Incidental Mutation 'IGL02483:Fut7'
ID 295319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut7
Ensembl Gene ENSMUSG00000036587
Gene Name fucosyltransferase 7
Synonyms FTVII, Fuc-TVII, FucT-VII
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL02483
Quality Score
Status
Chromosome 2
Chromosomal Location 25313279-25316386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25313888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 21 (F21Y)
Ref Sequence ENSEMBL: ENSMUSP00000097895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041654] [ENSMUST00000100320] [ENSMUST00000102919] [ENSMUST00000114278] [ENSMUST00000134259]
AlphaFold Q11131
Predicted Effect probably benign
Transcript: ENSMUST00000041654
SMART Domains Protein: ENSMUSP00000039985
Gene: ENSMUSG00000036587

DomainStartEndE-ValueType
Pfam:Glyco_transf_10 10 341 5.1e-122 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100320
AA Change: F21Y

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097895
Gene: ENSMUSG00000036587
AA Change: F21Y

DomainStartEndE-ValueType
transmembrane domain 59 81 N/A INTRINSIC
Pfam:Glyco_tran_10_N 91 201 8.8e-37 PFAM
Pfam:Glyco_transf_10 216 387 6.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102919
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
low complexity region 220 237 N/A INTRINSIC
coiled coil region 271 296 N/A INTRINSIC
low complexity region 309 346 N/A INTRINSIC
Pfam:ABC2_membrane_3 493 911 9.7e-18 PFAM
AAA 1015 1197 9.22e-7 SMART
low complexity region 1364 1376 N/A INTRINSIC
low complexity region 1589 1607 N/A INTRINSIC
Pfam:ABC2_membrane_3 1696 2008 2.3e-44 PFAM
AAA 2079 2264 1.12e-5 SMART
low complexity region 2375 2394 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114278
SMART Domains Protein: ENSMUSP00000109917
Gene: ENSMUSG00000036587

DomainStartEndE-ValueType
Pfam:Glyco_transf_10 10 341 5.1e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134259
SMART Domains Protein: ENSMUSP00000123526
Gene: ENSMUSG00000036587

DomainStartEndE-ValueType
Pfam:Glyco_transf_10 9 104 2.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142156
Coding Region Coverage
Validation Efficiency
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 Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal. However, abnormalities are found in immune cell function and lymph node morphology. Redeuced tumor metastasis is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Other mutations in Fut7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Fut7 APN 2 25,315,343 (GRCm39) nonsense probably null
IGL02967:Fut7 APN 2 25,315,155 (GRCm39) missense probably damaging 1.00
IGL03180:Fut7 APN 2 25,315,465 (GRCm39) missense possibly damaging 0.79
R1524:Fut7 UTSW 2 25,315,159 (GRCm39) missense probably damaging 1.00
R1968:Fut7 UTSW 2 25,315,738 (GRCm39) missense probably benign 0.16
R2115:Fut7 UTSW 2 25,315,343 (GRCm39) nonsense probably null
R2900:Fut7 UTSW 2 25,313,923 (GRCm39) missense probably benign
R4448:Fut7 UTSW 2 25,314,951 (GRCm39) missense probably benign 0.06
R7019:Fut7 UTSW 2 25,315,792 (GRCm39) missense probably benign 0.00
R9222:Fut7 UTSW 2 25,315,191 (GRCm39) missense possibly damaging 0.81
R9349:Fut7 UTSW 2 25,314,993 (GRCm39) missense possibly damaging 0.73
R9648:Fut7 UTSW 2 25,315,336 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16