Incidental Mutation 'R2883:Fuca2'
ID |
260921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fuca2
|
Ensembl Gene |
ENSMUSG00000019810 |
Gene Name |
fucosidase, alpha-L- 2, plasma |
Synonyms |
5530401P20Rik, 0610025O11Rik |
MMRRC Submission |
040471-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R2883 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
13376314-13394779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13381695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 203
(T203A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060212]
[ENSMUST00000120549]
[ENSMUST00000121465]
[ENSMUST00000130865]
|
AlphaFold |
Q99KR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060212
AA Change: T203A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000055519 Gene: ENSMUSG00000019810 AA Change: T203A
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: ENSMUST00000120549
|
SMART Domains |
Protein: ENSMUSP00000114021 Gene: ENSMUSG00000019810
Domain | Start | End | E-Value | Type |
Alpha_L_fucos
|
1 |
95 |
1.15e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121465
AA Change: T203A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000113499 Gene: ENSMUSG00000019810 AA Change: T203A
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: 94.7%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
G |
A |
8: 122,266,644 (GRCm39) |
P81S |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,244,113 (GRCm39) |
Q790R |
probably benign |
Het |
Asic2 |
T |
A |
11: 80,784,839 (GRCm39) |
I367F |
possibly damaging |
Het |
Asxl2 |
T |
C |
12: 3,551,830 (GRCm39) |
S1191P |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,989,602 (GRCm39) |
S374P |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,773,222 (GRCm39) |
F167I |
probably damaging |
Het |
Cimip3 |
C |
A |
17: 47,747,650 (GRCm39) |
V32F |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,814,135 (GRCm39) |
L94P |
probably benign |
Het |
Cped1 |
A |
T |
6: 22,143,978 (GRCm39) |
T575S |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,302,072 (GRCm39) |
Y702C |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,560 (GRCm39) |
N84I |
probably damaging |
Het |
Dse |
A |
T |
10: 34,028,503 (GRCm39) |
D862E |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,810,985 (GRCm39) |
T1023S |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,034,953 (GRCm39) |
N2868K |
probably damaging |
Het |
Fgd5 |
G |
A |
6: 91,964,090 (GRCm39) |
|
probably null |
Het |
Fsip2 |
C |
T |
2: 82,821,868 (GRCm39) |
T5867I |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,795,874 (GRCm39) |
I131V |
probably damaging |
Het |
Gtpbp4 |
A |
G |
13: 9,040,759 (GRCm39) |
V122A |
possibly damaging |
Het |
Kif1b |
G |
A |
4: 149,322,105 (GRCm39) |
T938I |
possibly damaging |
Het |
Klhl29 |
T |
C |
12: 5,134,036 (GRCm39) |
D767G |
probably damaging |
Het |
Mageb3 |
A |
G |
2: 121,784,847 (GRCm39) |
V285A |
probably benign |
Het |
Myoc |
A |
G |
1: 162,467,185 (GRCm39) |
E118G |
possibly damaging |
Het |
Nedd1 |
A |
C |
10: 92,530,860 (GRCm39) |
F410V |
probably damaging |
Het |
Nipal1 |
A |
T |
5: 72,825,073 (GRCm39) |
K255N |
probably damaging |
Het |
Npr3 |
T |
C |
15: 11,883,410 (GRCm39) |
K340E |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,473,155 (GRCm39) |
G1023C |
possibly damaging |
Het |
Ogdh |
T |
C |
11: 6,284,545 (GRCm39) |
L188P |
probably damaging |
Het |
Or51ac3 |
T |
C |
7: 103,214,471 (GRCm39) |
N5S |
probably benign |
Het |
Or5v1 |
C |
T |
17: 37,810,271 (GRCm39) |
S243F |
probably damaging |
Het |
Or9q1 |
T |
A |
19: 13,805,239 (GRCm39) |
I174F |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,604,842 (GRCm39) |
T2188M |
probably damaging |
Het |
Pck1 |
G |
A |
2: 173,000,368 (GRCm39) |
V600I |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,454,708 (GRCm39) |
C42R |
probably damaging |
Het |
Rapgef4 |
G |
A |
2: 71,861,469 (GRCm39) |
R53H |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,938,995 (GRCm39) |
H426Y |
probably damaging |
Het |
Retreg2 |
C |
T |
1: 75,123,356 (GRCm39) |
P428L |
probably benign |
Het |
Rev3l |
G |
T |
10: 39,701,152 (GRCm39) |
S1883I |
probably damaging |
Het |
Rinl |
CGGG |
CGGGGG |
7: 28,497,083 (GRCm39) |
|
probably null |
Het |
Rora |
T |
C |
9: 69,282,717 (GRCm39) |
S356P |
probably damaging |
Het |
Slc31a1 |
T |
C |
4: 62,307,008 (GRCm39) |
V188A |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,306,879 (GRCm39) |
K335E |
probably damaging |
Het |
Spata22 |
C |
A |
11: 73,235,504 (GRCm39) |
H274N |
possibly damaging |
Het |
Srrm1 |
T |
C |
4: 135,048,722 (GRCm39) |
|
probably benign |
Het |
Stab2 |
A |
T |
10: 86,803,550 (GRCm39) |
I333N |
possibly damaging |
Het |
Supt5 |
A |
G |
7: 28,028,745 (GRCm39) |
Y153H |
possibly damaging |
Het |
Tyk2 |
T |
C |
9: 21,021,883 (GRCm39) |
T825A |
probably benign |
Het |
Usp20 |
G |
A |
2: 30,908,812 (GRCm39) |
V798M |
probably benign |
Het |
Wdr26 |
A |
T |
1: 181,038,685 (GRCm39) |
D102E |
probably 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 |
R4462:Fuca2
|
UTSW |
10 |
13,378,979 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCAGACCGTTCTTGGAACTGG -3'
(R):5'- CCACAGGAATGTAAATGCTGC -3'
Sequencing Primer
(F):5'- ACCGTTCTTGGAACTGGAATGC -3'
(R):5'- CCACAGGAATGTAAATGCTGCTGTAC -3'
|
Posted On |
2015-01-23 |