Incidental Mutation 'IGL02128:Scpppq1'
ID 280960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scpppq1
Ensembl Gene ENSMUSG00000091034
Gene Name secretory calcium-binding phosphoprotein proline-glutamine rich 1
Synonyms Gm17660
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02128
Quality Score
Status
Chromosome 5
Chromosomal Location 104217930-104225474 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 104222569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031249] [ENSMUST00000164471] [ENSMUST00000178967] [ENSMUST00000198485]
AlphaFold B9UIU9
Predicted Effect probably benign
Transcript: ENSMUST00000031249
SMART Domains Protein: ENSMUSP00000031249
Gene: ENSMUSG00000029309

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 null
Transcript: ENSMUST00000164471
SMART Domains Protein: ENSMUSP00000132880
Gene: ENSMUSG00000091034

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 36 62 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178967
SMART Domains Protein: ENSMUSP00000136896
Gene: ENSMUSG00000091034

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 36 62 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198340
Predicted Effect probably null
Transcript: ENSMUST00000198485
SMART Domains Protein: ENSMUSP00000143623
Gene: ENSMUSG00000091034

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 36 62 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad1 A T 19: 32,664,727 (GRCm39) probably benign Het
Bard1 T C 1: 71,114,387 (GRCm39) K198R possibly damaging Het
Brca1 A G 11: 101,421,808 (GRCm39) probably benign Het
Col6a5 T C 9: 105,817,093 (GRCm39) E406G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxcr2 A G 1: 74,198,153 (GRCm39) T216A probably benign Het
Dnah7a C T 1: 53,476,672 (GRCm39) S3424N probably damaging Het
Golgb1 T G 16: 36,736,666 (GRCm39) L1971R probably damaging Het
Hspg2 T G 4: 137,291,327 (GRCm39) C3892W probably damaging Het
Jmjd1c T C 10: 67,079,648 (GRCm39) L2214P probably damaging Het
Klkb1 A T 8: 45,740,068 (GRCm39) F75I probably damaging Het
Loxl3 T A 6: 83,027,564 (GRCm39) V702E probably damaging Het
Pcdh18 T A 3: 49,711,135 (GRCm39) N60I possibly damaging Het
Pex5 A T 6: 124,375,419 (GRCm39) N534K probably damaging Het
Ppp1r16a T A 15: 76,578,178 (GRCm39) L383Q probably benign Het
Rp1 A G 1: 4,417,608 (GRCm39) V1168A probably damaging Het
Slc2a2 A G 3: 28,773,550 (GRCm39) E285G probably damaging Het
Stab1 T A 14: 30,872,398 (GRCm39) N1171I probably damaging Het
Vcl A G 14: 21,070,645 (GRCm39) I744V probably benign Het
Other mutations in Scpppq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0499:Scpppq1 UTSW 5 104,222,747 (GRCm39) nonsense probably null
R1707:Scpppq1 UTSW 5 104,222,099 (GRCm39) unclassified probably benign
R6543:Scpppq1 UTSW 5 104,222,741 (GRCm39) unclassified probably benign
R6848:Scpppq1 UTSW 5 104,222,603 (GRCm39) unclassified probably benign
R7375:Scpppq1 UTSW 5 104,219,123 (GRCm39) splice site probably null
R8711:Scpppq1 UTSW 5 104,219,956 (GRCm39) missense unknown
RF005:Scpppq1 UTSW 5 104,222,725 (GRCm39) critical splice donor site probably null
RF024:Scpppq1 UTSW 5 104,222,725 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16