Incidental Mutation 'R7019:Fut7'
ID 545488
Institutional Source Beutler Lab
Gene Symbol Fut7
Ensembl Gene ENSMUSG00000036587
Gene Name fucosyltransferase 7
Synonyms FTVII, Fuc-TVII, FucT-VII
MMRRC Submission 045120-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R7019 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25313279-25316386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25315792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 350 (D350G)
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
AA Change: D303G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039985
Gene: ENSMUSG00000036587
AA Change: D303G

DomainStartEndE-ValueType
Pfam:Glyco_transf_10 10 341 5.1e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100320
AA Change: D350G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097895
Gene: ENSMUSG00000036587
AA Change: D350G

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
AA Change: D303G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109917
Gene: ENSMUSG00000036587
AA Change: D303G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,436,395 (GRCm39) K414* probably null Het
Aco1 T A 4: 40,186,376 (GRCm39) I596N probably damaging Het
Adgre1 A C 17: 57,717,945 (GRCm39) D319A probably damaging Het
Birc6 T C 17: 74,916,340 (GRCm39) V445A probably benign Het
Btd A C 14: 31,389,062 (GRCm39) Q261P probably damaging Het
Btd G T 14: 31,389,063 (GRCm39) Q261H possibly damaging Het
C7 T A 15: 5,075,164 (GRCm39) Y176F probably benign Het
Ccdc102a T C 8: 95,636,431 (GRCm39) S287G probably benign Het
Ccdc178 T A 18: 22,283,495 (GRCm39) T12S probably benign Het
Cnga4 G T 7: 105,055,036 (GRCm39) A104S probably benign Het
Col10a1 G T 10: 34,270,947 (GRCm39) L306F probably damaging Het
Cpne5 T C 17: 29,445,196 (GRCm39) D36G probably damaging Het
Csmd2 G A 4: 128,262,856 (GRCm39) D681N Het
Cspg4b C T 13: 113,488,284 (GRCm39) T102I probably benign Het
Cstl1 A G 2: 148,597,223 (GRCm39) M75V probably benign Het
Cyp26a1 T C 19: 37,687,260 (GRCm39) L149P probably damaging Het
D630045J12Rik T G 6: 38,171,570 (GRCm39) E866A probably benign Het
Dlec1 C T 9: 118,941,490 (GRCm39) P292L probably benign Het
Dpp3 T G 19: 4,966,817 (GRCm39) E402A possibly damaging Het
Egf T C 3: 129,511,713 (GRCm39) probably null Het
Epha5 T C 5: 84,564,321 (GRCm39) Q15R possibly damaging Het
Esyt3 A G 9: 99,197,338 (GRCm39) F831L probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Gab1 C A 8: 81,511,446 (GRCm39) E466D probably damaging Het
Glrp1 A T 1: 88,430,890 (GRCm39) M160K unknown Het
Gngt1 T C 6: 3,994,088 (GRCm39) probably null Het
Gprc6a A T 10: 51,507,508 (GRCm39) V7E possibly damaging Het
Idh3b A T 2: 130,122,886 (GRCm39) V301D probably damaging Het
Ifi202b A C 1: 173,791,524 (GRCm39) C385G probably benign Het
Ilvbl T A 10: 78,414,920 (GRCm39) L261Q probably damaging Het
Irx6 T A 8: 93,405,362 (GRCm39) L410Q probably damaging Het
Ism2 T C 12: 87,346,437 (GRCm39) M15V unknown Het
Itih5 C A 2: 10,195,138 (GRCm39) R177S probably damaging Het
Klra3 C T 6: 130,304,087 (GRCm39) G202R probably damaging Het
Krt7 T C 15: 101,311,851 (GRCm39) V103A probably damaging Het
Lama3 T C 18: 12,661,475 (GRCm39) S2145P probably damaging Het
Mlph A G 1: 90,869,428 (GRCm39) R477G probably damaging Het
Mybpc1 T A 10: 88,379,581 (GRCm39) L653F probably damaging Het
Myrfl A G 10: 116,617,852 (GRCm39) probably null Het
Myrip T G 9: 120,251,573 (GRCm39) L232R probably damaging Het
Nrdc A T 4: 108,885,999 (GRCm39) H126L probably benign Het
Or4n5 A T 14: 50,133,124 (GRCm39) I45N probably damaging Het
Or5p50 G T 7: 107,422,365 (GRCm39) L104I probably benign Het
Or8c11 T A 9: 38,290,098 (GRCm39) L307Q possibly damaging Het
Pcdhb10 T A 18: 37,546,056 (GRCm39) N377K probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Prkdc A C 16: 15,587,830 (GRCm39) I2572L probably benign Het
Ptpro C A 6: 137,357,476 (GRCm39) D322E probably benign Het
R3hcc1 A G 14: 69,941,574 (GRCm39) I332T probably damaging Het
Rab8a T C 8: 72,915,227 (GRCm39) F9L probably damaging Het
Ranbp3l A T 15: 9,057,241 (GRCm39) K165N probably damaging Het
Rock2 T A 12: 17,027,741 (GRCm39) C1353S probably damaging Het
Rsad2 T A 12: 26,506,418 (GRCm39) M1L possibly damaging Het
Tymp A T 15: 89,260,484 (GRCm39) probably null Het
Vmn1r104 A G 7: 20,268,491 (GRCm39) M244V probably benign Het
Vmn1r232 G A 17: 21,133,547 (GRCm39) T351M possibly damaging Het
Vmn2r50 A G 7: 9,784,172 (GRCm39) Y101H probably benign Het
Vmn2r57 A G 7: 41,078,089 (GRCm39) L123P probably damaging Het
Wdr17 T C 8: 55,134,488 (GRCm39) N331D probably damaging Het
Wdr47 C T 3: 108,521,671 (GRCm39) Q89* probably null Het
Zcchc4 A T 5: 52,941,375 (GRCm39) T57S probably benign Het
Other mutations in Fut7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Fut7 APN 2 25,315,343 (GRCm39) nonsense probably null
IGL02483:Fut7 APN 2 25,313,888 (GRCm39) missense possibly damaging 0.47
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
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
Predicted Primers PCR Primer
(F):5'- TGAGAAGTTCTGGCGCAATGC -3'
(R):5'- CCATGGTGACCAAAAGCCTG -3'

Sequencing Primer
(F):5'- TTTGTACACGTGGACGAC -3'
(R):5'- GTGACCAAAAGCCTGGATGCC -3'
Posted On 2019-05-13