Incidental Mutation 'R5781:Smpdl3a'
ID447742
Institutional Source Beutler Lab
Gene Symbol Smpdl3a
Ensembl Gene ENSMUSG00000019872
Gene Namesphingomyelin phosphodiesterase, acid-like 3A
SynonymsASM3A, 0610010C24Rik, ASML3A
MMRRC Submission 043378-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5781 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location57794335-57811830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57807938 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 264 (I264K)
Ref Sequence ENSEMBL: ENSMUSP00000020022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020022]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020022
AA Change: I264K

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: I264K

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,101,987 L1617P probably damaging Het
Abhd16b T C 2: 181,494,154 V283A probably damaging Het
Adamts19 G T 18: 58,837,968 R208L possibly damaging Het
Adamts4 T C 1: 171,251,015 I56T possibly damaging Het
Alpk1 A C 3: 127,680,035 V773G possibly damaging Het
Arhgap10 G T 8: 77,450,707 Q100K possibly damaging Het
Arhgef18 T A 8: 3,439,439 probably null Het
Asb15 A T 6: 24,564,378 H277L probably benign Het
Ascc3 T A 10: 50,637,978 V291E probably damaging Het
Cnot6l A C 5: 96,086,165 V329G probably benign Het
Col14a1 A G 15: 55,423,512 T910A unknown Het
Dhdds G A 4: 133,996,830 L58F probably damaging Het
Dsc2 A G 18: 20,032,510 I846T probably benign Het
Evc A T 5: 37,326,570 S129T probably damaging Het
Fetub C T 16: 22,932,331 R143C probably damaging Het
Fyco1 A G 9: 123,794,833 V1377A probably damaging Het
Haus6 C T 4: 86,601,263 A203T possibly damaging Het
Hkdc1 T G 10: 62,417,933 D23A probably damaging Het
Hpdl C T 4: 116,820,578 V229M probably damaging Het
Hspa12a T C 19: 58,822,086 Y175C probably damaging Het
Hyal1 C T 9: 107,577,667 P59S probably damaging Het
Itpr1 G A 6: 108,510,738 C2374Y probably benign Het
Kmt2a A T 9: 44,847,842 Y114* probably null Het
Mc2r A T 18: 68,407,395 Y276N possibly damaging Het
Mc2r A T 18: 68,407,397 I275K probably damaging Het
Mlycd A G 8: 119,410,280 Y413C probably damaging Het
Mocs2 T G 13: 114,820,919 S86R probably damaging Het
Msx2 C A 13: 53,472,608 A35S probably benign Het
Olfr770 A T 10: 129,133,147 L207H probably damaging Het
Pla2g4f C A 2: 120,305,023 S390I probably damaging Het
Plcl1 C T 1: 55,695,989 A163V possibly damaging Het
Pnn T C 12: 59,071,819 V396A probably damaging Het
Rbmxl1 G A 8: 78,505,641 probably benign Het
Recql G T 6: 142,365,618 probably null Het
Rev3l T A 10: 39,823,093 N1195K probably benign Het
Rfwd3 G A 8: 111,273,084 T754M probably benign Het
Sctr A G 1: 120,031,620 T98A probably damaging Het
Sdk1 T A 5: 141,936,048 D6E probably benign Het
Spag6 A G 2: 18,731,993 I154V probably benign Het
Tbc1d12 A C 19: 38,882,683 T297P probably benign Het
Tgfb1 A G 7: 25,696,960 D226G probably benign Het
Ubr3 G T 2: 70,016,244 probably null Het
Ubr4 T C 4: 139,468,096 Y1210H probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Vmn2r120 T G 17: 57,524,938 T284P probably benign Het
Vps13b G T 15: 35,794,035 A2286S probably damaging Het
Zcchc14 A T 8: 121,604,593 probably benign Het
Zfr2 T A 10: 81,243,713 V362E probably benign Het
Other mutations in Smpdl3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Smpdl3a APN 10 57807946 missense probably benign 0.01
IGL01530:Smpdl3a APN 10 57807893 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GACCCAAATGTCAAGACAGTG -3'
(R):5'- TGGAAGAACCAAGATTTGTTGACC -3'

Sequencing Primer
(F):5'- CAGTGACCTTGATAGTTACATAGGC -3'
(R):5'- GCCAGCCTGGTCTATACAATAGTG -3'
Posted On2016-12-15