Mutagenetix > Incidental Mutation

Incidental Mutation 'R6819:Fuca1'

537509

Institutional Source

Beutler Lab

Gene Symbol

Fuca1

Ensembl Gene

ENSMUSG00000028673

Gene Name

fucosidase, alpha-L- 1, tissue

Synonyms

9530055J05Rik, 0610006A03Rik, Afuc

MMRRC Submission

044931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135648037-135667611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135660267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 262 (Y262H)

Ref Sequence

ENSEMBL: ENSMUSP00000030434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030434]

AlphaFold

Q99LJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030434
AA Change: Y262H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
AA Change: Y262H

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Alpha_L_fucos	22	399	7.97e-234	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,506,767 (GRCm39)	V1196L	probably benign	Het
Adal	T	A	2: 120,978,794 (GRCm39)	I138N	probably damaging	Het
Arfgap1	T	C	2: 180,613,478 (GRCm39)		probably null	Het
Boc	T	C	16: 44,313,188 (GRCm39)	T559A	probably damaging	Het
Brip1	A	G	11: 86,001,267 (GRCm39)	V723A	possibly damaging	Het
Cnot10	A	C	9: 114,444,123 (GRCm39)	I424S	probably benign	Het
Cntnap4	T	G	8: 113,529,858 (GRCm39)	S689A	probably benign	Het
Cuzd1	A	T	7: 130,911,460 (GRCm39)	N506K	possibly damaging	Het
Dctn3	T	A	4: 41,715,259 (GRCm39)	T158S	possibly damaging	Het
Dnai2	A	G	11: 114,635,917 (GRCm39)	I301V	probably benign	Het
Ebpl	G	T	14: 61,578,695 (GRCm39)	P180Q	probably damaging	Het
Epha5	T	A	5: 84,254,649 (GRCm39)	Y489F	probably damaging	Het
Frmd8	T	C	19: 5,915,208 (GRCm39)	N232S	probably benign	Het
Gfy	T	C	7: 44,826,975 (GRCm39)	I374V	possibly damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Ica1	G	T	6: 8,742,288 (GRCm39)	T115K	probably damaging	Het
Igf2bp2	T	C	16: 21,879,586 (GRCm39)	E511G	probably damaging	Het
Jag2	C	A	12: 112,874,161 (GRCm39)	R998L	probably damaging	Het
Kcnv1	G	T	15: 44,972,513 (GRCm39)	L457I	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Ms4a8a	T	A	19: 11,053,743 (GRCm39)	H121L	probably damaging	Het
Muc5b	T	A	7: 141,412,600 (GRCm39)	S1849T	unknown	Het
Myo10	T	C	15: 25,781,496 (GRCm39)	V997A	possibly damaging	Het
Or10g3b	A	G	14: 52,587,156 (GRCm39)	Y116H	probably damaging	Het
Or10g9b	T	A	9: 39,917,844 (GRCm39)	M134L	probably benign	Het
Or8g54	T	A	9: 39,706,905 (GRCm39)	I78N	probably benign	Het
Pate2	T	A	9: 35,581,801 (GRCm39)	C32S	probably damaging	Het
Per1	G	T	11: 68,992,284 (GRCm39)	Q179H	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Rbp2	T	A	9: 98,391,614 (GRCm39)	V130E	probably damaging	Het
Rictor	T	A	15: 6,825,517 (GRCm39)		probably null	Het
Rundc3a	A	T	11: 102,289,287 (GRCm39)	R153*	probably null	Het
Scrn3	C	T	2: 73,149,826 (GRCm39)	A174V	probably damaging	Het
Serpina10	T	A	12: 103,594,619 (GRCm39)	Q200L	probably benign	Het
Slc25a51	A	T	4: 45,399,365 (GRCm39)	I275N	possibly damaging	Het
Spast	C	T	17: 74,674,281 (GRCm39)	H238Y	possibly damaging	Het
Speg	A	T	1: 75,368,456 (GRCm39)	I775F	possibly damaging	Het
Ssh1	G	T	5: 114,084,851 (GRCm39)	T463K	probably benign	Het
Tm2d3	A	G	7: 65,347,526 (GRCm39)	E151G	probably damaging	Het
Uggt2	A	G	14: 119,263,847 (GRCm39)	I1061T	probably damaging	Het
Unc79	T	G	12: 103,108,267 (GRCm39)	S1941A	probably benign	Het
Vcan	T	C	13: 89,853,244 (GRCm39)	D572G	probably benign	Het
Vmn2r16	T	G	5: 109,488,412 (GRCm39)	S428R	probably benign	Het
Zeb1	A	G	18: 5,591,917 (GRCm39)	D3G	probably damaging	Het
Zfp352	A	G	4: 90,112,936 (GRCm39)	T359A	probably benign	Het
Zfp987	C	A	4: 146,062,315 (GRCm39)	D582E	probably benign	Het
Zg16	G	A	7: 126,649,692 (GRCm39)	P90S	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
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
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
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

Posted On

2018-10-18