Incidental Mutation 'R4385:Zfp36'
ID 326166
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 041124-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R4385 (G1)
Quality Score 203
Status Not validated
Chromosome 7
Chromosomal Location 28076208-28078680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28077116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 264 (D264G)
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: D276G

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057815
Gene: ENSMUSG00000044786
AA Change: D276G

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: D264G

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,259,065 (GRCm39) I426N probably damaging Het
Abcc6 C T 7: 45,644,752 (GRCm39) V808I possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Apbb1 A G 7: 105,216,483 (GRCm39) S140P probably benign Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cdc27 T C 11: 104,425,640 (GRCm39) R59G probably benign Het
Cfap43 T C 19: 47,785,568 (GRCm39) R441G probably benign Het
Chsy3 A G 18: 59,309,424 (GRCm39) I226V probably benign Het
Chsy3 A T 18: 59,312,546 (GRCm39) T340S possibly damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Col5a1 A C 2: 27,914,791 (GRCm39) M136L probably damaging Het
Coro2a A T 4: 46,541,961 (GRCm39) I387N possibly damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cyfip2 C T 11: 46,133,230 (GRCm39) M823I probably benign Het
Dcbld2 A G 16: 58,283,429 (GRCm39) K555E probably damaging Het
Dpep3 A G 8: 106,704,818 (GRCm39) M164T probably damaging Het
Flg C A 3: 93,200,316 (GRCm39) probably benign Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Ift172 T C 5: 31,444,311 (GRCm39) D37G probably damaging Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk1 A T 7: 43,877,993 (GRCm39) D83V probably benign Het
Klk1b9 T C 7: 43,443,699 (GRCm39) V71A probably benign Het
Loxhd1 A G 18: 77,460,607 (GRCm39) K806R probably damaging Het
Metap1 T C 3: 138,180,824 (GRCm39) E119G possibly damaging Het
Nbea T C 3: 55,908,059 (GRCm39) H1351R possibly damaging Het
Nim1k T C 13: 120,174,162 (GRCm39) D244G probably damaging Het
Npas1 C T 7: 16,193,110 (GRCm39) probably null Het
Pcdh15 A G 10: 74,386,322 (GRCm39) D1136G probably damaging Het
Pde6b A G 5: 108,575,508 (GRCm39) I657V probably benign Het
Pi4ka A G 16: 17,204,129 (GRCm39) V55A probably benign Het
Plxnb2 T C 15: 89,044,826 (GRCm39) N1173S probably damaging Het
Pramel23 C T 4: 143,424,584 (GRCm39) probably null Het
Ptpn13 T C 5: 103,681,273 (GRCm39) probably null Het
Ptprb A G 10: 116,182,772 (GRCm39) S1483G probably benign Het
Rbm48 G A 5: 3,640,300 (GRCm39) P360S probably damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Resf1 T C 6: 149,227,706 (GRCm39) S251P possibly damaging Het
Rfpl4 A G 7: 5,113,669 (GRCm39) S165P possibly damaging Het
Scn9a A T 2: 66,314,900 (GRCm39) L1595Q probably damaging Het
Scp2 A T 4: 107,928,547 (GRCm39) V381D probably damaging Het
Sec24c G A 14: 20,740,841 (GRCm39) V620M probably damaging Het
Slc30a9 T C 5: 67,473,110 (GRCm39) Y65H probably damaging Het
Sorcs1 A G 19: 50,178,599 (GRCm39) I841T probably benign Het
Sp140l1 C T 1: 85,087,057 (GRCm39) probably null Het
Spag7 C T 11: 70,560,029 (GRCm39) A27T probably damaging Het
St6galnac6 A G 2: 32,505,036 (GRCm39) I181V possibly damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Ugt3a1 C T 15: 9,306,565 (GRCm39) S238F probably benign Het
Usp9y G A Y: 1,304,756 (GRCm39) L2363F probably damaging Het
Vmn1r34 T A 6: 66,614,123 (GRCm39) H205L probably damaging Het
Vps50 C A 6: 3,516,694 (GRCm39) Q59K probably benign Het
Zeb2 T A 2: 44,913,074 (GRCm39) D39V probably damaging Het
Zfp146 G A 7: 29,861,847 (GRCm39) T65I 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
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
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'- AACTTAGAGGAGTGCCCCAG -3'
(R):5'- TGCTGCGACAAAGCATCAG -3'

Sequencing Primer
(F):5'- GGTCCCCACAGCAATGAG -3'
(R):5'- GCATCAGCTTCTCCGGC -3'
Posted On 2015-07-06