Incidental Mutation 'P0045:Litaf'
ID 7668
Institutional Source Beutler Lab
Gene Symbol Litaf
Ensembl Gene ENSMUSG00000022500
Gene Name LPS-induced TN factor
Synonyms Nedd4 WW domain-binding protein 3, TBX1 protein, 3222402J11Rik, N4WBP3
MMRRC Submission 038292-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # P0045 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 10777137-10810985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10781229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 90 (R90H)
Ref Sequence ENSEMBL: ENSMUSP00000123948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023143] [ENSMUST00000117360] [ENSMUST00000162323]
AlphaFold Q9JLJ0
Predicted Effect probably benign
Transcript: ENSMUST00000023143
AA Change: R90H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023143
Gene: ENSMUSG00000022500
AA Change: R90H

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
LITAF 91 160 6.71e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117360
AA Change: R90H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112667
Gene: ENSMUSG00000022500
AA Change: R90H

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
LITAF 91 160 6.71e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140170
Predicted Effect probably benign
Transcript: ENSMUST00000162323
AA Change: R90H

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123948
Gene: ENSMUSG00000022500
AA Change: R90H

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177685
Meta Mutation Damage Score 0.5452 question?
Coding Region Coverage
  • 1x: 79.8%
  • 3x: 69.7%
  • 10x: 39.8%
  • 20x: 17.7%
Validation Efficiency 80% (82/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous ablation of this gene in macrophages results in reduced cytokine secretion in response to LPS stimulation, and increased resistance to LPS-induced septic shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T A 11: 83,258,852 (GRCm39) N736K probably damaging Het
Chsy3 C A 18: 59,542,078 (GRCm39) Y405* probably null Het
Col12a1 A G 9: 79,554,893 (GRCm39) S2062P probably damaging Het
Ddx42 T A 11: 106,122,098 (GRCm39) D204E probably damaging Het
Dnah11 A G 12: 117,994,062 (GRCm39) V2328A probably benign Het
Efcab6 T C 15: 83,802,400 (GRCm39) K876E probably damaging Het
Immt T G 6: 71,845,601 (GRCm39) I404M possibly damaging Het
Kcp A G 6: 29,498,347 (GRCm39) V403A probably damaging Het
Med12l T A 3: 58,998,956 (GRCm39) S639T probably damaging Het
Pcm1 T A 8: 41,741,134 (GRCm39) M1091K probably damaging Het
Pramel1 C T 4: 143,125,092 (GRCm39) R339* probably null Het
Prss32 A G 17: 24,078,294 (GRCm39) S327G probably benign Het
Tnfsf8 A G 4: 63,769,404 (GRCm39) probably benign Het
Tpm3 T C 3: 89,998,400 (GRCm39) probably null Het
Ubac2 T C 14: 122,211,008 (GRCm39) probably benign Het
Yeats2 A G 16: 19,975,695 (GRCm39) E117G possibly damaging Het
Other mutations in Litaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02498:Litaf APN 16 10,784,423 (GRCm39) missense possibly damaging 0.60
IGL03274:Litaf APN 16 10,784,433 (GRCm39) missense probably damaging 1.00
R0112:Litaf UTSW 16 10,784,375 (GRCm39) missense probably damaging 0.96
R0631:Litaf UTSW 16 10,784,276 (GRCm39) splice site probably benign
R5027:Litaf UTSW 16 10,778,868 (GRCm39) missense possibly damaging 0.95
R7352:Litaf UTSW 16 10,781,217 (GRCm39) missense probably damaging 0.96
R8826:Litaf UTSW 16 10,784,421 (GRCm39) missense probably benign 0.00
Posted On 2012-10-29