Incidental Mutation 'IGL02057:Smpdl3b'
ID185272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smpdl3b
Ensembl Gene ENSMUSG00000028885
Gene Namesphingomyelin phosphodiesterase, acid-like 3B
Synonyms1110054A24Rik, Asml3b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02057
Quality Score
Status
Chromosome4
Chromosomal Location132732966-132757252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132733713 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 351 (E351V)
Ref Sequence ENSEMBL: ENSMUSP00000030709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030709] [ENSMUST00000045550]
Predicted Effect probably benign
Transcript: ENSMUST00000030709
AA Change: E351V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030709
Gene: ENSMUSG00000028885
AA Change: E351V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Metallophos 21 281 1.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045550
SMART Domains Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752

DomainStartEndE-ValueType
Pfam:XK-related 14 345 2.3e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150104
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal but exhibit an enhanced inflammatory response in models of Toll-like receptor (TLR)-dependent peritonitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Eci2 A G 13: 34,990,776 L50P probably damaging Het
Erp44 A T 4: 48,236,964 H65Q probably benign Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Galm T C 17: 80,181,567 I214T probably benign Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
Gm10696 T A 3: 94,176,355 S50C probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rab37 T C 11: 115,160,717 S217P probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Sirt1 A G 10: 63,325,203 S357P probably damaging Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Smpdl3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03166:Smpdl3b APN 4 132741531 missense probably benign 0.00
R0321:Smpdl3b UTSW 4 132741444 missense probably damaging 0.99
R0450:Smpdl3b UTSW 4 132745138 missense probably damaging 1.00
R0510:Smpdl3b UTSW 4 132745138 missense probably damaging 1.00
R1462:Smpdl3b UTSW 4 132746614 missense probably damaging 1.00
R1462:Smpdl3b UTSW 4 132746614 missense probably damaging 1.00
R4725:Smpdl3b UTSW 4 132745178 missense probably damaging 0.97
R4844:Smpdl3b UTSW 4 132738058 missense probably damaging 1.00
R6290:Smpdl3b UTSW 4 132738275 missense possibly damaging 0.67
R6992:Smpdl3b UTSW 4 132745141 missense possibly damaging 0.94
Posted On2014-05-07