Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Fuca2'

702688

Institutional Source

Beutler Lab

Gene Symbol

Fuca2

Ensembl Gene

ENSMUSG00000019810

Gene Name

fucosidase, alpha-L- 2, plasma

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13499540-13519035 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 13514819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 453 (W453*)

Ref Sequence

ENSEMBL: ENSMUSP00000055519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000121465]

AlphaFold

Q99KR8

Predicted Effect

probably null
Transcript: ENSMUST00000060212
AA Change: W453*

SMART Domains

Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: W453*

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Alpha_L_fucos	27	407	1.53e-235	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121465
AA Change: W453*

SMART Domains

Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: W453*

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Alpha_L_fucos	27	407	1.53e-235	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,061,723	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,432,034	T260I	probably damaging	Het
Acap2	A	T	16: 31,136,574	V161E	probably damaging	Het
Adnp	A	G	2: 168,189,313	I26T	possibly damaging	Het
Alk	T	C	17: 71,874,195	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,270,421	D265V	probably benign	Het
Asb15	G	A	6: 24,566,299	R417H	probably benign	Het
Atg2a	A	C	19: 6,241,875	H27P	probably damaging	Het
Bace1	G	T	9: 45,855,984		probably benign	Het
Camk1d	A	G	2: 5,299,090	S351P	probably benign	Het
Carf	C	A	1: 60,109,399	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,949,381	F76S	probably damaging	Het
Ces1b	A	C	8: 93,071,955	V201G	probably damaging	Het
Clk1	A	G	1: 58,419,723	L133S	unknown	Het
Clstn3	G	A	6: 124,456,921	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cyp2j11	A	T	4: 96,319,544		probably benign	Het
Dctn4	T	A	18: 60,526,232	M1K	probably null	Het
Dnah12	A	G	14: 26,849,298	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,569,586	V58D	possibly damaging	Het
Egfr	T	A	11: 16,905,410	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,441,220		probably null	Het
Enam	A	G	5: 88,492,919	M147V	probably benign	Het
Etaa1	A	T	11: 17,946,419	V566E	probably damaging	Het
F13a1	C	T	13: 36,892,936	G593D	probably benign	Het
Fam126b	T	C	1: 58,552,202	D94G	probably damaging	Het
Far2	C	T	6: 148,158,920	T257I	probably benign	Het
Fat4	C	T	3: 38,888,247	R430C	probably damaging	Het
Fhod3	T	C	18: 24,709,775		probably null	Het
Gm11238	T	C	4: 73,657,136	S351P	probably damaging	Het
Hfe2	T	C	3: 96,528,565	F380L	probably benign	Het
Igkv4-72	A	T	6: 69,226,996	Y70*	probably null	Het
Kdm1b	A	C	13: 47,064,229	N388T	probably benign	Het
Klri2	A	T	6: 129,733,074	W188R	probably damaging	Het
Lama4	A	G	10: 39,074,692	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,254,609	S89P	probably benign	Het
Macf1	T	C	4: 123,473,789	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,075,041	L265P	probably damaging	Het
Myo3b	A	C	2: 70,426,961	*1334C	probably null	Het
Nfatc4	A	T	14: 55,827,228	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,436,384	M393K	probably damaging	Het
Olfr1499	A	T	19: 13,815,024	C189S	probably damaging	Het
Olfr183	T	G	16: 58,999,720	F12V	probably damaging	Het
Otogl	A	T	10: 107,781,056	C1787S	probably damaging	Het
Papola	A	G	12: 105,799,773	E44G	probably benign	Het
Parp1	A	G	1: 180,587,944	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,643,623	E522V	probably benign	Het
Peli2	A	G	14: 48,281,470	E225G	probably benign	Het
Pus7l	T	C	15: 94,533,564	I395V	probably benign	Het
Rmi1	T	C	13: 58,408,039	I34T	probably damaging	Het
Rnf220	A	G	4: 117,489,636	I193T	probably benign	Het
Rpgrip1l	T	C	8: 91,280,727	T412A	probably benign	Het
Shisa7	T	G	7: 4,834,334	D244A	probably damaging	Het
Slco3a1	T	C	7: 74,303,198	T538A	probably benign	Het
Sptlc1	A	T	13: 53,358,836	I162N	probably damaging	Het
Ssrp1	C	A	2: 85,040,262		probably benign	Het
Sytl2	A	G	7: 90,385,151	N523S	probably benign	Het
Tcf20	A	G	15: 82,856,504	S249P	probably benign	Het
Thumpd3	T	A	6: 113,066,858	F411L	probably damaging	Het
Ttc30a1	A	T	2: 75,980,935	V268E	probably benign	Het
Ttn	A	G	2: 76,937,735	W3007R	unknown	Het
Ulbp1	A	T	10: 7,446,392	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,307,592	V99E	probably damaging	Het
Wdr47	T	C	3: 108,618,496	F112L	probably benign	Het
Wnk2	A	G	13: 49,082,031	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,711,840	L227P	probably damaging	Het

Other mutations in Fuca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Fuca2	APN	10	13505907	missense	probably damaging	0.99
IGL00563:Fuca2	APN	10	13505907	missense	probably damaging	0.99
IGL02935:Fuca2	APN	10	13507319	missense	probably null	0.00
IGL02953:Fuca2	APN	10	13507429	splice site	probably benign
R0366:Fuca2	UTSW	10	13505763	missense	probably benign
R0543:Fuca2	UTSW	10	13503126	missense	probably damaging	1.00
R0731:Fuca2	UTSW	10	13506027	missense	probably benign	0.08
R1573:Fuca2	UTSW	10	13505843	missense	possibly damaging	0.90
R1879:Fuca2	UTSW	10	13507256	missense	possibly damaging	0.64
R2026:Fuca2	UTSW	10	13512647	missense	probably damaging	0.97
R2030:Fuca2	UTSW	10	13506774	missense	probably damaging	0.99
R2142:Fuca2	UTSW	10	13505865	missense	probably damaging	1.00
R2883:Fuca2	UTSW	10	13505951	missense	probably benign	0.01
R4462:Fuca2	UTSW	10	13503235	missense	probably damaging	1.00
R4863:Fuca2	UTSW	10	13505907	missense	probably damaging	0.99
R5466:Fuca2	UTSW	10	13512697	nonsense	probably null
R5640:Fuca2	UTSW	10	13507430	splice site	probably null
R6199:Fuca2	UTSW	10	13506039	missense	probably damaging	0.96
R7136:Fuca2	UTSW	10	13505921	missense	probably benign	0.27
R7555:Fuca2	UTSW	10	13507430	splice site	probably null
R8111:Fuca2	UTSW	10	13514801	missense	probably benign	0.02
R8266:Fuca2	UTSW	10	13512889	intron	probably benign
R9177:Fuca2	UTSW	10	13514819	nonsense	probably null
R9340:Fuca2	UTSW	10	13506774	missense	probably damaging	0.99
R9630:Fuca2	UTSW	10	13503076	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACATCACAGTGCTCCATTAGG -3'
(R):5'- GACTTTGGAGGGAAGCATAGTC -3'

Sequencing Primer
(F):5'- AGGGAACATTTGTACATTGTTGTCCC -3'
(R):5'- CTTTGGAGGGAAGCATAGTCAAATG -3'

Posted On

2022-03-25