Incidental Mutation 'R9787:Zfp36'
ID 734401
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R9787 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28076208-28078680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28077344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 200 (L200Q)
Ref Sequence ENSEMBL: ENSMUSP00000057815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051241] [ENSMUST00000209061]
AlphaFold P22893
PDB Structure NMR structure of the first Zinc Binding domain of Nup475/TTP/TIS11 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000051241
AA Change: L200Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057815
Gene: ENSMUSG00000044786
AA Change: L200Q

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 probably damaging
Transcript: ENSMUST00000209061
AA Change: L188Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,150,695 (GRCm39) T26A probably benign Het
Arhgap27 A G 11: 103,230,048 (GRCm39) S239P possibly damaging Het
Bambi T C 18: 3,511,515 (GRCm39) V112A possibly damaging Het
BC034090 T A 1: 155,117,955 (GRCm39) E54D possibly damaging Het
Cdin1 T A 2: 115,505,236 (GRCm39) L169Q probably damaging Het
Chst13 C T 6: 90,286,074 (GRCm39) R296H probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Ctbs T A 3: 146,160,109 (GRCm39) V46E probably damaging Het
Cyp2b9 A G 7: 25,900,259 (GRCm39) I356V probably benign Het
Dot1l A G 10: 80,600,472 (GRCm39) T40A probably benign Het
Dst C T 1: 34,219,524 (GRCm39) T1988M probably benign Het
Fam184a T A 10: 53,626,864 (GRCm39) D38V possibly damaging Het
Fank1 T A 7: 133,463,887 (GRCm39) F83I probably damaging Het
Fto T A 8: 92,211,886 (GRCm39) W404R probably damaging Het
Gabra4 T A 5: 71,791,004 (GRCm39) R279S possibly damaging Het
Garem2 C T 5: 30,319,219 (GRCm39) P227L probably damaging Het
Gfra4 C A 2: 130,884,600 (GRCm39) M1I probably null Het
Gin1 T A 1: 97,703,211 (GRCm39) H11Q probably damaging Het
Gli3 G A 13: 15,900,386 (GRCm39) G1258R probably damaging Het
Gsx1 T C 5: 147,126,677 (GRCm39) S167P probably damaging Het
Gtf2b AATCATC AATC 3: 142,477,178 (GRCm39) probably benign Het
Il7 G A 3: 7,641,171 (GRCm39) R82C probably damaging Het
Lair1 A T 7: 4,013,794 (GRCm39) V151E probably damaging Het
Lpar1 T C 4: 58,437,349 (GRCm39) D360G probably benign Het
Malrd1 T A 2: 15,625,401 (GRCm39) N345K unknown Het
Mbnl1 T A 3: 60,503,086 (GRCm39) N82K probably damaging Het
Mtdh C A 15: 34,123,844 (GRCm39) T357N probably benign Het
Muc6 T A 7: 141,227,748 (GRCm39) K1306* probably null Het
Nsd1 T A 13: 55,461,518 (GRCm39) C2685S probably benign Het
Optn T A 2: 5,036,150 (GRCm39) Q444L probably damaging Het
Or6a2 A T 7: 106,600,899 (GRCm39) L56H probably damaging Het
Pan2 T A 10: 128,144,223 (GRCm39) D157E probably benign Het
Pole G A 5: 110,465,866 (GRCm39) probably null Het
Stau2 A T 1: 16,530,595 (GRCm39) I108N unknown Het
Sugp2 A G 8: 70,695,428 (GRCm39) K134E probably benign Het
Tcaf3 C T 6: 42,574,024 (GRCm39) V63I probably benign Het
Tcf7 T A 11: 52,173,773 (GRCm39) probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tubb2b T C 13: 34,312,409 (GRCm39) D128G probably benign Het
Umodl1 A T 17: 31,178,324 (GRCm39) Q100L probably damaging Het
Unc79 T A 12: 103,112,620 (GRCm39) N2230K probably benign Het
Zc3hav1l T C 6: 38,272,101 (GRCm39) T223A probably benign Het
Zfhx4 G A 3: 5,455,506 (GRCm39) D1167N possibly damaging Het
Zswim9 T A 7: 12,994,205 (GRCm39) L650F probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGGCGTAGTCATCAGGATCG -3'
(R):5'- CACAAGTTCTACCTCCAGGG -3'

Sequencing Primer
(F):5'- AGTGGGCAGATGGGCTC -3'
(R):5'- TACCTCCAGGGCCGCTG -3'
Posted On 2022-11-14