMUST00000120549]
[ENSMUST00000121465]
[ENSMUST00000130865]
|
| AlphaFold |
Q99KR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060212
AA Change: V124A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: V124A
| 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 damaging
Transcript: ENSMUST00000120549
AA Change: V41A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114021
Gene: ENSMUSG00000019810
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
Alpha_L_fucos
|
1 |
95 |
1.15e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121465
AA Change: V124A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: V124A
| 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: ENSMUST00000130865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166466
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
T |
6: 55,457,084 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,836,357 (GRCm39) |
A705V |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,893,278 (GRCm39) |
V975E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Btnl6 |
A |
G |
17: 34,727,031 (GRCm39) |
S500P |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,368,876 (GRCm39) |
V34A |
probably damaging |
Het |
| Defa17 |
A |
G |
8: 22,146,553 (GRCm39) |
R60G |
probably benign |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Ggt6 |
C |
A |
11: 72,328,654 (GRCm39) |
H385N |
possibly damaging |
Het |
| Hgsnat |
G |
A |
8: 26,444,664 (GRCm39) |
T428I |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,891,015 (GRCm39) |
S535P |
probably damaging |
Het |
| Or2y6 |
T |
A |
11: 52,104,801 (GRCm39) |
N5I |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,360 (GRCm39) |
F106I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,200 (GRCm39) |
F3691L |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,637,229 (GRCm39) |
D282G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,421 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,295,213 (GRCm39) |
T187A |
probably benign |
Het |
| Slco3a1 |
A |
C |
7: 74,204,311 (GRCm39) |
S10A |
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,435 (GRCm39) |
Y458C |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,145,813 (GRCm39) |
M1537V |
possibly damaging |
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 |
|
IGL02953:Fuca2
|
APN |
10 |
13,383,173 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGGTAAAGCCAGGAATTAC -3'
(R):5'- TTCCAACTTAAGCGGAAACATC -3'
Sequencing Primer
(F):5'- GCCAGGAATTACTTTAAGCATCTGTG -3'
(R):5'- CACTATCCACCTATGGCTATTCTGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation