Incidental Mutation 'R1367:Slpi'
ID 156061
Institutional Source Beutler Lab
Gene Symbol Slpi
Ensembl Gene ENSMUSG00000017002
Gene Name secretory leukocyte peptidase inhibitor
Synonyms
MMRRC Submission 039432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1367 (G1)
Quality Score 103
Status Validated
Chromosome 2
Chromosomal Location 164195990-164231015 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 164196787 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
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 86.6%
Validation Efficiency 98% (48/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,261,250 (GRCm39) V676A probably damaging Het
Acvr1b T C 15: 101,091,819 (GRCm39) L33P possibly damaging Het
Adamts12 T G 15: 11,256,980 (GRCm39) probably benign Het
Ank1 T A 8: 23,601,819 (GRCm39) probably benign Het
Arhgef10 T A 8: 14,990,225 (GRCm39) D233E probably damaging Het
Cd209e T C 8: 3,899,084 (GRCm39) *209W probably null Het
Cebpz A G 17: 79,230,742 (GRCm39) V825A probably benign Het
Cep170 A G 1: 176,563,290 (GRCm39) F1575L probably damaging Het
Exoc2 A T 13: 31,066,256 (GRCm39) Y473* probably null Het
F3 A G 3: 121,523,023 (GRCm39) T78A probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Gga2 G A 7: 121,598,138 (GRCm39) R319* probably null Het
Gid8 A G 2: 180,355,025 (GRCm39) I10M probably benign Het
Glrb A G 3: 80,769,311 (GRCm39) W139R probably damaging Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Hectd3 G T 4: 116,854,367 (GRCm39) V310L probably null Het
Insyn1 G T 9: 58,406,263 (GRCm39) D58Y probably damaging Het
Kif17 C A 4: 138,005,305 (GRCm39) S290* probably null Het
Kif26b A G 1: 178,744,028 (GRCm39) N1375D probably damaging Het
Lgr4 C G 2: 109,821,480 (GRCm39) P121A probably damaging Het
Ly75 A G 2: 60,124,102 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nek3 T C 8: 22,650,377 (GRCm39) probably benign Het
Nin A T 12: 70,090,703 (GRCm39) L904Q probably damaging Het
Nlrp14 A G 7: 106,782,018 (GRCm39) D405G probably benign Het
Nuak1 C T 10: 84,228,192 (GRCm39) probably benign Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Plcg2 T A 8: 118,341,977 (GRCm39) W1113R probably damaging Het
Pms2 G A 5: 143,862,731 (GRCm39) V613M probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Pxk T G 14: 8,150,915 (GRCm38) probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Rictor T C 15: 6,820,119 (GRCm39) probably benign Het
Slc41a1 A G 1: 131,771,746 (GRCm39) T387A probably benign Het
Slc44a2 T C 9: 21,254,322 (GRCm39) V228A probably benign Het
Tkfc A G 19: 10,570,838 (GRCm39) S481P probably benign Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Tns3 T C 11: 8,398,704 (GRCm39) H1216R probably benign Het
Ugt2b38 A T 5: 87,571,973 (GRCm39) S20T probably benign Het
Usp48 T A 4: 137,366,606 (GRCm39) D921E possibly damaging Het
Usp48 T A 4: 137,371,774 (GRCm39) S967T probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zdhhc23 A G 16: 43,794,513 (GRCm39) S54P probably benign Het
Other mutations in Slpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03032:Slpi APN 2 164,197,367 (GRCm39) unclassified probably benign
IGL03356:Slpi APN 2 164,198,129 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- AGAGACTCTGAGAGCCATTCACCC -3'
(R):5'- GTGTTGCCTGAGCCCTAAGACATC -3'

Sequencing Primer
(F):5'- CTTACCCTGACAGGCTGC -3'
(R):5'- TAAGACATCGGCCCTGTGAATC -3'
Posted On 2014-02-11