Incidental Mutation 'IGL03356:Slpi'
ID 419956
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 # IGL03356
Quality Score
Status
Chromosome 2
Chromosomal Location 164195990-164231015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164198129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
Ref Sequence ENSEMBL: ENSMUSP00000104992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109367] [ENSMUST00000165980] [ENSMUST00000167427]
AlphaFold P97430
Predicted Effect probably benign
Transcript: ENSMUST00000109367
AA Change: T22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104992
Gene: ENSMUSG00000017002
AA Change: T22A

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
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A C 15: 60,791,737 (GRCm39) M233R probably benign Het
Aadat T C 8: 60,984,725 (GRCm39) M256T probably damaging Het
Adamts16 T C 13: 70,901,410 (GRCm39) N889S probably benign Het
Camkk2 A T 5: 122,881,937 (GRCm39) I235N probably damaging Het
Card6 C T 15: 5,129,723 (GRCm39) A558T probably benign Het
Ccdc175 T G 12: 72,186,667 (GRCm39) probably null Het
Crot A G 5: 9,038,295 (GRCm39) probably benign Het
Cyp2c67 A G 19: 39,628,405 (GRCm39) S180P probably damaging Het
Ddx55 A G 5: 124,692,816 (GRCm39) N81S possibly damaging Het
Dennd3 C T 15: 73,440,482 (GRCm39) T1171M probably benign Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dpp8 T A 9: 64,953,069 (GRCm39) N248K probably benign Het
Ganc T C 2: 120,265,769 (GRCm39) I439T probably benign Het
Gdpgp1 T C 7: 79,888,443 (GRCm39) I158T possibly damaging Het
Grm3 T C 5: 9,562,206 (GRCm39) D548G possibly damaging Het
H2-DMb1 T A 17: 34,376,514 (GRCm39) probably benign Het
Hecw2 A G 1: 53,966,217 (GRCm39) probably benign Het
Hs3st2 A G 7: 120,992,389 (GRCm39) E113G probably damaging Het
Hspa4 C A 11: 53,160,627 (GRCm39) R483L probably damaging Het
Ik C A 18: 36,889,657 (GRCm39) S490R probably damaging Het
Ldlrad1 G A 4: 107,072,035 (GRCm39) V86M possibly damaging Het
Mfsd4b1 A C 10: 39,878,827 (GRCm39) F357V probably damaging Het
Ndufa9 A G 6: 126,821,813 (GRCm39) V54A possibly damaging Het
Nfe2l2 A G 2: 75,509,544 (GRCm39) I92T probably benign Het
Oas1a A G 5: 121,043,908 (GRCm39) S75P probably damaging Het
Oca2 T G 7: 56,185,716 (GRCm39) M814R probably benign Het
Phlpp2 A G 8: 110,662,249 (GRCm39) T879A probably benign Het
Potefam3e A G 8: 19,799,463 (GRCm39) I304V probably benign Het
Rpe65 A T 3: 159,321,214 (GRCm39) Y342F possibly damaging Het
Satb2 T C 1: 56,930,333 (GRCm39) K230R probably damaging Het
Slc4a4 A G 5: 89,270,342 (GRCm39) T297A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Synj1 A G 16: 90,784,280 (GRCm39) F286S probably damaging Het
Tektl1 A G 10: 78,582,966 (GRCm39) C473R possibly damaging Het
Tigd2 T A 6: 59,188,690 (GRCm39) I519K probably benign Het
Tyr G T 7: 87,141,922 (GRCm39) L136I possibly damaging Het
Vmn1r34 A T 6: 66,613,970 (GRCm39) M256K probably benign Het
Zmym2 T A 14: 57,194,517 (GRCm39) C1258* probably null Het
Other mutations in Slpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03032:Slpi APN 2 164,197,367 (GRCm39) unclassified probably benign
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