Incidental Mutation 'R4808:Sppl3'
ID430149
Institutional Source Beutler Lab
Gene Symbol Sppl3
Ensembl Gene ENSMUSG00000029550
Gene Namesignal peptide peptidase 3
SynonymsUsmg3, 4833416I09Rik
MMRRC Submission 042427-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.659) question?
Stock #R4808 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location115011137-115098790 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 115083426 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031530] [ENSMUST00000128590]
Predicted Effect silent
Transcript: ENSMUST00000031530
SMART Domains Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (71/72)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,849,672 F309S unknown Het
Abi3bp A G 16: 56,594,516 D347G probably damaging Het
Adora2a A G 10: 75,333,446 N248S probably damaging Het
Agap3 T C 5: 24,501,245 F836L probably benign Het
Arap2 G A 5: 62,730,641 T454M probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Atm A G 9: 53,445,495 S2819P probably damaging Het
Atp8b1 A G 18: 64,561,711 F500S probably benign Het
Catsper1 G A 19: 5,344,136 D682N possibly damaging Het
Ccdc105 A T 10: 78,752,864 D37E probably benign Het
Chordc1 A G 9: 18,292,413 Y6C probably damaging Het
Cped1 A G 6: 22,088,757 K273R probably damaging Het
Crat T C 2: 30,410,021 I116V probably benign Het
Cyp26a1 A G 19: 37,701,125 H423R probably benign Het
Cyp4f40 A G 17: 32,674,275 E360G probably benign Het
D430041D05Rik A C 2: 104,201,110 probably null Het
Eif3i A T 4: 129,592,064 F323I probably benign Het
Fam53a A G 5: 33,607,679 S228P probably damaging Het
Gm10305 C T 4: 99,273,244 noncoding transcript Het
Gm7347 C T 5: 26,054,997 R185H probably benign Het
Golga2 G T 2: 32,303,214 A441S probably benign Het
Gphn T A 12: 78,654,880 S608T probably benign Het
Gramd1b A T 9: 40,304,349 V620E possibly damaging Het
H2-M9 T C 17: 36,640,792 T264A probably damaging Het
Hist2h2bb T G 3: 96,270,013 S88A probably benign Het
Hjurp G C 1: 88,277,215 probably benign Het
Hsd3b6 G A 3: 98,806,285 H233Y probably damaging Het
Ighv6-7 T A 12: 114,455,721 R88* probably null Het
Jup C T 11: 100,378,192 R465H probably damaging Het
Kif16b A T 2: 142,857,358 Y101N probably damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Mapkap1 G A 2: 34,597,422 probably null Het
Myocos T C 1: 162,657,040 probably benign Het
Nav1 C T 1: 135,455,204 G1197S probably damaging Het
Oas1g T G 5: 120,879,322 K223T possibly damaging Het
Olfr293 A G 7: 86,663,938 D92G probably benign Het
Olfr577 T C 7: 102,973,911 H27R probably damaging Het
Oprd1 G A 4: 132,117,394 T101M probably damaging Het
Pcdha7 G A 18: 36,974,228 C102Y probably damaging Het
Pcx T A 19: 4,620,928 S1086T probably benign Het
Pde8a A G 7: 81,282,931 T114A probably benign Het
Pias4 A G 10: 81,155,840 probably null Het
Pkn3 G A 2: 30,090,081 G750E probably damaging Het
Pramel5 G A 4: 144,272,755 A254V probably benign Het
Ptprq A G 10: 107,718,507 L119P probably damaging Het
Rasgrf2 A T 13: 92,023,682 L395Q probably damaging Het
Rbm19 T C 5: 120,118,774 S51P probably damaging Het
Rfx5 A G 3: 94,958,280 T297A probably benign Het
Scaf1 T C 7: 45,008,639 E272G probably damaging Het
Slc24a2 G T 4: 87,032,238 Q396K probably benign Het
Slc39a14 T C 14: 70,315,801 I162V probably damaging Het
Snap25 A G 2: 136,770,102 D70G probably damaging Het
Spata31d1b C T 13: 59,715,721 P228S probably benign Het
Sspo A G 6: 48,451,161 D314G probably damaging Het
Steap1 G T 5: 5,738,829 probably benign Het
Suox T A 10: 128,671,889 D90V possibly damaging Het
Sycp2 T C 2: 178,393,961 probably benign Het
Tln2 G T 9: 67,331,733 T1087K probably benign Het
Uap1l1 A G 2: 25,362,085 S473P probably damaging Het
Xpo5 T A 17: 46,235,970 N882K probably benign Het
Zfp536 A T 7: 37,479,305 C228S probably damaging Het
Other mutations in Sppl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Sppl3 APN 5 115074876 missense probably benign
IGL02302:Sppl3 APN 5 115082331 missense probably benign 0.43
IGL02381:Sppl3 APN 5 115074910 splice site probably null
IGL02592:Sppl3 APN 5 115095911 missense probably damaging 1.00
IGL02963:Sppl3 APN 5 115061603 missense probably damaging 1.00
R0119:Sppl3 UTSW 5 115088994 unclassified probably benign
R0299:Sppl3 UTSW 5 115088994 unclassified probably benign
R0827:Sppl3 UTSW 5 115082333 nonsense probably null
R1141:Sppl3 UTSW 5 115088293 frame shift probably null
R1321:Sppl3 UTSW 5 115088293 frame shift probably null
R1322:Sppl3 UTSW 5 115088293 frame shift probably null
R1451:Sppl3 UTSW 5 115088365 missense probably damaging 1.00
R3110:Sppl3 UTSW 5 115074864 missense possibly damaging 0.78
R3112:Sppl3 UTSW 5 115074864 missense possibly damaging 0.78
R4701:Sppl3 UTSW 5 115103313 unclassified probably null
R4931:Sppl3 UTSW 5 115082314 missense probably damaging 1.00
R6513:Sppl3 UTSW 5 115095936 missense probably damaging 1.00
R6993:Sppl3 UTSW 5 115082290 missense probably damaging 0.99
R7326:Sppl3 UTSW 5 115082335 missense probably damaging 0.99
R7384:Sppl3 UTSW 5 115061641 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGAAAGACCTCTCCTGGGC -3'
(R):5'- TGCATTTCCTGTGCCACAG -3'

Sequencing Primer
(F):5'- GCTCAGTGCTACGTACGTATGTAC -3'
(R):5'- CACAGGAGGGAAGGGAGATTCTATC -3'
Posted On2016-09-07