Incidental Mutation 'IGL02953:Fuca2'
ID 365018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fuca2
Ensembl Gene ENSMUSG00000019810
Gene Name fucosidase, alpha-L- 2, plasma
Synonyms 5530401P20Rik, 0610025O11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02953
Quality Score
Status
Chromosome 10
Chromosomal Location 13376314-13394779 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 13383173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000120549] [ENSMUST00000121465]
AlphaFold Q99KR8
Predicted Effect probably benign
Transcript: ENSMUST00000060212
SMART Domains Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Alpha_L_fucos 1 95 1.15e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121465
SMART Domains Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166466
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,534 (GRCm39) S169P possibly damaging Het
Adap2 G A 11: 80,045,126 (GRCm39) G29R probably damaging Het
Adcy2 A T 13: 68,877,447 (GRCm39) I431N probably damaging Het
Amer3 T C 1: 34,626,877 (GRCm39) V372A probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Atp6v0b A T 4: 117,742,419 (GRCm39) V111E probably damaging Het
Cep20 T C 16: 14,122,339 (GRCm39) K142E probably benign Het
Clmp T A 9: 40,685,683 (GRCm39) L193Q probably damaging Het
Dcaf7 T G 11: 105,942,702 (GRCm39) Y216* probably null Het
Dcbld2 T A 16: 58,272,100 (GRCm39) D385E probably benign Het
Des T A 1: 75,340,288 (GRCm39) D398E possibly damaging Het
Fancm C T 12: 65,168,740 (GRCm39) T1701I probably benign Het
Fat1 C A 8: 45,477,351 (GRCm39) D2132E probably damaging Het
Fkbp14 T C 6: 54,556,667 (GRCm39) K161R probably damaging Het
Habp2 T A 19: 56,302,664 (GRCm39) probably null Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Herc3 C T 6: 58,834,718 (GRCm39) Q242* probably null Het
Igkv4-81 T C 6: 68,967,981 (GRCm39) K40R probably benign Het
Irf5 C A 6: 29,536,671 (GRCm39) H461N possibly damaging Het
Lypd11 C T 7: 24,422,991 (GRCm39) C109Y probably damaging Het
Nav2 G A 7: 49,198,171 (GRCm39) V1267M probably damaging Het
Nlk A G 11: 78,517,527 (GRCm39) V155A probably benign Het
Nup214 C T 2: 31,878,241 (GRCm39) H303Y possibly damaging Het
Pld1 A C 3: 28,166,396 (GRCm39) M812L probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Secisbp2l C T 2: 125,602,194 (GRCm39) E389K probably benign Het
Serpina3a C T 12: 104,082,748 (GRCm39) R174C probably benign Het
Spef2 T C 15: 9,713,329 (GRCm39) R405G possibly damaging Het
Srpx A T X: 9,983,706 (GRCm39) probably benign Het
St18 T A 1: 6,914,337 (GRCm39) probably benign Het
Tcerg1 C T 18: 42,681,535 (GRCm39) P561S probably damaging Het
Topbp1 T A 9: 103,205,634 (GRCm39) N757K probably benign Het
Trrap G T 5: 144,752,774 (GRCm39) L1782F probably damaging Het
Tut1 G T 19: 8,940,056 (GRCm39) V347L probably damaging Het
Txnip T A 3: 96,465,682 (GRCm39) V44D probably damaging Het
Usp8 C T 2: 126,579,857 (GRCm39) T369I probably benign Het
Zzef1 A G 11: 72,746,224 (GRCm39) N842S probably benign Het
Other mutations in Fuca2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0366:Fuca2 UTSW 10 13,381,507 (GRCm39) missense probably benign
R0543:Fuca2 UTSW 10 13,378,870 (GRCm39) missense probably damaging 1.00
R0731:Fuca2 UTSW 10 13,381,771 (GRCm39) missense probably benign 0.08
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
Posted On 2015-12-18