Incidental Mutation 'R3625:Zfp36'
ID 269374
Institutional Source Beutler Lab
Gene Symbol Zfp36
Ensembl Gene ENSMUSG00000044786
Gene Name zinc finger protein 36
Synonyms Tis11, Nup475, Zfp-36, Tristetraprolin, Ttp
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R3625 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28076208-28078680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28077681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 76 (A76S)
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: A88S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057815
Gene: ENSMUSG00000044786
AA Change: A88S

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: A76S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0847 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg3 T A 16: 44,995,624 (GRCm39) I119N probably benign Het
Cdh12 G C 15: 21,358,842 (GRCm39) V89L probably damaging Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Map6 A T 7: 98,918,402 (GRCm39) T189S possibly damaging Het
Mms22l T A 4: 24,505,357 (GRCm39) S206T probably damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Nkx6-2 A G 7: 139,162,106 (GRCm39) F117S possibly damaging Het
Ociad2 C T 5: 73,481,173 (GRCm39) C72Y probably damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Other mutations in Zfp36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Zfp36 APN 7 28,077,888 (GRCm39) missense probably damaging 0.99
IGL02094:Zfp36 APN 7 28,077,188 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GAGGTAGAACTTGTGGCAGAGTTC -3'
(R):5'- TCCAGTCGATGAGCCATGAC -3'

Sequencing Primer
(F):5'- GGCAGAGTTCCGTTTTGTAC -3'
(R):5'- AATCCCTCGGAGGACTTTGGAAC -3'
Posted On 2015-02-19