Incidental Mutation 'IGL02094:Zfp36'
ID 279545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp36
Ensembl Gene ENSMUSG00000044786
Gene Name zinc finger protein 36
Synonyms Tis11, Nup475, Zfp-36, Tristetraprolin, Ttp
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # IGL02094
Quality Score
Status
Chromosome 7
Chromosomal Location 28076208-28078680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28077188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 240 (S240N)
Ref Sequence ENSEMBL: ENSMUSP00000146830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051241] [ENSMUST00000209061]
AlphaFold P22893
Predicted Effect probably benign
Transcript: ENSMUST00000051241
AA Change: S252N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057815
Gene: ENSMUSG00000044786
AA Change: S252N

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
low complexity region 80 94 N/A INTRINSIC
ZnF_C3H1 95 122 7.54e-10 SMART
ZnF_C3H1 133 160 7.31e-8 SMART
low complexity region 178 222 N/A INTRINSIC
low complexity region 279 289 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208885
Predicted Effect probably benign
Transcript: ENSMUST00000209061
AA Change: S240N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes are normal at birth but soon develop myeloid hyperplasia, cachexia, patchy alopecia, dermatitis, arthritis, loss of adiposity, conjunctivitis, glomerular mesangial thickening and autoimmunity, with variable severity. All aspects of the syndrome are normalized by TNF antibody treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,324,480 (GRCm39) N658S possibly damaging Het
Adcy10 T C 1: 165,398,189 (GRCm39) Y1429H probably damaging Het
Aebp1 G A 11: 5,818,357 (GRCm39) M98I probably benign Het
Arl3 T C 19: 46,546,780 (GRCm39) D15G probably benign Het
Casp2 T A 6: 42,257,293 (GRCm39) I414N probably damaging Het
Ceacam1 T C 7: 25,173,968 (GRCm39) D229G probably damaging Het
Cog7 G T 7: 121,562,470 (GRCm39) A234E probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a59 A T 5: 146,041,631 (GRCm39) T392S probably benign Het
Ebf2 G A 14: 67,472,689 (GRCm39) V36M possibly damaging Het
Fbxw15 A C 9: 109,387,308 (GRCm39) V229G possibly damaging Het
Got1l1 A G 8: 27,689,873 (GRCm39) V171A probably benign Het
Itgax A G 7: 127,730,645 (GRCm39) Y121C probably damaging Het
Kcng4 C A 8: 120,359,960 (GRCm39) A139S probably damaging Het
Kcnj9 G T 1: 172,153,275 (GRCm39) T283K probably damaging Het
Mgl2 T A 11: 70,027,923 (GRCm39) I377K possibly damaging Het
Myo15a T C 11: 60,401,473 (GRCm39) probably benign Het
Nod1 A T 6: 54,916,375 (GRCm39) probably null Het
Nr1h5 A T 3: 102,859,512 (GRCm39) C182* probably null Het
Nup210l G T 3: 90,087,520 (GRCm39) probably null Het
Ptbp2 G A 3: 119,546,589 (GRCm39) probably benign Het
Ptpn13 T G 5: 103,742,483 (GRCm39) F2401V probably damaging Het
Rbbp6 T C 7: 122,596,485 (GRCm39) S676P probably damaging Het
Recql4 T A 15: 76,593,717 (GRCm39) Q131L probably benign Het
Sbno2 G A 10: 79,893,479 (GRCm39) P1274L probably benign Het
Sec24c T C 14: 20,738,470 (GRCm39) V341A probably damaging Het
Smc1b A T 15: 84,982,092 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,050,659 (GRCm39) H2310R probably benign Het
Tas2r109 T A 6: 132,957,202 (GRCm39) I243F possibly damaging Het
Trpc1 A C 9: 95,625,334 (GRCm39) D97E probably damaging Het
Trpm2 G A 10: 77,778,830 (GRCm39) Q379* probably null Het
Ttn A G 2: 76,649,167 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,610,669 (GRCm39) F8I probably benign Het
Zfp65 A G 13: 67,856,304 (GRCm39) I325T possibly damaging Het
Other mutations in Zfp36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Zfp36 APN 7 28,077,888 (GRCm39) missense probably damaging 0.99
R0241:Zfp36 UTSW 7 28,077,759 (GRCm39) missense probably damaging 0.96
R0241:Zfp36 UTSW 7 28,077,759 (GRCm39) missense probably damaging 0.96
R0288:Zfp36 UTSW 7 28,077,666 (GRCm39) missense probably benign
R1941:Zfp36 UTSW 7 28,077,071 (GRCm39) missense probably damaging 0.98
R3625:Zfp36 UTSW 7 28,077,681 (GRCm39) missense probably benign 0.00
R3744:Zfp36 UTSW 7 28,077,201 (GRCm39) missense probably benign 0.21
R4385:Zfp36 UTSW 7 28,077,116 (GRCm39) missense probably benign 0.11
R5387:Zfp36 UTSW 7 28,077,293 (GRCm39) missense possibly damaging 0.72
R9787:Zfp36 UTSW 7 28,077,344 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16