Incidental Mutation 'R0581:Sparcl1'
ID 56418
Institutional Source Beutler Lab
Gene Symbol Sparcl1
Ensembl Gene ENSMUSG00000029309
Gene Name SPARC-like 1
Synonyms hevin, Ecm2, mast9, Sc1
MMRRC Submission 038771-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0581 (G1)
Quality Score 136
Status Validated
Chromosome 5
Chromosomal Location 104226977-104261599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104241178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 82 (D82G)
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: D82G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031249
Gene: ENSMUSG00000029309
AA Change: D82G

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 damaging
Transcript: ENSMUST00000199947
AA Change: D82G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143177
Gene: ENSMUSG00000029309
AA Change: D82G

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 95% (42/44)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,100,620 (GRCm39) T2761A probably benign Het
Apold1 G A 6: 134,960,776 (GRCm39) V77I probably benign Het
Atad2 T C 15: 57,990,060 (GRCm39) T139A probably benign Het
Cacna1a A T 8: 85,328,565 (GRCm39) I1668F possibly damaging Het
Ccer2 T A 7: 28,456,451 (GRCm39) probably benign Het
Cyp2c54 T A 19: 40,035,999 (GRCm39) T304S probably benign Het
Dpp4 T A 2: 62,187,020 (GRCm39) M497L probably benign Het
Evpl T A 11: 116,120,316 (GRCm39) I541L probably benign Het
Ggn A G 7: 28,871,729 (GRCm39) T370A probably benign Het
Ghr A G 15: 3,418,116 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gpr68 G C 12: 100,844,815 (GRCm39) P243R probably damaging Het
Gtf3c2 G T 5: 31,316,862 (GRCm39) Y720* probably null Het
Il2rb T A 15: 78,366,136 (GRCm39) Y387F possibly damaging Het
Kcnu1 T A 8: 26,427,529 (GRCm39) V282E probably damaging Het
Krt222 G A 11: 99,127,018 (GRCm39) Q201* probably null Het
Lats1 A G 10: 7,578,705 (GRCm39) T610A possibly damaging Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Myh7 T C 14: 55,222,953 (GRCm39) I751V probably benign Het
Mypn A G 10: 62,998,023 (GRCm39) I429T probably benign Het
Nemf A T 12: 69,369,045 (GRCm39) D723E probably benign Het
Nlrp4b T C 7: 10,448,457 (GRCm39) L220P probably damaging Het
Npr3 T A 15: 11,851,536 (GRCm39) D418V probably damaging Het
Nsd3 A G 8: 26,200,718 (GRCm39) N1270S probably damaging Het
Or1j15 T C 2: 36,458,834 (GRCm39) S75P probably damaging Het
Or2g1 A G 17: 38,106,993 (GRCm39) I219M probably damaging Het
Otogl G A 10: 107,624,901 (GRCm39) T1579I possibly damaging Het
Pkp2 T A 16: 16,087,647 (GRCm39) probably benign Het
Psd3 T C 8: 68,173,598 (GRCm39) Y301C probably damaging Het
Psmb4 T C 3: 94,793,479 (GRCm39) H134R probably damaging Het
Ralgapb A G 2: 158,334,881 (GRCm39) T1043A probably benign Het
Sec14l5 T A 16: 4,996,349 (GRCm39) probably null Het
Serpina12 T A 12: 103,997,399 (GRCm39) Q374L probably damaging Het
Serpinb10 C T 1: 107,474,692 (GRCm39) R362* probably null Het
Sorcs1 T A 19: 50,241,139 (GRCm39) I416F possibly damaging Het
Stat6 A T 10: 127,483,985 (GRCm39) Q89L probably damaging Het
Tat A G 8: 110,718,270 (GRCm39) T52A possibly damaging Het
Yipf7 T A 5: 69,678,406 (GRCm39) I128F probably benign Het
Zfp112 T A 7: 23,825,288 (GRCm39) C419S probably damaging Het
Zzef1 A G 11: 72,742,726 (GRCm39) I769V probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GTCACTTACAGGTTGCTCCTGACTC -3'
(R):5'- AGGCTAACCCTGTGCTCTAGAATGG -3'

Sequencing Primer
(F):5'- ATCCACATAGGAAGTGGACAC -3'
(R):5'- cactagaagagagcatcagatcc -3'
Posted On 2013-07-11