Incidental Mutation 'IGL02003:Nsmaf'
ID 182165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsmaf
Ensembl Gene ENSMUSG00000028245
Gene Name neutral sphingomyelinase (N-SMase) activation associated factor
Synonyms Fan, factor associated with N-SMase activation
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02003
Quality Score
Status
Chromosome 4
Chromosomal Location 6396207-6454271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6418522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 428 (I428V)
Ref Sequence ENSEMBL: ENSMUSP00000029910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029910]
AlphaFold O35242
Predicted Effect probably benign
Transcript: ENSMUST00000029910
AA Change: I428V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: I428V

DomainStartEndE-ValueType
low complexity region 23 28 N/A INTRINSIC
GRAM 176 247 2.22e-11 SMART
Beach 302 575 6.28e-190 SMART
WD40 622 661 4.55e-3 SMART
WD40 664 703 2.97e0 SMART
WD40 706 743 1.47e-6 SMART
WD40 756 794 1.7e-2 SMART
WD40 797 836 1.02e-5 SMART
WD40 839 875 9.55e0 SMART
WD40 878 917 1.5e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156715
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,736,392 (GRCm39) noncoding transcript Het
Adam1b G A 5: 121,639,354 (GRCm39) L564F probably damaging Het
Alms1 C T 6: 85,599,205 (GRCm39) P1344S possibly damaging Het
Cnnm2 G T 19: 46,856,998 (GRCm39) G699W probably damaging Het
Crybg2 A G 4: 133,799,767 (GRCm39) K309R probably benign Het
Csnk2a1 C T 2: 152,118,890 (GRCm39) R333* probably null Het
Eif3m C T 2: 104,843,188 (GRCm39) probably benign Het
Fgfr2 T C 7: 129,820,802 (GRCm39) D244G probably damaging Het
H2-Q10 A G 17: 35,781,338 (GRCm39) I47V probably benign Het
Hmcn2 C T 2: 31,318,994 (GRCm39) T3898I possibly damaging Het
Isyna1 G A 8: 71,049,407 (GRCm39) V440M possibly damaging Het
Itpr3 A G 17: 27,340,449 (GRCm39) K2654E probably damaging Het
Lrrd1 C T 5: 3,899,857 (GRCm39) T54I probably damaging Het
Lrrk2 G A 15: 91,615,694 (GRCm39) V843M probably damaging Het
Morc2b A T 17: 33,357,298 (GRCm39) V158D probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Mylk3 T C 8: 86,085,727 (GRCm39) D136G probably benign Het
Nos1 T C 5: 118,043,530 (GRCm39) S602P probably damaging Het
Nup93 T G 8: 95,028,737 (GRCm39) Y323* probably null Het
Or5ac21 G A 16: 59,123,996 (GRCm39) G161D probably damaging Het
Or7g21 A T 9: 19,032,361 (GRCm39) M34L probably benign Het
Or8b50 C T 9: 38,518,136 (GRCm39) A125V probably damaging Het
Ppm1m C A 9: 106,076,356 (GRCm39) G13W probably damaging Het
Prok1 T G 3: 107,142,979 (GRCm39) H75P probably damaging Het
Ptprb A T 10: 116,203,410 (GRCm39) I1774F probably damaging Het
Rasl10b A T 11: 83,308,679 (GRCm39) E73V probably damaging Het
Rhbdl3 A G 11: 80,228,342 (GRCm39) T271A possibly damaging Het
Serpina3a A G 12: 104,082,259 (GRCm39) M11V probably benign Het
Setdb2 T C 14: 59,650,939 (GRCm39) E464G probably damaging Het
Slc8a1 A G 17: 81,735,625 (GRCm39) I749T possibly damaging Het
Slco6d1 T A 1: 98,408,493 (GRCm39) I463N probably damaging Het
Sncb A T 13: 54,910,743 (GRCm39) V51E probably damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tet1 A G 10: 62,652,179 (GRCm39) V1613A possibly damaging Het
Vmn2r91 T A 17: 18,327,921 (GRCm39) I505K probably benign Het
Zfp110 A T 7: 12,583,832 (GRCm39) K827* probably null Het
Zfp438 A T 18: 5,214,503 (GRCm39) C152S probably benign Het
Other mutations in Nsmaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Nsmaf APN 4 6,417,163 (GRCm39) critical splice donor site probably null
IGL00778:Nsmaf APN 4 6,435,056 (GRCm39) critical splice donor site probably null
IGL01775:Nsmaf APN 4 6,396,791 (GRCm39) missense possibly damaging 0.79
IGL02039:Nsmaf APN 4 6,424,995 (GRCm39) splice site probably benign
IGL02085:Nsmaf APN 4 6,398,551 (GRCm39) missense probably benign 0.21
IGL02252:Nsmaf APN 4 6,398,378 (GRCm39) missense probably benign 0.00
IGL02655:Nsmaf APN 4 6,424,933 (GRCm39) missense possibly damaging 0.94
R0023:Nsmaf UTSW 4 6,408,680 (GRCm39) missense probably damaging 0.96
R0454:Nsmaf UTSW 4 6,424,874 (GRCm39) splice site probably null
R0538:Nsmaf UTSW 4 6,419,930 (GRCm39) splice site probably null
R0605:Nsmaf UTSW 4 6,418,470 (GRCm39) critical splice donor site probably null
R1033:Nsmaf UTSW 4 6,438,054 (GRCm39) missense probably damaging 1.00
R1472:Nsmaf UTSW 4 6,423,448 (GRCm39) nonsense probably null
R1519:Nsmaf UTSW 4 6,438,062 (GRCm39) missense probably benign 0.06
R1641:Nsmaf UTSW 4 6,409,884 (GRCm39) missense probably benign 0.01
R1668:Nsmaf UTSW 4 6,398,880 (GRCm39) missense probably damaging 0.98
R2212:Nsmaf UTSW 4 6,396,732 (GRCm39) missense probably damaging 0.99
R2351:Nsmaf UTSW 4 6,437,921 (GRCm39) missense probably damaging 1.00
R3862:Nsmaf UTSW 4 6,435,064 (GRCm39) missense probably benign 0.00
R4112:Nsmaf UTSW 4 6,417,188 (GRCm39) nonsense probably null
R4644:Nsmaf UTSW 4 6,419,940 (GRCm39) splice site probably benign
R4807:Nsmaf UTSW 4 6,398,542 (GRCm39) splice site probably null
R4960:Nsmaf UTSW 4 6,423,342 (GRCm39) missense probably damaging 1.00
R5556:Nsmaf UTSW 4 6,398,621 (GRCm39) missense probably benign 0.00
R5936:Nsmaf UTSW 4 6,421,017 (GRCm39) intron probably benign
R7288:Nsmaf UTSW 4 6,416,641 (GRCm39) missense probably benign
R7295:Nsmaf UTSW 4 6,438,083 (GRCm39) missense probably benign 0.00
R7378:Nsmaf UTSW 4 6,416,586 (GRCm39) missense probably benign
R7615:Nsmaf UTSW 4 6,408,563 (GRCm39) missense probably damaging 1.00
R7842:Nsmaf UTSW 4 6,435,109 (GRCm39) critical splice acceptor site probably null
R7993:Nsmaf UTSW 4 6,398,647 (GRCm39) missense probably benign 0.15
R8737:Nsmaf UTSW 4 6,396,748 (GRCm39) missense probably benign 0.15
R8856:Nsmaf UTSW 4 6,433,320 (GRCm39) nonsense probably null
R8905:Nsmaf UTSW 4 6,424,951 (GRCm39) missense probably benign 0.07
R8963:Nsmaf UTSW 4 6,428,471 (GRCm39) missense probably damaging 0.98
R9019:Nsmaf UTSW 4 6,418,523 (GRCm39) missense probably damaging 1.00
R9097:Nsmaf UTSW 4 6,416,543 (GRCm39) frame shift probably null
R9099:Nsmaf UTSW 4 6,416,543 (GRCm39) frame shift probably null
R9288:Nsmaf UTSW 4 6,414,976 (GRCm39) missense probably benign 0.01
R9328:Nsmaf UTSW 4 6,426,412 (GRCm39) missense probably damaging 1.00
R9378:Nsmaf UTSW 4 6,440,940 (GRCm39) missense probably benign 0.00
R9481:Nsmaf UTSW 4 6,414,976 (GRCm39) missense probably benign 0.01
R9556:Nsmaf UTSW 4 6,408,637 (GRCm39) missense probably benign 0.08
R9745:Nsmaf UTSW 4 6,416,662 (GRCm39) missense possibly damaging 0.49
X0021:Nsmaf UTSW 4 6,398,543 (GRCm39) critical splice donor site probably null
X0063:Nsmaf UTSW 4 6,414,962 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07