Incidental Mutation 'IGL00653:Sparcl1'
ID 14198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sparcl1
Ensembl Gene ENSMUSG00000029309
Gene Name SPARC-like 1
Synonyms hevin, Ecm2, mast9, Sc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00653
Quality Score
Status
Chromosome 5
Chromosomal Location 104226977-104261599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104240788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 212 (G212D)
Ref Sequence ENSEMBL: ENSMUSP00000143177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031249] [ENSMUST00000199947]
AlphaFold P70663
Predicted Effect probably benign
Transcript: ENSMUST00000031249
AA Change: G212D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000031249
Gene: ENSMUSG00000029309
AA Change: G212D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
low complexity region 90 101 N/A INTRINSIC
low complexity region 192 210 N/A INTRINSIC
low complexity region 330 340 N/A INTRINSIC
low complexity region 372 381 N/A INTRINSIC
FOLN 418 441 2.33e-5 SMART
KAZAL 441 495 3.62e-11 SMART
Pfam:SPARC_Ca_bdg 498 636 2.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199947
AA Change: G212D

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143177
Gene: ENSMUSG00000029309
AA Change: G212D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
low complexity region 90 101 N/A INTRINSIC
low complexity region 192 210 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal histology and survival. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(1) Gene trapped(4)

Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 T C 7: 51,216,261 (GRCm39) S373P probably damaging Het
Ccl8 C T 11: 82,007,428 (GRCm39) L88F probably damaging Het
Ces2c A T 8: 105,576,368 (GRCm39) Y127F possibly damaging Het
Glp1r T C 17: 31,149,734 (GRCm39) S333P probably damaging Het
Mycbp2 T C 14: 103,380,664 (GRCm39) N3664S probably damaging Het
N4bp1 T C 8: 87,588,354 (GRCm39) S195G probably benign Het
Scaper A T 9: 55,767,143 (GRCm39) N429K probably damaging Het
Other mutations in Sparcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Sparcl1 APN 5 104,242,581 (GRCm39) missense possibly damaging 0.88
IGL01958:Sparcl1 APN 5 104,240,406 (GRCm39) missense probably benign 0.30
IGL02749:Sparcl1 APN 5 104,240,746 (GRCm39) missense possibly damaging 0.57
IGL03034:Sparcl1 APN 5 104,241,103 (GRCm39) missense probably damaging 0.96
ANU05:Sparcl1 UTSW 5 104,242,581 (GRCm39) missense possibly damaging 0.88
R0007:Sparcl1 UTSW 5 104,234,946 (GRCm39) missense probably damaging 1.00
R0007:Sparcl1 UTSW 5 104,234,946 (GRCm39) missense probably damaging 1.00
R0071:Sparcl1 UTSW 5 104,233,707 (GRCm39) nonsense probably null
R0071:Sparcl1 UTSW 5 104,233,707 (GRCm39) nonsense probably null
R0278:Sparcl1 UTSW 5 104,236,263 (GRCm39) missense probably benign 0.16
R0360:Sparcl1 UTSW 5 104,237,503 (GRCm39) missense probably damaging 0.99
R0581:Sparcl1 UTSW 5 104,241,178 (GRCm39) missense probably damaging 0.99
R1755:Sparcl1 UTSW 5 104,240,690 (GRCm39) missense probably benign 0.12
R1807:Sparcl1 UTSW 5 104,233,627 (GRCm39) missense probably damaging 1.00
R1925:Sparcl1 UTSW 5 104,241,220 (GRCm39) missense probably benign 0.09
R2110:Sparcl1 UTSW 5 104,236,289 (GRCm39) missense probably damaging 1.00
R2112:Sparcl1 UTSW 5 104,236,289 (GRCm39) missense probably damaging 1.00
R2331:Sparcl1 UTSW 5 104,233,660 (GRCm39) missense probably damaging 1.00
R2567:Sparcl1 UTSW 5 104,232,954 (GRCm39) missense probably damaging 1.00
R3029:Sparcl1 UTSW 5 104,241,092 (GRCm39) missense possibly damaging 0.59
R3104:Sparcl1 UTSW 5 104,241,203 (GRCm39) missense probably benign 0.00
R3106:Sparcl1 UTSW 5 104,241,203 (GRCm39) missense probably benign 0.00
R3979:Sparcl1 UTSW 5 104,240,647 (GRCm39) missense probably benign 0.00
R4772:Sparcl1 UTSW 5 104,236,356 (GRCm39) missense probably benign 0.15
R4967:Sparcl1 UTSW 5 104,240,776 (GRCm39) missense probably damaging 1.00
R5095:Sparcl1 UTSW 5 104,233,629 (GRCm39) missense probably damaging 1.00
R5103:Sparcl1 UTSW 5 104,233,629 (GRCm39) missense probably damaging 1.00
R5105:Sparcl1 UTSW 5 104,233,629 (GRCm39) missense probably damaging 1.00
R5140:Sparcl1 UTSW 5 104,233,629 (GRCm39) missense probably damaging 1.00
R5149:Sparcl1 UTSW 5 104,233,629 (GRCm39) missense probably damaging 1.00
R6245:Sparcl1 UTSW 5 104,233,013 (GRCm39) missense probably damaging 1.00
R6387:Sparcl1 UTSW 5 104,232,926 (GRCm39) missense probably damaging 1.00
R6544:Sparcl1 UTSW 5 104,240,310 (GRCm39) nonsense probably null
R6930:Sparcl1 UTSW 5 104,234,940 (GRCm39) missense probably damaging 1.00
R7246:Sparcl1 UTSW 5 104,233,023 (GRCm39) missense probably benign 0.00
R8490:Sparcl1 UTSW 5 104,233,574 (GRCm39) missense probably null 1.00
R8860:Sparcl1 UTSW 5 104,241,218 (GRCm39) missense probably benign 0.25
R8899:Sparcl1 UTSW 5 104,240,590 (GRCm39) missense probably benign 0.01
R9047:Sparcl1 UTSW 5 104,240,979 (GRCm39) missense possibly damaging 0.90
R9215:Sparcl1 UTSW 5 104,240,701 (GRCm39) missense probably benign 0.05
R9284:Sparcl1 UTSW 5 104,236,345 (GRCm39) nonsense probably null
R9424:Sparcl1 UTSW 5 104,241,030 (GRCm39) missense possibly damaging 0.91
R9622:Sparcl1 UTSW 5 104,234,998 (GRCm39) missense possibly damaging 0.62
Protein Function and Prediction

Sparcl1 encodes Hevin/Sc1, an matricellular secreted glycoprotein in the SPARC family (1). Hevin has three major domains: an N-terminal acidic domain, a follistatin-like domain, and the extracellular calcium-binding domain (1). The follistain-like domain is homologous to a domain in follistatin, a protein that inhibits members of the TGF-β superfamily (1).  Hevin has been shown to inhibit the attachment and spreading of endothelial cells and to reduce focal adhesion formation by endothelial cells (2). Therefore, the proposed function of hevin is to modulate cell migration. Girard and Springer propose that hevin participates in lymphocyte transendothelial migration and might alter vascular permeability (2). The related protein, SPARC, functions as a cell cycle inhibitor, de-adhesive protein, a regulator of growth factor activity, and modulatory cell-matrix interactions (3).

Northern blot analysis detected expression of Sparcl1 in lymph node, brain, heart, lung, skeletal muscle, ovary, small intestine, and colon, with lower levels in placenta, pancreas, testis, spleen, and thymus, and no expression in kidney, liver, and peripheral blood leukocytes (4).

Sparcl1tm1Pmc/tm1Pmc; MGI:2153047

involves: 129S1/Sv

Homozygotes exhibit stunted and less branched processes extending from extending from Purkinje cell bodies compared to in wild-type mice and exhibit an increase in glial cells compared to in wild-type mice (5).

Sparcl1tm1Pmc/tm1Pmc; MGI:2153047

involves: 129S1/Sv * C57BL/6

Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal histology and survival (6).

References
Posted On 2012-12-06
Science Writer Anne Murray