Incidental Mutation 'IGL01530:Smpdl3a'
ID89708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smpdl3a
Ensembl Gene ENSMUSG00000019872
Gene Namesphingomyelin phosphodiesterase, acid-like 3A
SynonymsASM3A, 0610010C24Rik, ASML3A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01530
Quality Score
Status
Chromosome10
Chromosomal Location57794335-57811830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57807893 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 249 (H249R)
Ref Sequence ENSEMBL: ENSMUSP00000020022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020022]
Predicted Effect probably damaging
Transcript: ENSMUST00000020022
AA Change: H249R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: H249R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Metallophos 35 294 1.7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125076
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,643,986 R1117W probably damaging Het
Acox2 T G 14: 8,246,363 Y476S probably damaging Het
Arl6ip5 G A 6: 97,210,824 D2N possibly damaging Het
C77080 G A 4: 129,222,796 probably null Het
Ces2h A G 8: 105,014,484 H36R probably benign Het
Cfap44 C A 16: 44,449,167 A1178E probably damaging Het
Clmn T A 12: 104,791,856 I134F probably damaging Het
Col6a5 A G 9: 105,915,186 probably benign Het
Csmd1 C T 8: 15,903,195 E3429K probably damaging Het
Csmd2 A G 4: 128,414,301 D1284G possibly damaging Het
Csmd3 C T 15: 47,838,437 G1750E possibly damaging Het
Csmd3 T G 15: 47,669,617 D2516A probably damaging Het
Depdc1a C T 3: 159,523,923 H631Y probably damaging Het
Fam129c A T 8: 71,603,917 probably benign Het
Fat2 A T 11: 55,283,387 S2167T probably benign Het
Flii G A 11: 60,720,182 R474* probably null Het
Hmcn2 A C 2: 31,354,264 D687A possibly damaging Het
Hrh4 A G 18: 13,015,947 probably benign Het
Hsd3b5 G A 3: 98,619,123 R336C probably damaging Het
Igkv5-39 T A 6: 69,900,475 E79V probably damaging Het
Iqgap3 G A 3: 88,112,303 probably null Het
Irak3 G A 10: 120,142,794 S492F probably benign Het
Kif14 T A 1: 136,478,419 probably benign Het
Kmt2c T C 5: 25,313,500 I2394V probably benign Het
Lama1 C T 17: 67,796,790 A2002V probably benign Het
Map3k19 T C 1: 127,822,104 E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 probably benign Het
Mpo G T 11: 87,801,191 M483I probably benign Het
Neu3 T C 7: 99,813,746 S257G probably benign Het
Nup214 A G 2: 32,033,721 T1421A probably benign Het
Pbx1 T C 1: 168,191,304 N324S probably benign Het
Pcbp2 T C 15: 102,484,166 S5P probably benign Het
Pds5b A G 5: 150,792,175 I511V probably benign Het
Pdzph1 C T 17: 58,922,715 D983N probably damaging Het
Phldb2 A C 16: 45,802,729 D651E probably damaging Het
Pkhd1 A G 1: 20,559,419 probably null Het
Plxnb1 A G 9: 109,110,405 D1406G probably benign Het
Rhebl1 T C 15: 98,879,486 D65G probably damaging Het
Sorbs1 T C 19: 40,376,647 T231A probably benign Het
Tmem232 G A 17: 65,256,548 Q617* probably null Het
Trim62 A G 4: 128,884,459 D97G probably benign Het
Tsc2 T C 17: 24,622,662 T328A possibly damaging Het
Ugt2b5 C T 5: 87,137,245 V278I probably benign Het
Usp4 T C 9: 108,362,900 probably null Het
Vdac3-ps1 C T 13: 18,031,506 noncoding transcript Het
Wwc2 T A 8: 47,863,939 R706S unknown Het
Xpot A C 10: 121,611,528 I114S probably damaging Het
Zfp777 T A 6: 48,043,984 S279C probably damaging Het
Other mutations in Smpdl3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Smpdl3a APN 10 57807946 missense probably benign 0.01
IGL01936:Smpdl3a APN 10 57802434 missense probably damaging 1.00
IGL02342:Smpdl3a APN 10 57809180 splice site probably benign
IGL02372:Smpdl3a APN 10 57807515 missense probably benign 0.05
IGL02827:Smpdl3a APN 10 57802496 missense probably damaging 1.00
R0462:Smpdl3a UTSW 10 57794731 missense probably benign 0.07
R0658:Smpdl3a UTSW 10 57811240 missense probably damaging 0.99
R1216:Smpdl3a UTSW 10 57802479 missense probably null 0.98
R1502:Smpdl3a UTSW 10 57809091 missense probably damaging 1.00
R1559:Smpdl3a UTSW 10 57807492 missense probably damaging 0.99
R1807:Smpdl3a UTSW 10 57801022 missense probably damaging 0.99
R2872:Smpdl3a UTSW 10 57802530 missense possibly damaging 0.51
R2872:Smpdl3a UTSW 10 57802530 missense possibly damaging 0.51
R2877:Smpdl3a UTSW 10 57809085 missense probably damaging 1.00
R4799:Smpdl3a UTSW 10 57808015 missense probably damaging 1.00
R4814:Smpdl3a UTSW 10 57811241 missense probably damaging 1.00
R4916:Smpdl3a UTSW 10 57801031 missense probably damaging 1.00
R5137:Smpdl3a UTSW 10 57801067 missense possibly damaging 0.93
R5778:Smpdl3a UTSW 10 57801001 missense probably damaging 0.98
R5781:Smpdl3a UTSW 10 57807938 missense possibly damaging 0.78
R5917:Smpdl3a UTSW 10 57805558 splice site probably null
R6044:Smpdl3a UTSW 10 57811262 missense possibly damaging 0.82
R6773:Smpdl3a UTSW 10 57802437 missense probably damaging 0.99
R6863:Smpdl3a UTSW 10 57808011 nonsense probably null
R7480:Smpdl3a UTSW 10 57802478 missense possibly damaging 0.87
Posted On2013-12-03