Incidental Mutation 'IGL01889:Sdc4'
ID 179208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdc4
Ensembl Gene ENSMUSG00000017009
Gene Name syndecan 4
Synonyms Synd4, ryudocan, S4, syndecan-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01889
Quality Score
Status
Chromosome 2
Chromosomal Location 164266167-164285512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164273127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 61 (L61P)
Ref Sequence ENSEMBL: ENSMUSP00000017153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017153]
AlphaFold O35988
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: 92,804,981 (GRCm39) probably benign Het
Brap G A 5: 121,798,881 (GRCm39) V18I probably benign Het
Csmd1 C T 8: 16,048,857 (GRCm39) V2282M probably damaging Het
Flnb A G 14: 7,935,967 (GRCm38) E2269G possibly damaging Het
Gaa A G 11: 119,169,123 (GRCm39) I557V probably benign Het
Gapt T A 13: 110,490,501 (GRCm39) Q54L probably benign Het
Gsdmc A T 15: 63,651,852 (GRCm39) I253N possibly damaging Het
Kcnj3 T A 2: 55,327,216 (GRCm39) S2T possibly damaging Het
Mindy2 T C 9: 70,538,444 (GRCm39) probably benign Het
Ncor1 A G 11: 62,225,427 (GRCm39) V1048A possibly damaging Het
Nlrp4d A T 7: 10,112,261 (GRCm39) V636D unknown Het
Nphs1 G T 7: 30,159,936 (GRCm39) R82S probably damaging Het
Or10a3m T A 7: 108,313,089 (GRCm39) F164L probably benign Het
Or4x6 A G 2: 89,949,309 (GRCm39) V211A possibly damaging Het
Or6z3 G A 7: 6,463,502 (GRCm39) probably benign Het
Papln T A 12: 83,833,609 (GRCm39) L1175Q probably benign Het
Rab22a T C 2: 173,530,031 (GRCm39) probably benign Het
Rel A G 11: 23,707,035 (GRCm39) Y56H probably damaging Het
Slc1a4 A G 11: 20,264,089 (GRCm39) probably benign Het
Ubr4 T A 4: 139,189,783 (GRCm39) C3989* probably null Het
Zfyve16 A G 13: 92,659,077 (GRCm39) V278A possibly damaging Het
Other mutations in Sdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
Jiangxi UTSW 2 164,273,206 (GRCm39) missense probably benign 0.30
R1724:Sdc4 UTSW 2 164,273,206 (GRCm39) missense probably benign 0.30
R1839:Sdc4 UTSW 2 164,270,932 (GRCm39) missense probably benign 0.01
R2875:Sdc4 UTSW 2 164,273,211 (GRCm39) missense possibly damaging 0.92
R2876:Sdc4 UTSW 2 164,273,211 (GRCm39) missense possibly damaging 0.92
R4833:Sdc4 UTSW 2 164,273,138 (GRCm39) missense probably damaging 0.96
R6250:Sdc4 UTSW 2 164,273,138 (GRCm39) missense probably damaging 0.96
R8770:Sdc4 UTSW 2 164,270,822 (GRCm39) missense probably damaging 1.00
R9087:Sdc4 UTSW 2 164,270,959 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07