Incidental Mutation 'R9287:Smpd1'
ID 704008
Institutional Source Beutler Lab
Gene Symbol Smpd1
Ensembl Gene ENSMUSG00000037049
Gene Name sphingomyelin phosphodiesterase 1, acid lysosomal
Synonyms ASM, A-SMase, Zn-SMase, aSMase, acid sphingomyelinase
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R9287 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 105203567-105207596 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105204442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 107 (V107E)
Ref Sequence ENSEMBL: ENSMUSP00000042187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046983] [ENSMUST00000081165] [ENSMUST00000186814] [ENSMUST00000187057] [ENSMUST00000188001] [ENSMUST00000188368] [ENSMUST00000189072] [ENSMUST00000189265] [ENSMUST00000189378] [ENSMUST00000190369] [ENSMUST00000191011] [ENSMUST00000191601]
AlphaFold Q04519
Predicted Effect probably benign
Transcript: ENSMUST00000046983
AA Change: V107E

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042187
Gene: ENSMUSG00000037049
AA Change: V107E

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
SapB 85 163 1.05e-7 SMART
low complexity region 177 196 N/A INTRINSIC
Pfam:Metallophos 197 459 4.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081165
SMART Domains Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 6.23e-5 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 512 4.16e-38 SMART
PTB 538 667 1.76e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186814
Predicted Effect probably benign
Transcript: ENSMUST00000187057
SMART Domains Protein: ENSMUSP00000139899
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
WW 31 62 3.7e-7 SMART
low complexity region 64 76 N/A INTRINSIC
PTB 142 287 3.8e-41 SMART
PTB 313 442 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188001
Predicted Effect probably benign
Transcript: ENSMUST00000188368
SMART Domains Protein: ENSMUSP00000139788
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
WW 31 62 3.7e-7 SMART
low complexity region 64 76 N/A INTRINSIC
PTB 142 289 1.8e-40 SMART
PTB 315 444 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189072
SMART Domains Protein: ENSMUSP00000139575
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 8.1e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
PTB 106 253 1.8e-40 SMART
PTB 279 408 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189265
SMART Domains Protein: ENSMUSP00000140137
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:PID 1 34 2.3e-6 PFAM
PTB 63 192 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189378
SMART Domains Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 6.23e-5 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 510 6.86e-39 SMART
PTB 536 665 1.76e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190369
SMART Domains Protein: ENSMUSP00000140486
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 8.1e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
PTB 106 253 1.8e-40 SMART
PTB 279 408 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191011
SMART Domains Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 6.23e-5 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 510 6.86e-39 SMART
PTB 536 665 1.76e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191601
SMART Domains Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 3.7e-7 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 512 1.8e-40 SMART
PTB 538 667 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211614
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (109/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
PHENOTYPE: Nullizygous mutations cause tremors, ataxia, altered lipid homeostasis, increased foam cell number, Purkinje cell loss and premature death, and may lead to hepatosplenomegaly, hunched posture, reduced weight, abnormal apoptosis, sperm defects, dyspnea, and high susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T A 2: 32,465,178 (GRCm39) probably benign Het
Aadacl2 C A 3: 59,932,573 (GRCm39) H363N probably damaging Het
Ace3 T G 11: 105,888,246 (GRCm39) S319A probably damaging Het
Amer3 C T 1: 34,627,900 (GRCm39) P713L possibly damaging Het
Aoah T C 13: 21,186,879 (GRCm39) L453P probably damaging Het
Asz1 A T 6: 18,051,290 (GRCm39) L463Q possibly damaging Het
Bpifb6 T A 2: 153,746,535 (GRCm39) V143D probably damaging Het
Cad T A 5: 31,230,000 (GRCm39) M1499K possibly damaging Het
Casp9 T A 4: 141,534,471 (GRCm39) C294S probably benign Het
Ccdc7b T A 8: 129,890,321 (GRCm39) S65T probably benign Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cfap54 T C 10: 92,805,565 (GRCm39) Y1515C possibly damaging Het
Chrm5 A C 2: 112,309,610 (GRCm39) F502C probably damaging Het
Cnst A T 1: 179,407,108 (GRCm39) T52S possibly damaging Het
Cntn6 T C 6: 104,809,471 (GRCm39) I502T possibly damaging Het
Col7a1 G A 9: 108,787,457 (GRCm39) V617M unknown Het
Ctsb A G 14: 63,370,875 (GRCm39) D29G probably benign Het
Cyp3a44 T A 5: 145,725,202 (GRCm39) Q333L possibly damaging Het
Dnajc27 T C 12: 4,146,256 (GRCm39) V95A possibly damaging Het
Eea1 T A 10: 95,831,445 (GRCm39) Y179N probably damaging Het
Erbb2 T C 11: 98,326,107 (GRCm39) M961T probably damaging Het
Fat4 G A 3: 38,945,781 (GRCm39) G1558D probably damaging Het
Foxh1 T C 15: 76,553,126 (GRCm39) E196G probably damaging Het
Gcc2 T A 10: 58,105,217 (GRCm39) L151* probably null Het
Gcdh C T 8: 85,616,313 (GRCm39) G294D probably damaging Het
Gcnt3 A T 9: 69,941,693 (GRCm39) F292I probably damaging Het
Glod4 T C 11: 76,128,510 (GRCm39) S131G probably benign Het
Gpc2 G A 5: 138,272,586 (GRCm39) L576F unknown Het
Gphn G A 12: 78,609,646 (GRCm39) S330N possibly damaging Het
Heatr5a C T 12: 51,967,260 (GRCm39) C872Y probably damaging Het
Hephl1 G A 9: 14,995,775 (GRCm39) S449L probably benign Het
Hrh2 G T 13: 54,368,358 (GRCm39) M111I probably benign Het
Igfn1 A G 1: 135,925,544 (GRCm39) V70A probably benign Het
Il2 G A 3: 37,179,988 (GRCm39) T23I probably damaging Het
Irak4 A G 15: 94,460,917 (GRCm39) T382A possibly damaging Het
Itih2 A G 2: 10,128,297 (GRCm39) S135P possibly damaging Het
Kansl3 C T 1: 36,388,497 (GRCm39) D457N probably damaging Het
Kcns3 A G 12: 11,141,601 (GRCm39) I366T probably damaging Het
Kif26a C A 12: 112,145,719 (GRCm39) Y1743* probably null Het
Lama4 A T 10: 38,981,960 (GRCm39) I1730F probably damaging Het
Lax1 T C 1: 133,607,931 (GRCm39) N270S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp6 A G 6: 134,483,259 (GRCm39) V482A probably benign Het
Luzp2 A G 7: 54,914,108 (GRCm39) probably benign Het
Mc5r C A 18: 68,472,200 (GRCm39) D186E probably damaging Het
Mcph1 A T 8: 18,657,293 (GRCm39) probably null Het
Mgam A G 6: 40,705,905 (GRCm39) probably benign Het
Mmrn1 A C 6: 60,952,939 (GRCm39) T407P probably damaging Het
Mrpl1 T C 5: 96,386,806 (GRCm39) V265A probably benign Het
Mrpl15 C T 1: 4,846,856 (GRCm39) G240D probably damaging Het
Msx1 A T 5: 37,978,795 (GRCm39) M240K probably damaging Het
Mtf1 T C 4: 124,724,934 (GRCm39) L337P probably damaging Het
Muc5ac T A 7: 141,361,626 (GRCm39) C1646S probably damaging Het
Mvb12a C A 8: 71,999,638 (GRCm39) T219N probably damaging Het
Myo16 G A 8: 10,526,114 (GRCm39) V885M unknown Het
N4bp2 T A 5: 65,960,855 (GRCm39) S509T probably benign Het
Nckap1 A G 2: 80,383,750 (GRCm39) V144A possibly damaging Het
Nkx2-6 G T 14: 69,412,404 (GRCm39) G191C possibly damaging Het
Nmnat2 T C 1: 152,962,138 (GRCm39) I126T probably damaging Het
Nrp2 C T 1: 62,835,014 (GRCm39) R863W probably damaging Het
Nup188 C T 2: 30,226,726 (GRCm39) R1168C probably damaging Het
Oas3 T A 5: 120,892,754 (GRCm39) D1091V probably damaging Het
Optn T A 2: 5,036,126 (GRCm39) Q452L probably damaging Het
Or8b47 C T 9: 38,435,082 (GRCm39) T18I probably damaging Het
Pcca G A 14: 122,854,178 (GRCm39) V157I probably benign Het
Pcdha9 A G 18: 37,132,281 (GRCm39) D450G probably benign Het
Pcnx1 T A 12: 82,042,323 (GRCm39) S38T probably benign Het
Phrf1 C G 7: 140,840,055 (GRCm39) D1083E probably benign Het
Plaat5 T A 19: 7,596,691 (GRCm39) Y159* probably null Het
Plcb4 G A 2: 135,829,817 (GRCm39) A947T probably benign Het
Ppp1r3g G A 13: 36,152,834 (GRCm39) D85N possibly damaging Het
Pramel34 G A 5: 93,785,969 (GRCm39) H104Y possibly damaging Het
Prom2 A C 2: 127,380,185 (GRCm39) V349G probably damaging Het
Prrc2c C T 1: 162,541,843 (GRCm39) S382N probably benign Het
Rai14 A T 15: 10,592,204 (GRCm39) N230K probably benign Het
Rexo5 A T 7: 119,402,025 (GRCm39) K142I probably damaging Het
Rgs22 T C 15: 36,098,409 (GRCm39) H484R probably damaging Het
Rims2 C T 15: 39,543,086 (GRCm39) A1440V probably damaging Het
Serpinb1a T C 13: 33,026,946 (GRCm39) E332G probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc26a7 C T 4: 14,516,165 (GRCm39) G555S possibly damaging Het
Slc4a2 A T 5: 24,639,123 (GRCm39) D386V probably damaging Het
Slc6a17 C T 3: 107,384,551 (GRCm39) V350M probably damaging Het
Smc2 A G 4: 52,449,361 (GRCm39) Y174C probably damaging Het
Smoc2 A G 17: 14,619,686 (GRCm39) Y355C probably damaging Het
Snapc1 T C 12: 74,018,773 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,722,426 (GRCm39) D918G possibly damaging Het
Steap4 T G 5: 8,026,683 (GRCm39) F215L probably benign Het
Tbc1d1 T A 5: 64,435,364 (GRCm39) S501T probably damaging Het
Tec A G 5: 72,926,117 (GRCm39) Y312H probably damaging Het
Ticrr C A 7: 79,343,516 (GRCm39) T1127K possibly damaging Het
Tlk2 A G 11: 105,147,722 (GRCm39) D438G probably benign Het
Tln2 C A 9: 67,277,980 (GRCm39) V343L probably benign Het
Tmem156 T A 5: 65,231,148 (GRCm39) I241F probably damaging Het
Tmtc1 G T 6: 148,186,390 (GRCm39) N559K probably benign Het
Trbv4 A T 6: 41,036,696 (GRCm39) I74F probably benign Het
Trmt1l C T 1: 151,328,899 (GRCm39) P524S probably damaging Het
Trpa1 A T 1: 14,956,040 (GRCm39) C776* probably null Het
Ttc41 T A 10: 86,599,830 (GRCm39) S1043R probably benign Het
Ttn A G 2: 76,576,646 (GRCm39) L24749S probably damaging Het
Ube2o C T 11: 116,471,942 (GRCm39) G100R probably damaging Het
Unc5b T C 10: 60,609,532 (GRCm39) E588G possibly damaging Het
Usp43 G T 11: 67,770,922 (GRCm39) Q571K probably damaging Het
Vmn1r127 G A 7: 21,052,927 (GRCm39) P287L possibly damaging Het
Wasf3 T A 5: 146,397,857 (GRCm39) M208K possibly damaging Het
Xab2 A G 8: 3,663,000 (GRCm39) F527S possibly damaging Het
Zfp644 T G 5: 106,785,774 (GRCm39) N258H possibly damaging Het
Zfp947 A C 17: 22,364,594 (GRCm39) F360C probably damaging Het
Other mutations in Smpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Smpd1 APN 7 105,205,848 (GRCm39) missense probably damaging 0.99
IGL01147:Smpd1 APN 7 105,204,943 (GRCm39) missense probably damaging 1.00
IGL01526:Smpd1 APN 7 105,203,982 (GRCm39) missense probably benign 0.01
IGL01541:Smpd1 APN 7 105,205,033 (GRCm39) missense possibly damaging 0.48
IGL01619:Smpd1 APN 7 105,204,549 (GRCm39) missense possibly damaging 0.89
IGL01924:Smpd1 APN 7 105,204,655 (GRCm39) missense probably benign 0.01
IGL03004:Smpd1 APN 7 105,205,881 (GRCm39) missense possibly damaging 0.82
R0782:Smpd1 UTSW 7 105,204,550 (GRCm39) missense possibly damaging 0.80
R1445:Smpd1 UTSW 7 105,205,881 (GRCm39) missense possibly damaging 0.82
R1489:Smpd1 UTSW 7 105,205,761 (GRCm39) splice site probably null
R3683:Smpd1 UTSW 7 105,204,609 (GRCm39) missense probably damaging 1.00
R3685:Smpd1 UTSW 7 105,204,609 (GRCm39) missense probably damaging 1.00
R3977:Smpd1 UTSW 7 105,205,108 (GRCm39) missense probably benign 0.29
R4850:Smpd1 UTSW 7 105,205,192 (GRCm39) missense probably benign
R5084:Smpd1 UTSW 7 105,206,185 (GRCm39) missense probably damaging 1.00
R6316:Smpd1 UTSW 7 105,204,709 (GRCm39) missense probably benign 0.19
R6429:Smpd1 UTSW 7 105,206,135 (GRCm39) missense probably damaging 1.00
R6672:Smpd1 UTSW 7 105,204,480 (GRCm39) missense probably benign
R7156:Smpd1 UTSW 7 105,203,693 (GRCm39) unclassified probably benign
R7883:Smpd1 UTSW 7 105,206,192 (GRCm39) missense probably damaging 1.00
R8261:Smpd1 UTSW 7 105,204,520 (GRCm39) missense probably benign 0.01
R9406:Smpd1 UTSW 7 105,203,750 (GRCm39) missense possibly damaging 0.62
R9461:Smpd1 UTSW 7 105,204,789 (GRCm39) missense probably damaging 1.00
R9496:Smpd1 UTSW 7 105,205,202 (GRCm39) critical splice donor site probably null
X0021:Smpd1 UTSW 7 105,206,852 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCTGAGCTAGAGTAGGTAGC -3'
(R):5'- CCAAGTCGAAAAGATGTCCCAG -3'

Sequencing Primer
(F):5'- TAGAGGCCTGGTGCTGAAC -3'
(R):5'- GTCGAAAAGATGTCCCAGTGTCC -3'
Posted On 2022-03-25