Incidental Mutation 'IGL02094:Zfp36'
ID279545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp36
Ensembl Gene ENSMUSG00000044786
Gene Namezinc finger protein 36
SynonymsTis11, Ttp, Zfp-36, Tristetraprolin, Nup475
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #IGL02094
Quality Score
Status
Chromosome7
Chromosomal Location28376784-28380253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 28377763 bp
ZygosityHeterozygous
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]
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: 55,871,445 N658S possibly damaging Het
Adcy10 T C 1: 165,570,620 Y1429H probably damaging Het
Aebp1 G A 11: 5,868,357 M98I probably benign Het
Arl3 T C 19: 46,558,341 D15G probably benign Het
Casp2 T A 6: 42,280,359 I414N probably damaging Het
Ceacam1 T C 7: 25,474,543 D229G probably damaging Het
Cog7 G T 7: 121,963,247 A234E probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a59 A T 5: 146,104,821 T392S probably benign Het
Ebf2 G A 14: 67,235,240 V36M possibly damaging Het
Fbxw15 A C 9: 109,558,240 V229G possibly damaging Het
Got1l1 A G 8: 27,199,845 V171A probably benign Het
Itgax A G 7: 128,131,473 Y121C probably damaging Het
Kcng4 C A 8: 119,633,221 A139S probably damaging Het
Kcnj9 G T 1: 172,325,708 T283K probably damaging Het
Mgl2 T A 11: 70,137,097 I377K possibly damaging Het
Myo15 T C 11: 60,510,647 probably benign Het
Nod1 A T 6: 54,939,390 probably null Het
Nr1h5 A T 3: 102,952,196 C182* probably null Het
Nup210l G T 3: 90,180,213 probably null Het
Ptbp2 G A 3: 119,752,940 probably benign Het
Ptpn13 T G 5: 103,594,617 F2401V probably damaging Het
Rbbp6 T C 7: 122,997,262 S676P probably damaging Het
Recql4 T A 15: 76,709,517 Q131L probably benign Het
Sbno2 G A 10: 80,057,645 P1274L probably benign Het
Sec24c T C 14: 20,688,402 V341A probably damaging Het
Smc1b A T 15: 85,097,891 probably benign Het
Sptbn1 T C 11: 30,100,659 H2310R probably benign Het
Tas2r109 T A 6: 132,980,239 I243F possibly damaging Het
Trpc1 A C 9: 95,743,281 D97E probably damaging Het
Trpm2 G A 10: 77,942,996 Q379* probably null Het
Ttn A G 2: 76,818,823 probably benign Het
Vmn2r74 A T 7: 85,961,461 F8I probably benign Het
Zfp65 A G 13: 67,708,185 I325T possibly damaging Het
Other mutations in Zfp36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Zfp36 APN 7 28378463 missense probably damaging 0.99
R0241:Zfp36 UTSW 7 28378334 missense probably damaging 0.96
R0241:Zfp36 UTSW 7 28378334 missense probably damaging 0.96
R0288:Zfp36 UTSW 7 28378241 missense probably benign
R1941:Zfp36 UTSW 7 28377646 missense probably damaging 0.98
R3625:Zfp36 UTSW 7 28378256 missense probably benign 0.00
R3744:Zfp36 UTSW 7 28377776 missense probably benign 0.21
R4385:Zfp36 UTSW 7 28377691 missense probably benign 0.11
R5387:Zfp36 UTSW 7 28377868 missense possibly damaging 0.72
Posted On2015-04-16