Incidental Mutation 'IGL01667:Slc35b4'
ID103351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35b4
Ensembl Gene ENSMUSG00000018999
Gene Namesolute carrier family 35, member B4
Synonyms4930474D06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01667
Quality Score
Status
Chromosome6
Chromosomal Location34153380-34177111 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34167675 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 82 (Y82H)
Ref Sequence ENSEMBL: ENSMUSP00000019143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019143] [ENSMUST00000138250]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019143
AA Change: Y82H

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999
AA Change: Y82H

DomainStartEndE-ValueType
Pfam:UAA 2 314 1.7e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126498
Predicted Effect probably benign
Transcript: ENSMUST00000138250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146514
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,570,019 T57A probably damaging Het
Akna G T 4: 63,379,159 T886N probably benign Het
Aqp9 A G 9: 71,138,213 V38A probably benign Het
Awat2 C T X: 100,404,254 G124D probably damaging Het
Camsap1 A G 2: 25,945,281 probably benign Het
Catsperg2 T C 7: 29,710,133 Y545C probably damaging Het
Cldn23 A G 8: 35,825,920 F138S possibly damaging Het
Clec4a3 A C 6: 122,952,860 probably benign Het
Dlgap3 C A 4: 127,233,897 T786K probably benign Het
Dnah2 A C 11: 69,544,395 S50A probably benign Het
Dnah2 A T 11: 69,520,941 I285N probably damaging Het
Dnah7a A G 1: 53,547,292 Y1467H probably damaging Het
Fgf22 C T 10: 79,756,754 P115L probably damaging Het
Fzd2 G T 11: 102,605,782 V351L possibly damaging Het
Gapdhs T A 7: 30,736,637 E174V possibly damaging Het
Gjc2 A C 11: 59,177,518 I46S probably damaging Het
Gm5581 T C 6: 131,167,772 noncoding transcript Het
Krt2 C A 15: 101,816,330 V282L possibly damaging Het
Myh15 G A 16: 49,195,579 V1873M probably benign Het
Myo1b T C 1: 51,760,377 T931A probably damaging Het
Myo6 A T 9: 80,289,893 K965N unknown Het
Olfr1441 T C 19: 12,422,756 V149A probably benign Het
Pcnx3 T C 19: 5,686,630 R160G probably benign Het
Slc22a16 T C 10: 40,585,018 I272T probably damaging Het
Spdya T C 17: 71,556,259 M1T probably null Het
St6gal1 A G 16: 23,321,424 N115S probably benign Het
Tbc1d12 A T 19: 38,914,300 probably benign Het
Tfrc A G 16: 32,624,443 probably benign Het
Trip11 A C 12: 101,878,862 F1539C probably damaging Het
Ttn A T 2: 76,781,078 I15624N possibly damaging Het
Vmn1r169 A T 7: 23,577,800 M206L probably benign Het
Zfp362 A G 4: 128,787,109 L141P probably damaging Het
Zfp692 A G 11: 58,311,553 H378R probably damaging Het
Zfp799 T C 17: 32,821,820 Q52R possibly damaging Het
Other mutations in Slc35b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Slc35b4 APN 6 34158429 missense probably benign 0.03
IGL01670:Slc35b4 APN 6 34170549 missense probably benign 0.00
IGL02015:Slc35b4 APN 6 34170548 missense probably damaging 1.00
IGL02710:Slc35b4 APN 6 34158541 missense probably benign 0.02
IGL03051:Slc35b4 APN 6 34160471 critical splice donor site probably null
R0008:Slc35b4 UTSW 6 34158517 missense probably damaging 1.00
R0008:Slc35b4 UTSW 6 34158517 missense probably damaging 1.00
R1052:Slc35b4 UTSW 6 34161684 missense probably damaging 1.00
R1304:Slc35b4 UTSW 6 34163365 nonsense probably null
R1606:Slc35b4 UTSW 6 34158388 nonsense probably null
R1713:Slc35b4 UTSW 6 34170549 missense probably benign 0.00
R1872:Slc35b4 UTSW 6 34158505 nonsense probably null
R5539:Slc35b4 UTSW 6 34176802 missense probably damaging 0.99
R6954:Slc35b4 UTSW 6 34158621 missense probably benign 0.02
R7339:Slc35b4 UTSW 6 34167656 missense probably damaging 1.00
R7560:Slc35b4 UTSW 6 34163361 missense probably benign 0.01
Posted On2014-01-21