Incidental Mutation 'IGL03274:Litaf'
ID 415355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Litaf
Ensembl Gene ENSMUSG00000022500
Gene Name LPS-induced TN factor
Synonyms Nedd4 WW domain-binding protein 3, TBX1 protein, 3222402J11Rik, N4WBP3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # IGL03274
Quality Score
Status
Chromosome 16
Chromosomal Location 10777137-10810985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10784433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 26 (T26A)
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: T26A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023143
Gene: ENSMUSG00000022500
AA Change: T26A

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: T26A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112667
Gene: ENSMUSG00000022500
AA Change: T26A

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 damaging
Transcript: ENSMUST00000162323
AA Change: T26A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123948
Gene: ENSMUSG00000022500
AA Change: T26A

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177685
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adissp A T 2: 130,995,512 (GRCm39) probably null Het
Anln C A 9: 22,293,565 (GRCm39) R26M probably damaging Het
Capn15 A T 17: 26,180,812 (GRCm39) S753T probably damaging Het
Ccdc62 A G 5: 124,092,743 (GRCm39) N576S probably benign Het
Csmd3 T C 15: 47,508,900 (GRCm39) D2895G probably damaging Het
Dspp T A 5: 104,322,814 (GRCm39) V37E probably damaging Het
Efcab3 A T 11: 104,611,919 (GRCm39) D587V probably benign Het
Efcab6 T C 15: 83,752,450 (GRCm39) D1473G probably damaging Het
Ehhadh T C 16: 21,582,090 (GRCm39) probably benign Het
Fbln1 T C 15: 85,116,879 (GRCm39) probably null Het
Gbp9 A G 5: 105,230,652 (GRCm39) V424A possibly damaging Het
Gda T C 19: 21,394,371 (GRCm39) Y236C possibly damaging Het
Gm4884 A G 7: 40,693,969 (GRCm39) E646G probably damaging Het
Gm4952 C A 19: 12,600,960 (GRCm39) probably benign Het
Gm5422 G T 10: 31,126,348 (GRCm39) noncoding transcript Het
Grin2b C T 6: 135,757,253 (GRCm39) D403N possibly damaging Het
Hsf2bp G A 17: 32,226,744 (GRCm39) R204C probably damaging Het
Il16 T C 7: 83,310,442 (GRCm39) E488G probably damaging Het
Kat6b G T 14: 21,659,831 (GRCm39) D212Y possibly damaging Het
Kctd2 A C 11: 115,320,208 (GRCm39) I247L possibly damaging Het
Kel T A 6: 41,664,929 (GRCm39) probably null Het
Krt20 A T 11: 99,320,855 (GRCm39) probably benign Het
N4bp2l2 G T 5: 150,584,931 (GRCm39) Q350K probably damaging Het
Nav2 T G 7: 49,011,847 (GRCm39) I26S probably damaging Het
Nfya A G 17: 48,698,375 (GRCm39) Y162H probably damaging Het
Or2g25 C T 17: 37,970,646 (GRCm39) A193T probably benign Het
Pbx4 A T 8: 70,319,200 (GRCm39) S244C probably damaging Het
Pcdhb16 T C 18: 37,612,285 (GRCm39) V415A probably benign Het
Rbbp8 A G 18: 11,874,133 (GRCm39) probably benign Het
Sp100 T C 1: 85,635,025 (GRCm39) probably benign Het
Spag16 A G 1: 69,883,540 (GRCm39) probably benign Het
Star A G 8: 26,301,082 (GRCm39) D138G possibly damaging Het
Other mutations in Litaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02498:Litaf APN 16 10,784,423 (GRCm39) missense possibly damaging 0.60
P0045:Litaf UTSW 16 10,781,229 (GRCm39) missense probably benign 0.04
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 2016-08-02