Incidental Mutation 'IGL01889:Sdc4'
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ID179208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdc4
Ensembl Gene ENSMUSG00000017009
Gene Namesyndecan 4
Synonymsryudocan, syndecan-4, Synd4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01889
Quality Score
Status
Chromosome2
Chromosomal Location164424247-164443887 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164431207 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 61 (L61P)
Ref Sequence ENSEMBL: ENSMUSP00000017153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017153]
Predicted Effect probably damaging
Transcript: ENSMUST00000017153
AA Change: L61P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017153
Gene: ENSMUSG00000017009
AA Change: L61P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
4.1m 169 187 1.61e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142909
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 transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele show delayed wound healing and impaired angiogenesis. Homozygotes for a different knock-out allele exhibit degenerated fetal vessels in the placental labyrinth, abnormal cell adhesion, and high susceptibility to induced renal and hepatic injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,828,000 probably benign Het
Brap G A 5: 121,660,818 V18I probably benign Het
Csmd1 C T 8: 15,998,857 V2282M probably damaging Het
Flnb A G 14: 7,935,967 E2269G possibly damaging Het
Gaa A G 11: 119,278,297 I557V probably benign Het
Gapt T A 13: 110,353,967 Q54L probably benign Het
Gsdmc A T 15: 63,780,003 I253N possibly damaging Het
Kcnj3 T A 2: 55,437,204 S2T possibly damaging Het
Mindy2 T C 9: 70,631,162 probably benign Het
Ncor1 A G 11: 62,334,601 V1048A possibly damaging Het
Nlrp4d A T 7: 10,378,334 V636D unknown Het
Nphs1 G T 7: 30,460,511 R82S probably damaging Het
Olfr1269 A G 2: 90,118,965 V211A possibly damaging Het
Olfr1336 G A 7: 6,460,503 probably benign Het
Olfr512 T A 7: 108,713,882 F164L probably benign Het
Papln T A 12: 83,786,835 L1175Q probably benign Het
Rab22a T C 2: 173,688,238 probably benign Het
Rel A G 11: 23,757,035 Y56H probably damaging Het
Slc1a4 A G 11: 20,314,089 probably benign Het
Ubr4 T A 4: 139,462,472 C3989* probably null Het
Zfyve16 A G 13: 92,522,569 V278A possibly damaging Het
Other mutations in Sdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
Jiangxi UTSW 2 164431286 missense probably benign 0.30
R1724:Sdc4 UTSW 2 164431286 missense probably benign 0.30
R1839:Sdc4 UTSW 2 164429012 missense probably benign 0.01
R2875:Sdc4 UTSW 2 164431291 missense possibly damaging 0.92
R2876:Sdc4 UTSW 2 164431291 missense possibly damaging 0.92
R4833:Sdc4 UTSW 2 164431218 missense probably damaging 0.96
R6250:Sdc4 UTSW 2 164431218 missense probably damaging 0.96
Posted On2014-05-07