Incidental Mutation 'R8359:Slpi'
ID 645902
Institutional Source Beutler Lab
Gene Symbol Slpi
Ensembl Gene ENSMUSG00000017002
Gene Name secretory leukocyte peptidase inhibitor
Synonyms
MMRRC Submission 067872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8359 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164195990-164231015 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 164197975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000128025 (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 null
Transcript: ENSMUST00000165980
AA Change: M1K
SMART Domains Protein: ENSMUSP00000128025
Gene: ENSMUSG00000017002
AA Change: M1K

DomainStartEndE-ValueType
WAP 8 53 7.06e-5 SMART
WAP 62 107 1.11e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167427
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,296,502 (GRCm39) V315D probably damaging Het
Adgrf1 A T 17: 43,621,286 (GRCm39) I508F probably damaging Het
Atpaf2 T C 11: 60,298,129 (GRCm39) D147G probably damaging Het
Brwd1 T C 16: 95,817,409 (GRCm39) T1368A probably damaging Het
Cacna1s A T 1: 136,043,799 (GRCm39) E1626V probably benign Het
Carm1 G A 9: 21,480,765 (GRCm39) V80I possibly damaging Het
Cenpw T A 10: 30,074,484 (GRCm39) D71V probably damaging Het
Cit T A 5: 116,122,603 (GRCm39) probably null Het
Ckmt1 A T 2: 121,193,531 (GRCm39) T364S probably benign Het
Col6a4 T C 9: 105,945,583 (GRCm39) S844G probably benign Het
Crybg1 T C 10: 43,868,538 (GRCm39) E1380G probably benign Het
Cyp21a1 A G 17: 35,021,105 (GRCm39) probably null Het
Dhodh A C 8: 110,333,038 (GRCm39) D12E probably benign Het
Dnali1 T A 4: 124,957,460 (GRCm39) T95S probably damaging Het
Dynlrb1 A G 2: 155,091,870 (GRCm39) N93D probably benign Het
Edem1 C T 6: 108,823,774 (GRCm39) A390V probably benign Het
Enthd1 T C 15: 80,358,356 (GRCm39) D388G probably benign Het
Fam170a A G 18: 50,414,677 (GRCm39) T108A probably damaging Het
Fryl A G 5: 73,233,276 (GRCm39) S1531P probably benign Het
Golm2 A T 2: 121,697,632 (GRCm39) probably benign Het
Hspbap1 C A 16: 35,645,366 (GRCm39) N350K probably benign Het
Htr3b A C 9: 48,858,596 (GRCm39) S94R probably damaging Het
Ide A T 19: 37,307,886 (GRCm39) V42E Het
Igf2r A G 17: 12,902,748 (GRCm39) V2434A probably benign Het
Katnip T C 7: 125,468,023 (GRCm39) probably null Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Mccc1 C T 3: 36,018,493 (GRCm39) V614I probably benign Het
Mos A G 4: 3,871,097 (GRCm39) Y240H probably damaging Het
Myh11 C T 16: 14,026,095 (GRCm39) probably null Het
Nexn T A 3: 151,953,998 (GRCm39) D166V probably damaging Het
Or10h1b G A 17: 33,395,895 (GRCm39) C173Y probably damaging Het
Or2t47 G T 11: 58,443,029 (GRCm39) T12N probably benign Het
Or4p4 A T 2: 88,483,332 (GRCm39) M279L probably benign Het
Or5p81 T A 7: 108,267,518 (GRCm39) N298K probably benign Het
Pkp4 A G 2: 59,180,895 (GRCm39) Y1061C probably damaging Het
Pla2g6 T C 15: 79,171,370 (GRCm39) D740G probably damaging Het
Pla2r1 T A 2: 60,273,627 (GRCm39) I920L probably benign Het
Plekha2 A G 8: 25,578,407 (GRCm39) I31T probably damaging Het
Ppp1r16b G T 2: 158,603,295 (GRCm39) V407L probably benign Het
Prss50 A G 9: 110,691,370 (GRCm39) I225V probably damaging Het
Rmdn2 A T 17: 79,935,580 (GRCm39) E231V Het
Sema3c T C 5: 17,858,726 (GRCm39) S42P possibly damaging Het
Sh2d1b1 T A 1: 170,110,693 (GRCm39) probably null Het
Slc22a20 T C 19: 6,021,554 (GRCm39) I483V probably benign Het
Slc30a2 T C 4: 134,076,690 (GRCm39) V275A probably damaging Het
Slc6a3 T A 13: 73,693,002 (GRCm39) F207L probably benign Het
Slc9a1 A T 4: 133,147,927 (GRCm39) Q648H probably damaging Het
Smc5 A C 19: 23,211,443 (GRCm39) S564A possibly damaging Het
Smchd1 A T 17: 71,738,238 (GRCm39) F542L probably damaging Het
Sycp1 T A 3: 102,727,909 (GRCm39) K901N probably damaging Het
Synpo2l T A 14: 20,716,208 (GRCm39) T126S probably benign Het
Upp2 A G 2: 58,667,955 (GRCm39) N216S probably benign Het
Wnk1 T C 6: 119,969,408 (GRCm39) D349G probably damaging Het
Zfp180 C T 7: 23,804,337 (GRCm39) A252V probably benign Het
Zfr2 C T 10: 81,078,653 (GRCm39) T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 (GRCm39) T504I possibly damaging 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
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
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'- AGGGCTAAGCAAGATCTCAC -3'
(R):5'- AAGTCCTGCGGCCTTTTACC -3'

Sequencing Primer
(F):5'- GGGCTAAGCAAGATCTCACAAAGAC -3'
(R):5'- GCTCCTTGCTCTGGGGATC -3'
Posted On 2020-09-02