Incidental Mutation 'R7969:Zfp36l2'
ID 650525
Institutional Source Beutler Lab
Gene Symbol Zfp36l2
Ensembl Gene ENSMUSG00000045817
Gene Name zinc finger protein 36, C3H type-like 2
Synonyms Brf2, Tis11d, ERF2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.827) question?
Stock # R7969 (G1)
Quality Score 181.009
Status Not validated
Chromosome 17
Chromosomal Location 84183931-84187947 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84185824 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 462 (S462P)
Ref Sequence ENSEMBL: ENSMUSP00000050820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047524] [ENSMUST00000060366]
AlphaFold P23949
Predicted Effect probably benign
Transcript: ENSMUST00000047524
SMART Domains Protein: ENSMUSP00000041701
Gene: ENSMUSG00000024251

SCOP:d1gw5a_ 457 926 3e-6 SMART
Pfam:DUF2428 938 1239 1.6e-93 PFAM
SCOP:d1gw5a_ 1343 1802 7e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000060366
AA Change: S462P
SMART Domains Protein: ENSMUSP00000050820
Gene: ENSMUSG00000045817
AA Change: S462P

Pfam:Tis11B_N 1 144 1.5e-43 PFAM
ZnF_C3H1 155 182 9.8e-9 SMART
ZnF_C3H1 193 220 2.1e-8 SMART
low complexity region 223 235 N/A INTRINSIC
low complexity region 286 340 N/A INTRINSIC
low complexity region 345 364 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
low complexity region 436 470 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice expressing decreased levels of an amino-terminal truncated protein display female infertility whereas mice homozygous for a null allele die within two weeks as a result of hematopoietic system defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,440,225 V4414E possibly damaging Het
Ahcyl2 T A 6: 29,870,664 I193N probably damaging Het
Amotl2 C T 9: 102,723,769 T345I probably benign Het
Atf6b A T 17: 34,648,575 probably null Het
Cacna1s T G 1: 136,076,732 F337C probably damaging Het
Cep85l T C 10: 53,298,184 I488V probably damaging Het
Cmas T A 6: 142,775,166 D375E probably damaging Het
Cnga4 T C 7: 105,406,046 F279S probably damaging Het
Cyp4f37 T C 17: 32,625,207 V95A probably benign Het
Dao AGG AG 5: 114,015,209 probably benign Het
Dlg2 T C 7: 92,417,258 F235S probably benign Het
Dmxl2 T C 9: 54,446,881 D427G possibly damaging Het
Efl1 T C 7: 82,692,970 Y529H probably benign Het
Epx C T 11: 87,872,721 M224I probably benign Het
Fetub A G 16: 22,929,699 R101G possibly damaging Het
Fubp1 T A 3: 152,222,246 probably null Het
Impdh2 C T 9: 108,562,306 R153* probably null Het
Kcnj12 C T 11: 61,069,604 Q243* probably null Het
Lrrn1 T A 6: 107,567,850 V203E probably damaging Het
Meikin T C 11: 54,409,710 S338P possibly damaging Het
Myl10 A T 5: 136,700,853 probably null Het
Nt5c3b T C 11: 100,434,741 K120E possibly damaging Het
Olfr118 T A 17: 37,672,656 L211H probably damaging Het
Olfr790 T C 10: 129,501,847 L313S probably benign Het
Olfr802 G A 10: 129,681,830 T303I probably benign Het
Olfr93 T A 17: 37,151,186 N262I possibly damaging Het
Pdzd7 A G 19: 45,036,225 S452P probably benign Het
Prune2 A G 19: 17,201,670 I2982V probably damaging Het
Ptpdc1 G A 13: 48,587,101 R285C probably damaging Het
Raf1 T C 6: 115,620,288 D486G probably damaging Het
Rbm27 A T 18: 42,275,480 probably benign Het
Slit2 A G 5: 48,304,036 Y1475C possibly damaging Het
Snx14 G A 9: 88,413,560 T184M probably damaging Het
Tgm5 G T 2: 121,075,169 N168K probably damaging Het
Ugt2b38 A G 5: 87,424,032 V47A probably benign Het
Ush2a A G 1: 188,826,371 H3599R probably benign Het
Veph1 T C 3: 66,215,475 E211G possibly damaging Het
Wapl T A 14: 34,730,647 H832Q probably damaging Het
Zfp281 T A 1: 136,626,034 V250D probably benign Het
Other mutations in Zfp36l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1219:Zfp36l2 UTSW 17 84187642 critical splice donor site probably null
R1918:Zfp36l2 UTSW 17 84186736 missense probably damaging 0.98
R2126:Zfp36l2 UTSW 17 84186975 missense probably damaging 0.99
R4727:Zfp36l2 UTSW 17 84187661 missense probably benign 0.07
R4915:Zfp36l2 UTSW 17 84186262 unclassified probably benign
R6213:Zfp36l2 UTSW 17 84186552 missense probably damaging 0.98
R6814:Zfp36l2 UTSW 17 84186093 unclassified probably benign
R7011:Zfp36l2 UTSW 17 84186433 missense possibly damaging 0.61
R7455:Zfp36l2 UTSW 17 84187147 missense probably damaging 0.99
R7706:Zfp36l2 UTSW 17 84186918 missense probably benign 0.19
R7936:Zfp36l2 UTSW 17 84187662 missense probably benign 0.16
R8163:Zfp36l2 UTSW 17 84187123 missense possibly damaging 0.91
R8296:Zfp36l2 UTSW 17 84187124 missense probably damaging 0.99
R9634:Zfp36l2 UTSW 17 84186628 missense probably damaging 1.00
R9700:Zfp36l2 UTSW 17 84186756 missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-15