Incidental Mutation 'R3029:Sparcl1'
ID 265903
Institutional Source Beutler Lab
Gene Symbol Sparcl1
Ensembl Gene ENSMUSG00000029309
Gene Name SPARC-like 1
Synonyms hevin, Ecm2, mast9, Sc1
MMRRC Submission 040545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3029 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104226977-104261599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104241092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 111 (T111A)
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: T111A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031249
Gene: ENSMUSG00000029309
AA Change: T111A

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 possibly damaging
Transcript: ENSMUST00000199947
AA Change: T111A

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143177
Gene: ENSMUSG00000029309
AA Change: T111A

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A G 1: 85,645,966 (GRCm39) I213T probably benign Het
Atp8a2 CGT CGTGT 14: 59,928,914 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdk6 G A 5: 3,440,817 (GRCm39) probably null Het
Cryab T A 9: 50,667,638 (GRCm39) I124N probably damaging Het
E2f5 A G 3: 14,668,725 (GRCm39) I206V probably benign Het
Eya4 T C 10: 22,999,776 (GRCm39) T396A probably benign Het
Fat2 T C 11: 55,175,535 (GRCm39) Y1726C probably damaging Het
Gad1 G A 2: 70,425,034 (GRCm39) V443I probably benign Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Ighv7-2 A G 12: 113,876,100 (GRCm39) F2L probably benign Het
Itgad T A 7: 127,777,543 (GRCm39) I141N possibly damaging Het
Kcnh1 C T 1: 192,188,368 (GRCm39) T970M probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nlrp1a T A 11: 71,014,456 (GRCm39) T265S probably damaging Het
Nsun4 A G 4: 115,909,922 (GRCm39) S213P possibly damaging Het
Pkdrej C T 15: 85,701,205 (GRCm39) R1577Q probably benign Het
Proz A T 8: 13,111,042 (GRCm39) I5F probably benign Het
Rbm48 A T 5: 3,646,043 (GRCm39) F54I possibly damaging Het
Rgs20 T C 1: 5,140,276 (GRCm39) D42G probably benign Het
Rxfp2 A C 5: 149,966,595 (GRCm39) D111A probably benign Het
Vmn2r14 T A 5: 109,363,776 (GRCm39) L713F probably damaging Het
Other mutations in Sparcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Sparcl1 APN 5 104,240,788 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGGTGTGAGTCACTTAC -3'
(R):5'- CTAACCCTGTGCTCTAGAATGG -3'

Sequencing Primer
(F):5'- GTGAGTCACTTACAGGTTGCTCC -3'
(R):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
Posted On 2015-02-05