Incidental Mutation 'R6127:Fuca1'
| ID |
487436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fuca1
|
| Ensembl Gene |
ENSMUSG00000028673 |
| Gene Name |
fucosidase, alpha-L- 1, tissue |
| Synonyms |
9530055J05Rik, 0610006A03Rik, Afuc |
| MMRRC Submission |
044274-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135648037-135667611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135662122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 350
(I350N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030434]
|
| AlphaFold |
Q99LJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030434
AA Change: I350N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
AA Change: I350N
| 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 |
0.5892 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003F12Rik |
A |
G |
2: 154,391,509 (GRCm39) |
E92G |
probably damaging |
Het |
| 4931429L15Rik |
T |
A |
9: 46,220,220 (GRCm39) |
D104V |
probably damaging |
Het |
| Actl9 |
T |
C |
17: 33,652,354 (GRCm39) |
V138A |
probably benign |
Het |
| Agl |
T |
A |
3: 116,551,978 (GRCm39) |
I1204F |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,286,356 (GRCm39) |
T1381N |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,435,809 (GRCm39) |
L167W |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,790,838 (GRCm39) |
E189K |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,768,088 (GRCm39) |
D348G |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,335 (GRCm39) |
T726A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,513,624 (GRCm39) |
I2829F |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,457,342 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
G |
5: 84,218,953 (GRCm39) |
K937N |
probably damaging |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Hagh |
G |
T |
17: 25,079,978 (GRCm39) |
M152I |
probably damaging |
Het |
| Hexd |
T |
C |
11: 121,107,825 (GRCm39) |
V185A |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,789,652 (GRCm39) |
T109A |
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,530,001 (GRCm39) |
Y702H |
probably damaging |
Het |
| Leng1 |
G |
A |
7: 3,665,866 (GRCm39) |
P157L |
probably damaging |
Het |
| Maea |
C |
T |
5: 33,492,862 (GRCm39) |
|
probably benign |
Het |
| Mertk |
G |
T |
2: 128,580,211 (GRCm39) |
V222F |
probably damaging |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Muc13 |
G |
A |
16: 33,619,317 (GRCm39) |
A22T |
unknown |
Het |
| Muc16 |
T |
A |
9: 18,569,174 (GRCm39) |
H1115L |
unknown |
Het |
| Or2y1d |
C |
A |
11: 49,321,633 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5ae2 |
T |
A |
7: 84,506,410 (GRCm39) |
L278M |
probably damaging |
Het |
| Or5l13 |
T |
A |
2: 87,779,705 (GRCm39) |
S291C |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,284 (GRCm39) |
Y288H |
probably damaging |
Het |
| Pak5 |
G |
A |
2: 135,929,326 (GRCm39) |
P619L |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,500 (GRCm39) |
K993E |
probably damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,807,757 (GRCm39) |
Q70L |
probably damaging |
Het |
| Pcdhgb5 |
C |
A |
18: 37,865,932 (GRCm39) |
R576S |
probably damaging |
Het |
| Pold1 |
T |
C |
7: 44,191,545 (GRCm39) |
Y147C |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,614,555 (GRCm39) |
L1369P |
unknown |
Het |
| Psg29 |
T |
A |
7: 16,945,671 (GRCm39) |
F414I |
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,419,534 (GRCm39) |
S526I |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Setd7 |
G |
A |
3: 51,437,502 (GRCm39) |
T251I |
probably damaging |
Het |
| Slc25a41 |
T |
A |
17: 57,341,914 (GRCm39) |
Y145F |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,833,750 (GRCm39) |
V1121A |
probably benign |
Het |
| Svip |
T |
C |
7: 51,653,201 (GRCm39) |
T38A |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,227,845 (GRCm39) |
H1510L |
possibly damaging |
Het |
| Trav19 |
A |
G |
14: 54,082,999 (GRCm39) |
T25A |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,773,752 (GRCm39) |
|
probably null |
Het |
| Tulp1 |
T |
A |
17: 28,575,124 (GRCm39) |
H447L |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,373 (GRCm39) |
T59S |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,839,558 (GRCm39) |
L10H |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,426,701 (GRCm39) |
Y157H |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,542 (GRCm39) |
S187P |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
R2899:Fuca1
|
UTSW |
4 |
135,650,323 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- TCTAGACACTGCCAGGCTTG -3'
(R):5'- GCTTCCCCAAGTGATTTTGG -3'
Sequencing Primer
(F):5'- AGGCTTGGTAGTCACACCTCAG -3'
(R):5'- GGTTGGGTGTTTAAAGTACTCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation