Incidental Mutation 'R8737:Nsmaf'
ID 663077
Institutional Source Beutler Lab
Gene Symbol Nsmaf
Ensembl Gene ENSMUSG00000028245
Gene Name neutral sphingomyelinase (N-SMase) activation associated factor
Synonyms Fan, factor associated with N-SMase activation
MMRRC Submission 068584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8737 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 6396207-6454271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6396748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 913 (I913T)
Ref Sequence ENSEMBL: ENSMUSP00000029910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029910] [ENSMUST00000029912] [ENSMUST00000103008] [ENSMUST00000108374] [ENSMUST00000153861] [ENSMUST00000175769]
AlphaFold O35242
Predicted Effect probably benign
Transcript: ENSMUST00000029910
AA Change: I913T

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: I913T

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 probably benign
Transcript: ENSMUST00000029912
SMART Domains Protein: ENSMUSP00000029912
Gene: ENSMUSG00000028249

DomainStartEndE-ValueType
PDZ 124 195 7.09e-15 SMART
PDZ 208 274 6.04e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103008
SMART Domains Protein: ENSMUSP00000100073
Gene: ENSMUSG00000028249

DomainStartEndE-ValueType
PDZ 123 194 7.09e-15 SMART
PDZ 207 273 6.04e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108374
SMART Domains Protein: ENSMUSP00000104011
Gene: ENSMUSG00000028249

DomainStartEndE-ValueType
PDZ 124 195 2.84e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153861
SMART Domains Protein: ENSMUSP00000119838
Gene: ENSMUSG00000028249

DomainStartEndE-ValueType
PDZ 123 194 7.09e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175769
SMART Domains Protein: ENSMUSP00000135777
Gene: ENSMUSG00000028249

DomainStartEndE-ValueType
PDZ 124 195 7.09e-15 SMART
Blast:PDZ 208 249 1e-21 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T A 1: 38,308,810 (GRCm39) D375V probably damaging Het
Agfg1 C G 1: 82,871,243 (GRCm39) P492A probably benign Het
Asb13 T C 13: 3,692,089 (GRCm39) V23A probably damaging Het
Atxn1l A T 8: 110,460,230 (GRCm39) C11S probably damaging Het
Bbs9 T G 9: 22,590,244 (GRCm39) S661A probably benign Het
Btrc T C 19: 45,496,198 (GRCm39) V211A probably damaging Het
Camk1g T C 1: 193,030,794 (GRCm39) probably null Het
Capn11 A T 17: 45,943,801 (GRCm39) L578I probably benign Het
Cd82 A T 2: 93,252,239 (GRCm39) I124N probably damaging Het
Cdkl4 G T 17: 80,858,258 (GRCm39) H120Q probably benign Het
Cftr T C 6: 18,319,728 (GRCm39) V1393A probably damaging Het
Col14a1 A T 15: 55,318,706 (GRCm39) R1402* probably null Het
Col6a3 T G 1: 90,727,747 (GRCm39) Y1960S probably benign Het
Col9a1 A T 1: 24,224,127 (GRCm39) Y103F unknown Het
Cux1 A G 5: 136,311,796 (GRCm39) V1180A probably damaging Het
Cyp17a1 A T 19: 46,658,166 (GRCm39) C249S probably benign Het
Derl1 A T 15: 57,755,568 (GRCm39) W42R probably benign Het
Dhx36 C A 3: 62,386,747 (GRCm39) M668I probably benign Het
Dnah6 T C 6: 73,044,428 (GRCm39) K3228E possibly damaging Het
Dst C T 1: 34,267,750 (GRCm39) A3050V probably benign Het
Efr3b A G 12: 4,049,594 (GRCm39) Y70H probably damaging Het
Epb42 T A 2: 120,856,324 (GRCm39) T407S possibly damaging Het
Fads2b T A 2: 85,324,387 (GRCm39) probably benign Het
Fap T A 2: 62,342,777 (GRCm39) I608L probably benign Het
Fblim1 A G 4: 141,310,387 (GRCm39) Y292H probably benign Het
Fmod A G 1: 133,968,043 (GRCm39) I28V probably benign Het
Gad2 T A 2: 22,524,985 (GRCm39) Y256* probably null Het
Gapdh G A 6: 125,139,017 (GRCm39) A353V probably benign Het
Gm5460 T G 14: 33,739,149 (GRCm39) W44G unknown Het
Ino80e A T 7: 126,460,974 (GRCm39) V91D probably benign Het
Iqgap2 G A 13: 95,802,258 (GRCm39) P896S probably damaging Het
Kif26b T A 1: 178,692,430 (GRCm39) I457N probably damaging Het
Klc2 T A 19: 5,168,477 (GRCm39) probably benign Het
Ldlrap1 C A 4: 134,495,147 (GRCm39) W22L probably benign Het
Matn3 A G 12: 9,017,665 (GRCm39) D439G possibly damaging Het
Met T C 6: 17,540,510 (GRCm39) L812P probably benign Het
Mki67 A T 7: 135,315,504 (GRCm39) I90N probably damaging Het
Mptx2 A C 1: 173,105,256 (GRCm39) S12A probably benign Het
Mrgpra9 G T 7: 46,885,624 (GRCm39) N14K probably benign Het
Nbeal2 G A 9: 110,456,949 (GRCm39) R2350C probably damaging Het
Nuggc G T 14: 65,882,535 (GRCm39) C760F probably benign Het
Or10a3m T A 7: 108,312,964 (GRCm39) F135I probably damaging Het
Or1j13 T A 2: 36,369,629 (GRCm39) N171I probably benign Het
Or2y1f T A 11: 49,184,965 (GRCm39) F272L probably damaging Het
Or4c110 C A 2: 88,832,351 (GRCm39) E94* probably null Het
Or51b6 A G 7: 103,555,913 (GRCm39) N86S Het
Pdgfrb C T 18: 61,214,073 (GRCm39) P953S probably damaging Het
Pemt T G 11: 59,874,285 (GRCm39) I102L probably benign Het
Pla2g4c G T 7: 13,069,154 (GRCm39) M109I probably benign Het
Pla2g4d T A 2: 120,100,466 (GRCm39) Y622F probably damaging Het
Pmpca T A 2: 26,283,531 (GRCm39) V400D probably damaging Het
Pnpt1 G C 11: 29,104,815 (GRCm39) probably null Het
Pramel29 A C 4: 143,935,192 (GRCm39) L183R probably damaging Het
Prrc1 T A 18: 57,496,408 (GRCm39) S120T possibly damaging Het
Prrx2 T G 2: 30,768,578 (GRCm39) V135G probably damaging Het
Qrfprl A G 6: 65,433,260 (GRCm39) K360R probably benign Het
Recql4 T C 15: 76,593,054 (GRCm39) N352S probably benign Het
Sftpa1 T C 14: 40,856,044 (GRCm39) S130P probably damaging Het
Slc35e2 T C 4: 155,695,042 (GRCm39) L136P probably benign Het
Tarbp2 T A 15: 102,430,202 (GRCm39) S155T probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tmem116 A T 5: 121,620,433 (GRCm39) Y146F Het
Ttc17 C T 2: 94,206,374 (GRCm39) probably null Het
Vmn2r114 G A 17: 23,529,142 (GRCm39) T320I probably benign Het
Vmn2r69 A T 7: 85,055,783 (GRCm39) V785D probably damaging Het
Vmn2r89 T A 14: 51,693,722 (GRCm39) N357K probably damaging Het
Zfp811 A T 17: 33,017,197 (GRCm39) L281Q possibly damaging 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
IGL02003:Nsmaf APN 4 6,418,522 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- AATGAAGTCACCATGATTTAGGAAG -3'
(R):5'- TCCTTGTAAGTTCTTTGTAGAAGCAAG -3'

Sequencing Primer
(F):5'- GGAAGTTGAAACCACACATTCTTC -3'
(R):5'- GGCCCATTGGTCTTGAAAAC -3'
Posted On 2021-03-08