Incidental Mutation 'R5466:Fuca2'
ID |
433248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fuca2
|
Ensembl Gene |
ENSMUSG00000019810 |
Gene Name |
fucosidase, alpha-L- 2, plasma |
Synonyms |
5530401P20Rik, 0610025O11Rik |
MMRRC Submission |
043027-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R5466 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
13376314-13394779 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 13388441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 406
(Q406*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060212]
[ENSMUST00000121465]
|
AlphaFold |
Q99KR8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000060212
AA Change: Q406*
|
SMART Domains |
Protein: ENSMUSP00000055519 Gene: ENSMUSG00000019810 AA Change: Q406*
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 null
Transcript: ENSMUST00000121465
AA Change: Q406*
|
SMART Domains |
Protein: ENSMUSP00000113499 Gene: ENSMUSG00000019810 AA Change: Q406*
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 |
noncoding transcript
Transcript: ENSMUST00000150048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166466
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
Armc5 |
A |
G |
7: 127,839,336 (GRCm39) |
N218S |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
Mov10l1 |
T |
C |
15: 88,869,904 (GRCm39) |
|
probably null |
Het |
Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
Or4c117 |
A |
T |
2: 88,955,477 (GRCm39) |
F199L |
probably benign |
Het |
Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
Pcdha1 |
G |
A |
18: 37,065,312 (GRCm39) |
A659T |
possibly damaging |
Het |
Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
Zbtb21 |
A |
G |
16: 97,751,698 (GRCm39) |
S690P |
possibly damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
R2883:Fuca2
|
UTSW |
10 |
13,381,695 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- TTCATACCATGCAAGTGGGG -3'
(R):5'- CACTGGCCTTGCTTTGTCTAAG -3'
Sequencing Primer
(F):5'- TACCATGCAAGTGGGGGAAGTG -3'
(R):5'- GCTTTGTCTAAGTCGCCTTAAAG -3'
|
Posted On |
2016-10-06 |