Incidental Mutation 'IGL03032:Slpi'
ID 408507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slpi
Ensembl Gene ENSMUSG00000017002
Gene Name secretory leukocyte peptidase inhibitor
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03032
Quality Score
Status
Chromosome 2
Chromosomal Location 164195990-164231015 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 164197367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109367] [ENSMUST00000165980] [ENSMUST00000167427]
AlphaFold P97430
Predicted Effect probably benign
Transcript: ENSMUST00000109367
SMART Domains Protein: ENSMUSP00000104992
Gene: ENSMUSG00000017002

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 77 7.06e-5 SMART
WAP 86 131 1.11e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165980
SMART Domains Protein: ENSMUSP00000128025
Gene: ENSMUSG00000017002

DomainStartEndE-ValueType
WAP 8 53 7.06e-5 SMART
WAP 62 107 1.11e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185076
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 secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice been independently reported to exhibit increased susceptibility to LPS-induced endotoxin shock with elevated production of IL-6, impaired cutaneous wound healing with increased inflammation and elastase activity, and high susceptibility to pulmonary mycobacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,119,774 (GRCm39) Y177F possibly damaging Het
Als2 C A 1: 59,255,189 (GRCm39) probably benign Het
Arhgap44 A G 11: 64,915,038 (GRCm39) L410P probably damaging Het
Atp13a2 C T 4: 140,727,666 (GRCm39) A481V possibly damaging Het
Bod1l C A 5: 41,988,927 (GRCm39) L393F probably benign Het
Cflar T A 1: 58,780,179 (GRCm39) I258N probably damaging Het
Col24a1 T C 3: 145,244,458 (GRCm39) probably null Het
Csmd2 A T 4: 128,412,834 (GRCm39) N2542I probably benign Het
Cyp2b9 T C 7: 25,898,025 (GRCm39) probably benign Het
Dip2c A T 13: 9,601,814 (GRCm39) I258F probably damaging Het
Dock7 A G 4: 98,854,585 (GRCm39) S1560P probably benign Het
Drc7 C T 8: 95,802,875 (GRCm39) probably benign Het
Gm3667 T A 14: 18,269,522 (GRCm39) S203C probably null Het
Gramd2a A G 9: 59,619,410 (GRCm39) E190G probably benign Het
Gstm4 T C 3: 107,951,263 (GRCm39) D8G probably damaging Het
Heatr5b A T 17: 79,067,928 (GRCm39) M1820K probably benign Het
Irs4 A G X: 140,505,794 (GRCm39) Y801H unknown Het
Loxhd1 C T 18: 77,374,169 (GRCm39) T80I possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Mapk8ip1 T G 2: 92,216,958 (GRCm39) K446Q probably damaging Het
Mettl21e C A 1: 44,249,319 (GRCm39) probably null Het
Mmp8 T A 9: 7,558,530 (GRCm39) probably benign Het
Muc19 A T 15: 91,808,424 (GRCm39) noncoding transcript Het
Nipsnap3b T A 4: 53,015,016 (GRCm39) V21E possibly damaging Het
Or1j15 C A 2: 36,458,716 (GRCm39) Y35* probably null Het
Or5al6 A G 2: 85,977,043 (GRCm39) F12L probably damaging Het
Or7a38 A T 10: 78,753,471 (GRCm39) I266F probably benign Het
Parp12 G A 6: 39,064,520 (GRCm39) probably null Het
Pramel14 C A 4: 143,719,815 (GRCm39) L183F probably damaging Het
Rgsl1 T A 1: 153,701,948 (GRCm39) T169S possibly damaging Het
Rnf38 T C 4: 44,152,529 (GRCm39) R12G probably damaging Het
Slc9c1 T C 16: 45,363,624 (GRCm39) probably benign Het
Snx17 G A 5: 31,353,355 (GRCm39) V165I probably benign Het
Tnfaip3 A G 10: 18,880,357 (GRCm39) V570A probably benign Het
Vmn1r63 A G 7: 5,806,350 (GRCm39) M94T probably benign Het
Vmn2r95 A G 17: 18,672,575 (GRCm39) I771V probably benign Het
Wiz A G 17: 32,575,532 (GRCm39) V868A probably benign Het
Other mutations in Slpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03356:Slpi APN 2 164,198,129 (GRCm39) missense probably benign 0.00
R1367:Slpi UTSW 2 164,196,787 (GRCm39) unclassified probably benign
R1459:Slpi UTSW 2 164,196,837 (GRCm39) missense probably damaging 1.00
R1991:Slpi UTSW 2 164,197,463 (GRCm39) missense probably damaging 1.00
R2103:Slpi UTSW 2 164,197,463 (GRCm39) missense probably damaging 1.00
R3801:Slpi UTSW 2 164,198,158 (GRCm39) missense probably damaging 1.00
R6473:Slpi UTSW 2 164,196,846 (GRCm39) missense probably damaging 1.00
R7253:Slpi UTSW 2 164,197,467 (GRCm39) missense probably benign 0.01
R7264:Slpi UTSW 2 164,198,322 (GRCm39) start gained probably benign
R8359:Slpi UTSW 2 164,197,975 (GRCm39) start codon destroyed probably null
R8722:Slpi UTSW 2 164,197,975 (GRCm39) start codon destroyed probably null
R9203:Slpi UTSW 2 164,196,817 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02