Incidental Mutation 'IGL02592:Sppl3'
ID299757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sppl3
Ensembl Gene ENSMUSG00000029550
Gene Namesignal peptide peptidase 3
SynonymsUsmg3, 4833416I09Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.650) question?
Stock #IGL02592
Quality Score
Status
Chromosome5
Chromosomal Location115011137-115098790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 115095911 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 347 (V347M)
Ref Sequence ENSEMBL: ENSMUSP00000031530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031530] [ENSMUST00000100848]
Predicted Effect probably damaging
Transcript: ENSMUST00000031530
AA Change: V347M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: V347M

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PSN 64 361 1.96e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128678
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps G A 14: 12,473,465 R899C probably damaging Het
Cass4 T C 2: 172,416,328 L82P probably benign Het
Cd53 C A 3: 106,763,285 C144F probably damaging Het
Fancc G A 13: 63,360,197 R175W probably damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gpr149 T C 3: 62,603,810 D256G possibly damaging Het
Kdm5b T A 1: 134,624,853 M1189K probably damaging Het
Lvrn T A 18: 46,850,591 C134S probably damaging Het
Mroh8 A T 2: 157,216,969 Y926N probably damaging Het
Nfxl1 A G 5: 72,514,229 S896P probably benign Het
Orc4 A T 2: 48,933,078 probably null Het
Pcsk6 T A 7: 65,969,028 H447Q probably damaging Het
Rfx6 C A 10: 51,716,023 Q121K probably damaging Het
Rnase6 T C 14: 51,130,525 Y125H probably benign Het
Sbno1 A T 5: 124,400,809 Y494N probably damaging Het
Tlr12 G A 4: 128,617,686 T257M probably benign Het
Tmem132e A T 11: 82,434,636 D154V probably damaging Het
Zfp345 A G 2: 150,473,309 Y103H probably benign Het
Zfp947 T A 17: 22,146,252 Q147L possibly 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
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
R4808:Sppl3 UTSW 5 115083426 splice site probably benign
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
Posted On2015-04-16