Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Fuca1'

285130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fuca1

Ensembl Gene

ENSMUSG00000028673

Gene Name

fucosidase, alpha-L- 1, tissue

Synonyms

9530055J05Rik, 0610006A03Rik, Afuc

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

135648037-135667611 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 135666530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030434 (fasta)

Gene Model

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

AlphaFold

Q99LJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000030434

SMART Domains

Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673

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

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,310,395 (GRCm39)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,943,933 (GRCm39)	M1V	probably null	Het
Anks1	T	C	17: 28,273,681 (GRCm39)	I977T	probably damaging	Het
Bcar1	T	C	8: 112,437,839 (GRCm39)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,793,641 (GRCm39)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,392,078 (GRCm39)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,140,903 (GRCm39)	H3148Q	probably damaging	Het
Col6a4	A	G	9: 105,940,141 (GRCm39)	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,166,455 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,067,738 (GRCm39)	G825S	possibly damaging	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Dnah17	G	T	11: 117,963,793 (GRCm39)	Y2506*	probably null	Het
Enam	T	A	5: 88,652,418 (GRCm39)	L1309*	probably null	Het
Fbxo15	G	A	18: 84,982,317 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,828 (GRCm39)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,815,540 (GRCm39)		probably benign	Het
Gad1-ps	T	A	10: 99,281,184 (GRCm39)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,544,661 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,578 (GRCm39)	F1168L	probably damaging	Het
Isx	T	A	8: 75,619,333 (GRCm39)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,407,070 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,494,932 (GRCm39)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,736,205 (GRCm39)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,876,083 (GRCm39)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,597,639 (GRCm39)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,597,708 (GRCm39)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,119,923 (GRCm39)		probably benign	Het
Nfkbil1	T	C	17: 35,439,722 (GRCm39)	R264G	possibly damaging	Het
Or4c3d	A	G	2: 89,882,038 (GRCm39)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,542,031 (GRCm39)	A174S	probably benign	Het
Plch1	A	T	3: 63,606,382 (GRCm39)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,035,512 (GRCm39)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,172,131 (GRCm39)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,742 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,680,763 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,908,202 (GRCm39)	T66S	probably benign	Het
Serpina1c	T	A	12: 103,862,338 (GRCm39)	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,030,190 (GRCm39)		probably null	Het
Slc18a2	A	G	19: 59,264,988 (GRCm39)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,950,495 (GRCm39)	M319K	probably damaging	Het
Slc44a5	T	C	3: 153,956,608 (GRCm39)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,441,672 (GRCm39)	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,098,032 (GRCm39)	F545S	probably benign	Het
Svop	T	C	5: 114,203,589 (GRCm39)	D65G	probably benign	Het
Tex30	A	T	1: 44,126,182 (GRCm39)	S182R	probably benign	Het
Tmem121b	T	C	6: 120,469,298 (GRCm39)	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 61,210,941 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,769,679 (GRCm39)	S490P	probably benign	Het
Ubr4	A	G	4: 139,115,746 (GRCm39)	T82A	probably benign	Het
Vps16	A	G	2: 130,283,573 (GRCm39)	D589G	possibly damaging	Het
Zscan29	A	C	2: 120,997,170 (GRCm39)	S184A	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
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
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

Posted On

2015-04-16