Incidental Mutation 'R5556:Nsmaf'
ID 435373
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 043113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 6396207-6454271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6398621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 828 (V828I)
Ref Sequence ENSEMBL: ENSMUSP00000029910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029910] [ENSMUST00000029912] [ENSMUST00000103008] [ENSMUST00000108374]
AlphaFold O35242
Predicted Effect probably benign
Transcript: ENSMUST00000029910
AA Change: V828I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: V828I

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 noncoding transcript
Transcript: ENSMUST00000143704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156715
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G 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
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
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
Predicted Primers PCR Primer
(F):5'- GCATGATCAGGAGACAGTCTG -3'
(R):5'- AGGGACAGTATGTGATGCTGC -3'

Sequencing Primer
(F):5'- GTCATAAAAAGTATGTGACCCTGGCC -3'
(R):5'- AGCCCAGGTACGTGTTATCC -3'
Posted On 2016-10-24