Mutagenetix > Incidental Mutation

Incidental Mutation 'R8754:Fuca1'

664024

Institutional Source

Beutler Lab

Gene Symbol

Fuca1

Ensembl Gene

ENSMUSG00000028673

Gene Name

fucosidase, alpha-L- 1, tissue

Synonyms

9530055J05Rik, 0610006A03Rik, Afuc

MMRRC Submission

068620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135648037-135667611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135652889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 171 (L171P)

Ref Sequence

ENSEMBL: ENSMUSP00000030434 (fasta)

Gene Model

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

AlphaFold

Q99LJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030434
AA Change: L171P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
AA Change: L171P

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: 99.3%
20x: 97.5%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,798 (GRCm39)	V329A	probably benign	Het
A830018L16Rik	G	T	1: 11,615,472 (GRCm39)	K148N	probably benign	Het
Actn3	A	G	19: 4,913,488 (GRCm39)	F648L	probably damaging	Het
Amotl2	A	G	9: 102,597,358 (GRCm39)	D39G	possibly damaging	Het
Anks1	C	A	17: 28,214,984 (GRCm39)	T477K	possibly damaging	Het
Brix1	A	T	15: 10,476,664 (GRCm39)	S271T	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Chrna6	T	C	8: 27,897,229 (GRCm39)	H216R	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Copa	C	T	1: 171,935,926 (GRCm39)	R423W	probably damaging	Het
Cttnbp2	A	C	6: 18,434,037 (GRCm39)	I607R	possibly damaging	Het
Depdc5	A	T	5: 33,136,881 (GRCm39)	T1384S	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dusp26	C	T	8: 31,581,805 (GRCm39)		probably benign	Het
Eif1ad13	T	A	12: 87,762,569 (GRCm39)	N96K	possibly damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Gpr158	G	A	2: 21,581,693 (GRCm39)	V391I	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,428,175 (GRCm39)	Y771N	probably damaging	Het
Il17ra	A	G	6: 120,458,417 (GRCm39)	T523A	probably benign	Het
Kcnv1	G	A	15: 44,977,865 (GRCm39)	Q58*	probably null	Het
Kdm5d	T	C	Y: 941,594 (GRCm39)	V1265A	probably damaging	Het
Kifc3	A	T	8: 95,829,024 (GRCm39)	L726Q	probably damaging	Het
Klk1b21	T	A	7: 43,755,912 (GRCm39)	I247N	probably benign	Het
Kntc1	T	A	5: 123,897,115 (GRCm39)	N159K	probably benign	Het
Krtap4-7	G	T	11: 99,534,667 (GRCm39)	C65*	probably null	Het
Lama2	C	T	10: 26,877,147 (GRCm39)	V2680M	possibly damaging	Het
Lipe	T	A	7: 25,088,007 (GRCm39)	M61L	probably benign	Het
Med17	A	G	9: 15,188,896 (GRCm39)	M123T	possibly damaging	Het
Mrpl37	T	C	4: 106,921,611 (GRCm39)	N206S	probably benign	Het
Muc4	A	T	16: 32,602,356 (GRCm39)	N1390Y		Het
Muc5ac	C	T	7: 141,354,008 (GRCm39)	A869V	possibly damaging	Het
Nckap5l	A	G	15: 99,327,290 (GRCm39)	V133A	probably benign	Het
Nin	A	T	12: 70,077,787 (GRCm39)		probably benign	Het
Nr1h2	C	T	7: 44,200,768 (GRCm39)	A287T	probably damaging	Het
Or8c16	A	T	9: 38,130,865 (GRCm39)	I246L	possibly damaging	Het
Patl1	A	G	19: 11,899,898 (GRCm39)	E230G	probably damaging	Het
Pbxip1	T	C	3: 89,355,235 (GRCm39)	S585P	probably damaging	Het
Pde3b	T	A	7: 114,015,278 (GRCm39)	W165R	possibly damaging	Het
Pdia4	A	C	6: 47,773,464 (GRCm39)	D628E	probably benign	Het
Pigo	T	A	4: 43,024,724 (GRCm39)	H125L	probably benign	Het
Platr25	A	T	13: 62,847,924 (GRCm39)	*313K	probably null	Het
Plxdc1	A	T	11: 97,846,337 (GRCm39)	M169K	possibly damaging	Het
Pxk	T	C	14: 8,151,496 (GRCm38)	I437T	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Rnf123	T	A	9: 107,948,363 (GRCm39)	D110V	probably damaging	Het
Rnf185	A	T	11: 3,368,052 (GRCm39)	F209I	probably benign	Het
Rpl4	A	T	9: 64,082,242 (GRCm39)	N47I	probably damaging	Het
Rsl1d1	A	T	16: 11,017,512 (GRCm39)	F151L	probably damaging	Het
Sema3d	T	C	5: 12,603,191 (GRCm39)		probably null	Het
Serhl	A	G	15: 82,986,126 (GRCm39)	N80D	probably benign	Het
Sh3tc1	C	A	5: 35,863,802 (GRCm39)	R795L	probably benign	Het
Slc2a12	A	T	10: 22,521,116 (GRCm39)	T7S	probably benign	Het
Snrnp200	A	G	2: 127,068,005 (GRCm39)	Y834C	probably damaging	Het
Ss18	G	C	18: 14,774,016 (GRCm39)	Q258E	probably damaging	Het
Telo2	G	A	17: 25,321,041 (GRCm39)	L725F	probably damaging	Het
Tnxb	A	G	17: 34,934,882 (GRCm39)	E2497G	probably damaging	Het
Tox2	A	G	2: 163,163,360 (GRCm39)	D111G		Het
Trim16	G	A	11: 62,731,763 (GRCm39)	E545K	probably benign	Het
Trpm7	A	G	2: 126,664,623 (GRCm39)	W919R	probably damaging	Het
Ttbk1	G	T	17: 46,756,127 (GRCm39)	S1301*	probably null	Het
Txk	T	C	5: 72,889,122 (GRCm39)	N144S	probably damaging	Het
Ubqln4	T	A	3: 88,473,090 (GRCm39)	V515E	probably benign	Het
Ush2a	C	T	1: 188,581,162 (GRCm39)	R3681*	probably null	Het
Ythdf3	A	T	3: 16,258,138 (GRCm39)	N106I	probably damaging	Het
Zfp367	A	T	13: 64,292,069 (GRCm39)	C187*	probably null	Het
Zfp735	A	G	11: 73,603,000 (GRCm39)	D648G	possibly damaging	Het
Zic1	T	C	9: 91,244,701 (GRCm39)		probably benign	Het
Zik1	A	G	7: 10,223,826 (GRCm39)	S424P	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
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
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'- GCTTAGGCTGGCATCAAGC -3'
(R):5'- GTAAGTGAGCACAGCCCAG -3'

Sequencing Primer
(F):5'- tccaaagtgctgACTCCA -3'
(R):5'- ATAGAGCTGCCTTGTGCC -3'

Posted On

2021-03-08