Incidental Mutation 'IGL03051:Slc35b4'
ID409073
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 #IGL03051
Quality Score
Status
Chromosome6
Chromosomal Location34153380-34177111 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 34160471 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000019143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019143] [ENSMUST00000138250]
Predicted Effect probably null
Transcript: ENSMUST00000019143
SMART Domains Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Abhd14a A T 9: 106,443,929 F76I possibly damaging Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Appbp2 A T 11: 85,191,739 D555E possibly damaging Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpa33 A G 1: 166,165,221 H301R probably benign Het
Gpr39 T A 1: 125,677,748 C138S probably damaging Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Mpz G A 1: 171,158,811 R98H probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Trim59 T C 3: 69,036,873 N378S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Slc35b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Slc35b4 APN 6 34158429 missense probably benign 0.03
IGL01667:Slc35b4 APN 6 34167675 missense possibly damaging 0.81
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
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
R8189:Slc35b4 UTSW 6 34167635 missense probably damaging 1.00
Posted On2016-08-02