Incidental Mutation 'IGL03181:Smpd4'
ID 412224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smpd4
Ensembl Gene ENSMUSG00000005899
Gene Name sphingomyelin phosphodiesterase 4
Synonyms 4122402O22Rik, neutral membrane (neutral sphingomyelinase-3)
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL03181
Quality Score
Status
Chromosome 16
Chromosomal Location 17437218-17462692 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 17443671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 72 (Q72*)
Ref Sequence ENSEMBL: ENSMUSP00000155910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006053] [ENSMUST00000090159] [ENSMUST00000163476] [ENSMUST00000163592] [ENSMUST00000163997] [ENSMUST00000165363] [ENSMUST00000167217] [ENSMUST00000168101] [ENSMUST00000169662] [ENSMUST00000170366] [ENSMUST00000170996] [ENSMUST00000170117] [ENSMUST00000170273] [ENSMUST00000172182] [ENSMUST00000171435] [ENSMUST00000231792] [ENSMUST00000231436] [ENSMUST00000231887] [ENSMUST00000231257] [ENSMUST00000231627] [ENSMUST00000232271] [ENSMUST00000232116] [ENSMUST00000231311] [ENSMUST00000232442] [ENSMUST00000232021] [ENSMUST00000231722] [ENSMUST00000232043]
AlphaFold Q6ZPR5
Predicted Effect probably null
Transcript: ENSMUST00000006053
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000006053
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 768 N/A PFAM
transmembrane domain 769 791 N/A INTRINSIC
transmembrane domain 798 815 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087486
Predicted Effect probably null
Transcript: ENSMUST00000090159
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000087620
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 288 7.4e-177 PFAM
Pfam:mit_SMPDase 287 752 9.4e-259 PFAM
transmembrane domain 753 775 N/A INTRINSIC
transmembrane domain 782 799 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163476
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000131867
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 289 6.2e-177 PFAM
Pfam:mit_SMPDase 285 739 9.8e-266 PFAM
transmembrane domain 740 762 N/A INTRINSIC
transmembrane domain 769 786 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163592
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000126998
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 110 2.6e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163997
SMART Domains Protein: ENSMUSP00000128595
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 43 2.1e-17 PFAM
Pfam:mit_SMPDase 42 68 2.5e-13 PFAM
Pfam:mit_SMPDase 65 518 4.9e-266 PFAM
transmembrane domain 519 541 N/A INTRINSIC
transmembrane domain 548 565 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165363
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000130720
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 289 6.2e-177 PFAM
Pfam:mit_SMPDase 285 738 4.1e-262 PFAM
transmembrane domain 739 761 N/A INTRINSIC
transmembrane domain 768 785 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000167217
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000130570
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 92 3.4e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168101
AA Change: Q43*
SMART Domains Protein: ENSMUSP00000129995
Gene: ENSMUSG00000005899
AA Change: Q43*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 125 6.8e-70 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169662
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000125819
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 82 1.8e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170366
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000130990
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 288 7.1e-177 PFAM
Pfam:mit_SMPDase 286 643 1.8e-214 PFAM
Pfam:mit_SMPDase 642 696 8.6e-18 PFAM
transmembrane domain 697 719 N/A INTRINSIC
transmembrane domain 726 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170401
Predicted Effect probably benign
Transcript: ENSMUST00000170996
SMART Domains Protein: ENSMUSP00000129074
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 26 444 4.4e-234 PFAM
transmembrane domain 445 467 N/A INTRINSIC
transmembrane domain 474 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170117
SMART Domains Protein: ENSMUSP00000132279
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 46 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170273
SMART Domains Protein: ENSMUSP00000129957
Gene: ENSMUSG00000005899

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 43 2.6e-17 PFAM
Pfam:mit_SMPDase 41 215 4.1e-103 PFAM
Pfam:mit_SMPDase 214 666 1.3e-265 PFAM
transmembrane domain 667 689 N/A INTRINSIC
transmembrane domain 696 713 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000172182
AA Change: Q72*
SMART Domains Protein: ENSMUSP00000126093
Gene: ENSMUSG00000005899
AA Change: Q72*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 106 1.4e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171435
AA Change: Q80*
SMART Domains Protein: ENSMUSP00000131560
Gene: ENSMUSG00000005899
AA Change: Q80*

DomainStartEndE-ValueType
Pfam:mit_SMPDase 8 129 4.4e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232417
Predicted Effect probably benign
Transcript: ENSMUST00000231792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232468
Predicted Effect probably null
Transcript: ENSMUST00000231436
AA Change: Q72*
Predicted Effect probably benign
Transcript: ENSMUST00000231887
Predicted Effect probably null
Transcript: ENSMUST00000231257
AA Change: Q43*
Predicted Effect probably benign
Transcript: ENSMUST00000231627
Predicted Effect probably benign
Transcript: ENSMUST00000232271
Predicted Effect probably null
Transcript: ENSMUST00000232116
AA Change: Q72*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231736
Predicted Effect probably null
Transcript: ENSMUST00000231311
AA Change: Q80*
Predicted Effect probably null
Transcript: ENSMUST00000232442
AA Change: Q72*
Predicted Effect probably benign
Transcript: ENSMUST00000232021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232578
Predicted Effect probably benign
Transcript: ENSMUST00000231722
Predicted Effect probably null
Transcript: ENSMUST00000232043
AA Change: Q72*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Smpd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Smpd4 APN 16 17,460,621 (GRCm39) missense probably benign 0.04
IGL01461:Smpd4 APN 16 17,439,370 (GRCm39) missense probably damaging 1.00
IGL02051:Smpd4 APN 16 17,444,382 (GRCm39) missense probably damaging 1.00
IGL02492:Smpd4 APN 16 17,457,215 (GRCm39) missense probably damaging 1.00
Victim UTSW 16 17,458,835 (GRCm39) missense probably damaging 1.00
weakling UTSW 16 17,456,350 (GRCm39) intron probably benign
G1citation:Smpd4 UTSW 16 17,458,097 (GRCm39) missense probably damaging 1.00
R0197:Smpd4 UTSW 16 17,459,461 (GRCm39) critical splice donor site probably null
R0549:Smpd4 UTSW 16 17,457,176 (GRCm39) missense probably benign 0.15
R0789:Smpd4 UTSW 16 17,443,690 (GRCm39) missense probably benign 0.14
R1077:Smpd4 UTSW 16 17,441,833 (GRCm39) missense probably damaging 1.00
R1120:Smpd4 UTSW 16 17,456,350 (GRCm39) intron probably benign
R1716:Smpd4 UTSW 16 17,460,365 (GRCm39) missense probably damaging 1.00
R1758:Smpd4 UTSW 16 17,458,744 (GRCm39) missense probably damaging 1.00
R1758:Smpd4 UTSW 16 17,443,872 (GRCm39) missense probably damaging 0.99
R1838:Smpd4 UTSW 16 17,460,166 (GRCm39) splice site probably null
R2115:Smpd4 UTSW 16 17,444,729 (GRCm39) missense probably benign 0.33
R2849:Smpd4 UTSW 16 17,460,076 (GRCm39) missense probably damaging 1.00
R4654:Smpd4 UTSW 16 17,459,992 (GRCm39) intron probably benign
R6157:Smpd4 UTSW 16 17,458,930 (GRCm39) splice site probably null
R6190:Smpd4 UTSW 16 17,449,877 (GRCm39) missense probably damaging 1.00
R6822:Smpd4 UTSW 16 17,458,097 (GRCm39) missense probably damaging 1.00
R7062:Smpd4 UTSW 16 17,458,835 (GRCm39) missense probably damaging 1.00
R7305:Smpd4 UTSW 16 17,459,647 (GRCm39) missense probably damaging 0.99
R7759:Smpd4 UTSW 16 17,456,497 (GRCm39) missense probably damaging 1.00
R7853:Smpd4 UTSW 16 17,460,605 (GRCm39) missense probably damaging 1.00
R8187:Smpd4 UTSW 16 17,446,999 (GRCm39) missense probably damaging 1.00
R8303:Smpd4 UTSW 16 17,457,195 (GRCm39) missense probably damaging 1.00
R8518:Smpd4 UTSW 16 17,458,884 (GRCm39) missense possibly damaging 0.89
R8735:Smpd4 UTSW 16 17,453,410 (GRCm39) missense possibly damaging 0.92
R9075:Smpd4 UTSW 16 17,457,849 (GRCm39) missense unknown
R9439:Smpd4 UTSW 16 17,459,451 (GRCm39) missense probably benign
Z1176:Smpd4 UTSW 16 17,437,450 (GRCm39) intron probably benign
Z1177:Smpd4 UTSW 16 17,439,305 (GRCm39) critical splice acceptor site probably benign
Posted On 2016-08-02