Incidental Mutation 'R4714:Zfp36l1'
ID353463
Institutional Source Beutler Lab
Gene Symbol Zfp36l1
Ensembl Gene ENSMUSG00000021127
Gene Namezinc finger protein 36, C3H type-like 1
SynonymsTIS11b, D530020L18Rik, Brf1, cMG1
MMRRC Submission 041956-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4714 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location80107754-80113013 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80110496 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 37 (D37G)
Ref Sequence ENSEMBL: ENSMUSP00000127522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021552] [ENSMUST00000165114] [ENSMUST00000218835] [ENSMUST00000219642]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021552
AA Change: D37G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021552
Gene: ENSMUSG00000021127
AA Change: D37G

DomainStartEndE-ValueType
Pfam:Tis11B_N 1 107 3.2e-50 PFAM
ZnF_C3H1 114 141 1.07e-9 SMART
ZnF_C3H1 152 179 2.1e-8 SMART
low complexity region 201 218 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
low complexity region 290 318 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165114
AA Change: D37G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127522
Gene: ENSMUSG00000021127
AA Change: D37G

DomainStartEndE-ValueType
Pfam:Tis11B_N 1 105 2.7e-33 PFAM
ZnF_C3H1 114 141 1.07e-9 SMART
ZnF_C3H1 152 179 2.1e-8 SMART
low complexity region 201 218 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
low complexity region 290 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181323
Predicted Effect probably benign
Transcript: ENSMUST00000218835
Predicted Effect probably benign
Transcript: ENSMUST00000219642
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display embryonic lethality with failure of chorioallantoic fusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
4930486L24Rik A G 13: 60,844,318 V298A probably damaging Het
Abca12 A G 1: 71,321,450 V534A probably benign Het
Abcb4 A G 5: 8,930,906 probably null Het
Adam30 A T 3: 98,162,854 S668C probably damaging Het
Ap1g1 T A 8: 109,829,620 V196D probably damaging Het
Atp11b G A 3: 35,834,394 V738I probably benign Het
Cast C T 13: 74,798,715 V27I probably damaging Het
Cfap54 A G 10: 92,815,918 I3090T probably benign Het
Cgn C A 3: 94,779,438 G185W probably damaging Het
Champ1 T C 8: 13,878,063 Y74H probably damaging Het
Cpm T C 10: 117,675,985 I278T probably damaging Het
Dcaf15 T C 8: 84,102,216 T141A probably benign Het
Dcun1d1 C T 3: 35,895,670 V244M probably damaging Het
Defb8 A G 8: 19,447,559 L12P probably damaging Het
Dlg1 A T 16: 31,790,261 I225F probably damaging Het
Dync2h1 G T 9: 7,118,932 H2178N possibly damaging Het
Enam A G 5: 88,503,536 E893G probably damaging Het
Flt4 T A 11: 49,627,207 L358Q probably damaging Het
Frmpd1 A G 4: 45,284,785 Q1202R probably benign Het
Ghr T A 15: 3,320,397 D433V possibly damaging Het
Grm7 G A 6: 111,080,422 D328N possibly damaging Het
Haus4 T C 14: 54,542,120 D349G probably benign Het
Helz T C 11: 107,626,716 probably null Het
Hif3a A G 7: 17,056,271 L69P probably damaging Het
Ifit1 A G 19: 34,648,163 E233G probably damaging Het
Kcnc2 T C 10: 112,455,828 F307S possibly damaging Het
Lrp1b A T 2: 41,110,759 V2151E possibly damaging Het
Lrp5 T C 19: 3,659,454 N92S probably damaging Het
Metrnl C T 11: 121,716,013 A216V probably damaging Het
Msh2 A G 17: 87,718,789 T732A probably damaging Het
Necab2 T C 8: 119,467,595 L270P probably damaging Het
Noc3l T C 19: 38,815,713 K74E probably benign Het
Oas2 A T 5: 120,733,472 L702Q probably damaging Het
Olfr136 A C 17: 38,335,840 I228L possibly damaging Het
Olfr3 A T 2: 36,813,035 I19N probably benign Het
Olfr728 A G 14: 50,139,979 I220T possibly damaging Het
Olfr731 C A 14: 50,238,367 V173L possibly damaging Het
Olfr812 A T 10: 129,842,945 N32K probably damaging Het
Pax6 A G 2: 105,695,400 H376R possibly damaging Het
Pnkd C T 1: 74,351,782 R376C probably damaging Het
Pnpla8 T C 12: 44,295,913 F484S probably damaging Het
Psme4 T A 11: 30,832,573 H909Q probably benign Het
Rasip1 CGG CGGG 7: 45,632,396 probably null Het
Rbm47 A T 5: 66,025,052 Y413N probably damaging Het
Rnf123 A G 9: 108,052,439 probably null Het
Ruvbl1 T A 6: 88,484,430 M259K possibly damaging Het
Sohlh2 A G 3: 55,190,529 H134R probably benign Het
Sorbs2 A G 8: 45,795,293 D447G possibly damaging Het
Tank C T 2: 61,650,229 P370S probably benign Het
Tenm4 A G 7: 96,894,924 E2049G probably damaging Het
Tnik A G 3: 28,594,077 H426R possibly damaging Het
Trpm6 C A 19: 18,854,200 S1476R possibly damaging Het
Trpm7 G A 2: 126,840,783 Q389* probably null Het
Ttc28 G A 5: 111,285,229 R2043Q possibly damaging Het
Tymp A G 15: 89,376,307 S103P probably damaging Het
Usp40 C T 1: 87,967,179 probably null Het
Vmn1r202 T A 13: 22,501,807 N147Y probably damaging Het
Vmn2r89 T C 14: 51,452,231 S64P probably damaging Het
Vps13a A T 19: 16,749,856 D229E probably benign Het
Vps52 A G 17: 33,961,179 I354V probably benign Het
Zbtb8os T C 4: 129,341,764 F90L probably damaging Het
Zfp467 A G 6: 48,427,817 S109P unknown Het
Zzef1 T A 11: 72,837,212 C535S probably damaging Het
Other mutations in Zfp36l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Zfp36l1 APN 12 80110464 missense probably damaging 0.97
brontosouris UTSW 12 80112822 nonsense probably null
R4898:Zfp36l1 UTSW 12 80110524 missense probably benign 0.37
R5908:Zfp36l1 UTSW 12 80109675 missense possibly damaging 0.85
R6173:Zfp36l1 UTSW 12 80109546 unclassified probably null
R6235:Zfp36l1 UTSW 12 80112822 nonsense probably null
RF014:Zfp36l1 UTSW 12 80109744 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GTTTTCTTCGAAGGGACGGC -3'
(R):5'- CTCCTTTTAGAGAGACTGGCC -3'

Sequencing Primer
(F):5'- ACAGCTCCGTCTTGTAGCG -3'
(R):5'- CCTTTTAGAGAGACTGGCCTATCAG -3'
Posted On2015-10-21