Mutagenetix > Incidental Mutation

Incidental Mutation 'R7623:Fuca1'

589244

Institutional Source

Beutler Lab

Gene Symbol

Fuca1

Ensembl Gene

ENSMUSG00000028673

Gene Name

fucosidase, alpha-L- 1, tissue

Synonyms

9530055J05Rik, 0610006A03Rik, Afuc

MMRRC Submission

045718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135648037-135667611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135660405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 308 (I308V)

Ref Sequence

ENSEMBL: ENSMUSP00000030434 (fasta)

Gene Model

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

AlphaFold

Q99LJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000030434
AA Change: I308V

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
AA Change: I308V

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	G	T	16: 21,513,092 (GRCm39)	L22M	probably damaging	Het
Abca9	T	C	11: 109,998,384 (GRCm39)	N1468S	probably benign	Het
Abcc5	C	T	16: 20,163,446 (GRCm39)	D1264N	possibly damaging	Het
Abhd10	A	G	16: 45,553,099 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,901,569 (GRCm39)	A570E	probably damaging	Het
Adgrb3	T	A	1: 25,586,629 (GRCm39)	S355C	probably damaging	Het
Adgrv1	A	G	13: 81,570,344 (GRCm39)	V4953A	possibly damaging	Het
Ano2	T	A	6: 125,992,536 (GRCm39)	Y836*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc8	T	A	7: 16,730,537 (GRCm39)	D675E	possibly damaging	Het
Ccnb2	A	G	9: 70,326,170 (GRCm39)	V58A	probably benign	Het
Cdcp3	T	A	7: 130,879,295 (GRCm39)		probably null	Het
Cdh24	A	T	14: 54,875,547 (GRCm39)	Y296N	probably damaging	Het
Cfap46	T	C	7: 139,198,266 (GRCm39)	E2054G	unknown	Het
Cnot1	A	T	8: 96,454,276 (GRCm39)	F2067I	probably damaging	Het
Csmd3	A	G	15: 47,813,334 (GRCm39)	F329S		Het
Dact3	C	A	7: 16,619,840 (GRCm39)	T445K	unknown	Het
Dph6	C	A	2: 114,485,379 (GRCm39)		probably benign	Het
Dst	T	A	1: 34,209,517 (GRCm39)	C1195S	probably damaging	Het
Eeig1	A	G	2: 32,456,346 (GRCm39)	D336G	possibly damaging	Het
Fat3	T	A	9: 15,899,620 (GRCm39)	N3138Y	probably damaging	Het
Fbxw25	T	C	9: 109,483,651 (GRCm39)	N187S		Het
Galnt5	A	G	2: 57,907,222 (GRCm39)	R562G	probably damaging	Het
Gas8	G	T	8: 124,249,718 (GRCm39)	R44S	probably damaging	Het
Gja5	T	C	3: 96,958,071 (GRCm39)	S43P	possibly damaging	Het
Gm14403	A	G	2: 177,200,405 (GRCm39)	D117G	probably benign	Het
Gmpr2	G	A	14: 55,910,491 (GRCm39)	V58M	probably damaging	Het
Gtpbp6	T	A	5: 110,252,950 (GRCm39)	I301F	probably damaging	Het
H2bc22	T	A	13: 21,971,762 (GRCm39)	D26E	probably benign	Het
Hdhd5	T	C	6: 120,498,212 (GRCm39)	Y129C	probably damaging	Het
Hemgn	A	G	4: 46,396,504 (GRCm39)	M244T	probably benign	Het
Hoxa1	T	G	6: 52,135,238 (GRCm39)		probably null	Het
Iglc1	T	A	16: 18,880,551 (GRCm39)	H90L		Het
Lamb2	C	T	9: 108,366,423 (GRCm39)	S1545F	possibly damaging	Het
Mc4r	T	C	18: 66,992,580 (GRCm39)	T178A	probably benign	Het
Mcam	T	A	9: 44,050,955 (GRCm39)	S346T	probably benign	Het
Mis18bp1	A	G	12: 65,195,626 (GRCm39)	S713P	probably benign	Het
Mybl2	A	G	2: 162,914,752 (GRCm39)	Y290C	probably damaging	Het
Or4k44	T	C	2: 111,368,281 (GRCm39)	M118V	probably damaging	Het
Or7e168	A	T	9: 19,720,225 (GRCm39)	I204F	possibly damaging	Het
Pak6	A	G	2: 118,525,068 (GRCm39)	T565A	probably damaging	Het
Pde5a	A	G	3: 122,568,250 (GRCm39)	T284A	probably benign	Het
Pkd1l2	A	T	8: 117,756,384 (GRCm39)	F1616Y	probably damaging	Het
Pp2d1	T	C	17: 53,822,907 (GRCm39)	E53G	probably benign	Het
Ppp3cc	A	C	14: 70,478,394 (GRCm39)	S269R	probably benign	Het
Ptprb	A	C	10: 116,205,214 (GRCm39)	D1856A	possibly damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Rnf8	T	A	17: 29,847,980 (GRCm39)	V344E	probably benign	Het
Rpn1	T	C	6: 88,061,550 (GRCm39)	L13P	possibly damaging	Het
Rsbn1	A	T	3: 103,822,326 (GRCm39)	H187L	probably benign	Het
Sdr16c6	T	A	4: 4,058,801 (GRCm39)	I262F	not run	Het
Sec22a	A	G	16: 35,149,894 (GRCm39)	F211L	probably benign	Het
Slc16a4	G	A	3: 107,205,297 (GRCm39)	A42T	possibly damaging	Het
Smap1	T	A	1: 23,887,376 (GRCm39)	Q386L	probably benign	Het
Sos1	A	T	17: 80,787,323 (GRCm39)	F10L	probably benign	Het
Sptbn2	A	G	19: 4,776,196 (GRCm39)	T202A	probably damaging	Het
Stab1	C	A	14: 30,862,578 (GRCm39)	V2282L	probably benign	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tmprss11f	C	T	5: 86,672,019 (GRCm39)	G391D	probably damaging	Het
Tnfaip2	A	G	12: 111,412,072 (GRCm39)	S158G	probably damaging	Het
Trav6d-5	A	G	14: 53,032,843 (GRCm39)	T31A	probably benign	Het
Tst	G	A	15: 78,289,903 (GRCm39)	A44V	probably damaging	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het
Vwc2	T	C	11: 11,066,415 (GRCm39)	F168L	probably damaging	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp605	A	G	5: 110,275,386 (GRCm39)	Y168C	probably benign	Het
Zfp790	T	A	7: 29,525,130 (GRCm39)	Y49*	probably null	Het
Zfp93	T	C	7: 23,975,794 (GRCm39)	F593S	probably damaging	Het
Zfr	C	T	15: 12,160,614 (GRCm39)	T729I	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
R6819:Fuca1	UTSW	4	135,660,267 (GRCm39)	missense	probably damaging	1.00
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'- CCAGAACTGCTCCTGTCATC -3'
(R):5'- CAATGTCCTTAGGAGAGCTTTGG -3'

Sequencing Primer
(F):5'- AGAACTGCTCCTGTCATCATGGAG -3'
(R):5'- TGGACTGAACCTCTGAACCTGTAAG -3'

Posted On

2019-10-24