Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Fuca2'

67571

Institutional Source

Beutler Lab

Gene Symbol

Fuca2

Ensembl Gene

ENSMUSG00000019810

Gene Name

fucosidase, alpha-L- 2, plasma

Synonyms

5530401P20Rik, 0610025O11Rik

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0731 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

13376314-13394779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13381771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 228 (P228L)

Ref Sequence

ENSEMBL: ENSMUSP00000113499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000120549] [ENSMUST00000121465] [ENSMUST00000130865]

AlphaFold

Q99KR8

Predicted Effect

probably benign
Transcript: ENSMUST00000060212
AA Change: P228L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: P228L

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 benign
Transcript: ENSMUST00000120549

SMART Domains

Protein: ENSMUSP00000114021
Gene: ENSMUSG00000019810

Domain	Start	End	E-Value	Type
Alpha_L_fucos	1	95	1.15e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121465
AA Change: P228L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: P228L

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 benign
Transcript: ENSMUST00000130865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166466

Meta Mutation Damage Score

0.2254

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably damaging	Het

Other mutations in Fuca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Fuca2	APN	10	13,381,651 (GRCm39)	missense	probably damaging	0.99
IGL00563:Fuca2	APN	10	13,381,651 (GRCm39)	missense	probably damaging	0.99
IGL02935:Fuca2	APN	10	13,383,063 (GRCm39)	missense	probably null	0.00
IGL02953:Fuca2	APN	10	13,383,173 (GRCm39)	splice site	probably benign
R0366:Fuca2	UTSW	10	13,381,507 (GRCm39)	missense	probably benign
R0543:Fuca2	UTSW	10	13,378,870 (GRCm39)	missense	probably damaging	1.00
R1573:Fuca2	UTSW	10	13,381,587 (GRCm39)	missense	possibly damaging	0.90
R1879:Fuca2	UTSW	10	13,383,000 (GRCm39)	missense	possibly damaging	0.64
R2026:Fuca2	UTSW	10	13,388,391 (GRCm39)	missense	probably damaging	0.97
R2030:Fuca2	UTSW	10	13,382,518 (GRCm39)	missense	probably damaging	0.99
R2142:Fuca2	UTSW	10	13,381,609 (GRCm39)	missense	probably damaging	1.00
R2883:Fuca2	UTSW	10	13,381,695 (GRCm39)	missense	probably benign	0.01
R4462:Fuca2	UTSW	10	13,378,979 (GRCm39)	missense	probably damaging	1.00
R4863:Fuca2	UTSW	10	13,381,651 (GRCm39)	missense	probably damaging	0.99
R5466:Fuca2	UTSW	10	13,388,441 (GRCm39)	nonsense	probably null
R5640:Fuca2	UTSW	10	13,383,174 (GRCm39)	splice site	probably null
R6199:Fuca2	UTSW	10	13,381,783 (GRCm39)	missense	probably damaging	0.96
R7136:Fuca2	UTSW	10	13,381,665 (GRCm39)	missense	probably benign	0.27
R7555:Fuca2	UTSW	10	13,383,174 (GRCm39)	splice site	probably null
R8111:Fuca2	UTSW	10	13,390,545 (GRCm39)	missense	probably benign	0.02
R8266:Fuca2	UTSW	10	13,388,633 (GRCm39)	intron	probably benign
R9177:Fuca2	UTSW	10	13,390,563 (GRCm39)	nonsense	probably null
R9268:Fuca2	UTSW	10	13,390,563 (GRCm39)	nonsense	probably null
R9340:Fuca2	UTSW	10	13,382,518 (GRCm39)	missense	probably damaging	0.99
R9630:Fuca2	UTSW	10	13,378,820 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTTGGAACTGGAATGCAGTCGATG -3'
(R):5'- CTGTCACGGCACAAATGAGCAC -3'

Sequencing Primer
(F):5'- AACAGGACTGGCTTGCAC -3'
(R):5'- TGAGCACGGAACCACAG -3'

Posted On

2013-09-03