Incidental Mutation 'IGL02302:Sppl3'
ID 287419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sppl3
Ensembl Gene ENSMUSG00000029550
Gene Name signal peptide peptidase 3
Synonyms 4833416I09Rik, Usmg3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.645) question?
Stock # IGL02302
Quality Score
Status
Chromosome 5
Chromosomal Location 115149204-115236849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115220390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 101 (C101S)
Ref Sequence ENSEMBL: ENSMUSP00000031530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031530] [ENSMUST00000128590]
AlphaFold Q9CUS9
Predicted Effect probably benign
Transcript: ENSMUST00000031530
AA Change: C101S

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: C101S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PSN 64 361 1.96e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128590
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit growth retardation, decreased fertility and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,422,257 (GRCm39) Q211L possibly damaging Het
Abca14 T A 7: 119,917,968 (GRCm39) probably benign Het
Abcb10 A T 8: 124,685,411 (GRCm39) V543D possibly damaging Het
Ankrd17 G A 5: 90,431,057 (GRCm39) T909I probably benign Het
Arhgef3 A G 14: 27,084,799 (GRCm39) N76S probably benign Het
Bbx A T 16: 50,045,278 (GRCm39) C320S probably damaging Het
Castor2 G A 5: 134,164,482 (GRCm39) V148I possibly damaging Het
Cdh23 C A 10: 60,159,302 (GRCm39) V2159F possibly damaging Het
Cmtr2 G A 8: 110,948,136 (GRCm39) A149T probably damaging Het
Cntnap4 A G 8: 113,512,535 (GRCm39) probably benign Het
Col6a3 A T 1: 90,709,482 (GRCm39) F1905I unknown Het
Ddx60 A G 8: 62,428,866 (GRCm39) Y792C possibly damaging Het
Dennd2b A G 7: 109,124,538 (GRCm39) V1101A probably damaging Het
Dock4 T C 12: 40,775,776 (GRCm39) L573P probably damaging Het
Dop1b A G 16: 93,607,005 (GRCm39) I2103V probably benign Het
Ear1 T G 14: 44,056,504 (GRCm39) Q121H probably benign Het
Eprs1 T A 1: 185,119,321 (GRCm39) probably benign Het
Ero1a T C 14: 45,530,619 (GRCm39) K271R probably benign Het
Esyt1 A G 10: 128,348,236 (GRCm39) L884P probably damaging Het
F2r T C 13: 95,741,160 (GRCm39) N125S probably damaging Het
Fam217a T C 13: 35,095,144 (GRCm39) E357G probably damaging Het
Gabbr1 C T 17: 37,365,689 (GRCm39) R123W probably damaging Het
Gimap4 T G 6: 48,667,347 (GRCm39) V34G probably damaging Het
Gm3248 A T 14: 5,943,011 (GRCm38) V180E probably benign Het
Hecw2 A T 1: 53,972,407 (GRCm39) N204K probably damaging Het
Ighv1-84 T A 12: 115,944,549 (GRCm39) K42* probably null Het
Kcnh7 T A 2: 62,536,402 (GRCm39) Q1060L probably damaging Het
Kif3b T A 2: 153,158,868 (GRCm39) I223N probably damaging Het
Lama2 G A 10: 27,088,039 (GRCm39) P913S probably benign Het
Lgr4 A G 2: 109,832,841 (GRCm39) I334M probably damaging Het
Lrrc45 G T 11: 120,609,351 (GRCm39) E403D possibly damaging Het
Mccc2 A G 13: 100,090,747 (GRCm39) L462P probably damaging Het
Mfsd13b T C 7: 120,598,132 (GRCm39) V346A probably damaging Het
Muc6 T C 7: 141,227,763 (GRCm39) T1342A possibly damaging Het
Mxd3 T C 13: 55,477,091 (GRCm39) N56S probably benign Het
Niban2 A G 2: 32,811,135 (GRCm39) I382V probably benign Het
Ntn5 G T 7: 45,343,672 (GRCm39) R337L probably damaging Het
Nynrin A G 14: 56,105,962 (GRCm39) K894E probably benign Het
Or1j4 G T 2: 36,740,715 (GRCm39) G219V probably benign Het
Or2a25 T A 6: 42,889,272 (GRCm39) Y272N probably damaging Het
Or4f56 A C 2: 111,703,887 (GRCm39) S104R possibly damaging Het
Or7e168 A T 9: 19,719,981 (GRCm39) R122S probably damaging Het
Pappa2 T C 1: 158,542,571 (GRCm39) D1772G probably benign Het
Pcdh18 G T 3: 49,710,387 (GRCm39) F309L probably benign Het
Pcdhac2 G T 18: 37,279,006 (GRCm39) R662L probably damaging Het
Ppp5c G A 7: 16,742,555 (GRCm39) S261L possibly damaging Het
Qng1 G A 13: 58,529,749 (GRCm39) R288W probably damaging Het
Rc3h1 T C 1: 160,765,675 (GRCm39) probably benign Het
Rfx8 A C 1: 39,704,682 (GRCm39) S578A possibly damaging Het
Rhbdl3 T G 11: 80,244,507 (GRCm39) *405E probably null Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf139 G T 15: 58,770,606 (GRCm39) L210F probably damaging Het
Rragc A G 4: 123,814,879 (GRCm39) R192G possibly damaging Het
Ryr3 A T 2: 112,794,701 (GRCm39) V137E probably damaging Het
S100pbp A T 4: 129,076,234 (GRCm39) D30E probably damaging Het
Smchd1 A T 17: 71,665,128 (GRCm39) probably benign Het
St8sia6 T C 2: 13,728,324 (GRCm39) T74A probably benign Het
Sult3a1 A G 10: 33,742,571 (GRCm39) N66S possibly damaging Het
Sv2b T A 7: 74,773,947 (GRCm39) K508M probably damaging Het
Terf1 T C 1: 15,903,626 (GRCm39) S275P probably damaging Het
Tmed8 G T 12: 87,220,990 (GRCm39) H199N probably damaging Het
Tubg2 A T 11: 101,046,971 (GRCm39) Q9L probably damaging Het
Ubxn4 C T 1: 128,183,848 (GRCm39) probably benign Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Zfp213 A G 17: 23,776,945 (GRCm39) S366P possibly damaging Het
Other mutations in Sppl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Sppl3 APN 5 115,212,935 (GRCm39) missense probably benign
IGL02381:Sppl3 APN 5 115,212,969 (GRCm39) splice site probably null
IGL02592:Sppl3 APN 5 115,233,970 (GRCm39) missense probably damaging 1.00
IGL02963:Sppl3 APN 5 115,199,662 (GRCm39) missense probably damaging 1.00
R0119:Sppl3 UTSW 5 115,227,053 (GRCm39) unclassified probably benign
R0299:Sppl3 UTSW 5 115,227,053 (GRCm39) unclassified probably benign
R0827:Sppl3 UTSW 5 115,220,392 (GRCm39) nonsense probably null
R1141:Sppl3 UTSW 5 115,226,352 (GRCm39) frame shift probably null
R1321:Sppl3 UTSW 5 115,226,352 (GRCm39) frame shift probably null
R1322:Sppl3 UTSW 5 115,226,352 (GRCm39) frame shift probably null
R1451:Sppl3 UTSW 5 115,226,424 (GRCm39) missense probably damaging 1.00
R3110:Sppl3 UTSW 5 115,212,923 (GRCm39) missense possibly damaging 0.78
R3112:Sppl3 UTSW 5 115,212,923 (GRCm39) missense possibly damaging 0.78
R4701:Sppl3 UTSW 5 115,241,372 (GRCm39) splice site probably null
R4808:Sppl3 UTSW 5 115,221,485 (GRCm39) splice site probably benign
R4931:Sppl3 UTSW 5 115,220,373 (GRCm39) missense probably damaging 1.00
R6513:Sppl3 UTSW 5 115,233,995 (GRCm39) missense probably damaging 1.00
R6993:Sppl3 UTSW 5 115,220,349 (GRCm39) missense probably damaging 0.99
R7326:Sppl3 UTSW 5 115,220,394 (GRCm39) missense probably damaging 0.99
R7384:Sppl3 UTSW 5 115,199,700 (GRCm39) critical splice donor site probably null
R9012:Sppl3 UTSW 5 115,226,987 (GRCm39) missense probably benign 0.38
R9257:Sppl3 UTSW 5 115,221,532 (GRCm39) missense probably benign 0.41
R9258:Sppl3 UTSW 5 115,233,922 (GRCm39) missense probably damaging 1.00
R9306:Sppl3 UTSW 5 115,212,922 (GRCm39) missense probably benign
Posted On 2015-04-16