Incidental Mutation 'IGL01768:Sparc'
ID 153994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sparc
Ensembl Gene ENSMUSG00000018593
Gene Name secreted acidic cysteine rich glycoprotein
Synonyms osteonectin, BM-40
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01768
Quality Score
Status
Chromosome 11
Chromosomal Location 55284985-55310906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55296069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 87 (N87K)
Ref Sequence ENSEMBL: ENSMUSP00000104486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018737] [ENSMUST00000108858] [ENSMUST00000141530] [ENSMUST00000213866] [ENSMUST00000214685] [ENSMUST00000216313]
AlphaFold P07214
Predicted Effect possibly damaging
Transcript: ENSMUST00000018737
AA Change: N88K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018737
Gene: ENSMUSG00000018593
AA Change: N88K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 22 42 N/A INTRINSIC
FOLN 70 93 5.24e-8 SMART
KAZAL 93 148 1.16e-9 SMART
Pfam:SPARC_Ca_bdg 151 288 5.3e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108858
AA Change: N87K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104486
Gene: ENSMUSG00000018593
AA Change: N87K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 21 41 N/A INTRINSIC
FOLN 69 92 5.24e-8 SMART
KAZAL 92 147 1.16e-9 SMART
Pfam:SPARC_Ca_bdg 150 287 1.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130642
Predicted Effect probably benign
Transcript: ENSMUST00000141530
AA Change: N86K

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119475
Gene: ENSMUSG00000018593
AA Change: N86K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FOLN 68 91 5.24e-8 SMART
KAZAL 91 146 1.16e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000213866
AA Change: N118K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214685
AA Change: N88K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000216313
AA Change: N118K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cataracts, reduced skin collagen content, accelerated wound closure, osteopenia associated with reduced bone remodeling, and increased growth of implanted tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm3 T C 16: 17,324,141 (GRCm39) V567A possibly damaging Het
Arnt T C 3: 95,398,327 (GRCm39) probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Capn5 C T 7: 97,774,480 (GRCm39) R570H probably damaging Het
Cdh9 A T 15: 16,778,311 (GRCm39) D42V possibly damaging Het
Cdk17 T C 10: 93,044,123 (GRCm39) S21P probably damaging Het
Cdkl3 T A 11: 51,916,744 (GRCm39) F291I probably damaging Het
Cfap210 A T 2: 69,612,471 (GRCm39) probably benign Het
Clmn T C 12: 104,747,978 (GRCm39) E523G probably damaging Het
Cyp4f14 A T 17: 33,126,976 (GRCm39) I318N probably damaging Het
Daam1 T A 12: 72,036,659 (GRCm39) F1068L probably benign Het
Ext2 A G 2: 93,621,455 (GRCm39) probably benign Het
F5 T A 1: 164,003,914 (GRCm39) F236L probably benign Het
Fat2 A G 11: 55,153,394 (GRCm39) V3606A probably damaging Het
Gpam G A 19: 55,075,952 (GRCm39) T220M probably benign Het
Hyal1 C A 9: 107,456,338 (GRCm39) L342I probably damaging Het
Ilvbl C A 10: 78,419,127 (GRCm39) P459T possibly damaging Het
Itga5 A G 15: 103,259,997 (GRCm39) Y632H probably benign Het
Jkampl A T 6: 73,445,899 (GRCm39) L217M possibly damaging Het
Krt73 T C 15: 101,707,291 (GRCm39) D299G probably benign Het
Lcp1 T C 14: 75,461,573 (GRCm39) V522A probably benign Het
Lmo3 A G 6: 138,393,495 (GRCm39) C53R probably damaging Het
Nsun7 T C 5: 66,436,043 (GRCm39) V305A probably benign Het
Oprm1 T C 10: 6,779,186 (GRCm39) S196P probably damaging Het
Or2y1e G A 11: 49,218,958 (GRCm39) C240Y probably damaging Het
Or4z4 A T 19: 12,076,403 (GRCm39) I200N probably damaging Het
Or7e168 G A 9: 19,720,456 (GRCm39) V281M possibly damaging Het
Ovgp1 T C 3: 105,888,667 (GRCm39) probably null Het
Pcdhb20 T C 18: 37,639,768 (GRCm39) F765L possibly damaging Het
Ppp4r4 T C 12: 103,547,664 (GRCm39) V3A probably benign Het
Ruvbl1 A G 6: 88,474,253 (GRCm39) I419V probably benign Het
Scara5 T A 14: 65,927,224 (GRCm39) C40* probably null Het
Siglec1 T C 2: 130,916,314 (GRCm39) Q1212R probably benign Het
Slc31a1 G A 4: 62,306,273 (GRCm39) probably null Het
Tcf12 T C 9: 71,776,278 (GRCm39) probably null Het
Timm44 A T 8: 4,316,860 (GRCm39) F258I probably benign Het
Tm2d2 G T 8: 25,508,095 (GRCm39) V80L possibly damaging Het
Tpr A G 1: 150,320,199 (GRCm39) D2249G possibly damaging Het
Trim50 G T 5: 135,392,736 (GRCm39) G217V possibly damaging Het
Ugcg T C 4: 59,217,216 (GRCm39) probably null Het
Vmn2r107 A T 17: 20,565,868 (GRCm39) H61L probably benign Het
Zfp84 A G 7: 29,476,091 (GRCm39) H261R probably benign Het
Zswim2 A T 2: 83,748,301 (GRCm39) M293K probably benign Het
Other mutations in Sparc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Sparc APN 11 55,298,041 (GRCm39) splice site probably null
R1711:Sparc UTSW 11 55,286,602 (GRCm39) splice site probably null
R1840:Sparc UTSW 11 55,286,692 (GRCm39) missense probably damaging 1.00
R1859:Sparc UTSW 11 55,297,334 (GRCm39) critical splice donor site probably null
R2172:Sparc UTSW 11 55,286,627 (GRCm39) nonsense probably null
R4588:Sparc UTSW 11 55,296,062 (GRCm39) missense probably benign 0.00
R4860:Sparc UTSW 11 55,290,037 (GRCm39) missense possibly damaging 0.92
R4860:Sparc UTSW 11 55,290,037 (GRCm39) missense possibly damaging 0.92
R7748:Sparc UTSW 11 55,289,426 (GRCm39) missense probably benign 0.01
R7803:Sparc UTSW 11 55,300,797 (GRCm39) missense probably damaging 0.99
R8683:Sparc UTSW 11 55,292,783 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04