Incidental Mutation 'R6173:Zfp36l1'
ID 526477
Institutional Source Beutler Lab
Gene Symbol Zfp36l1
Ensembl Gene ENSMUSG00000021127
Gene Name zinc finger protein 36, C3H type-like 1
Synonyms Brf1, D530020L18Rik, cMG1, TIS11b
MMRRC Submission 044316-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6173 (G1)
Quality Score 75.0075
Status Validated
Chromosome 12
Chromosomal Location 80154534-80159787 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 80156320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021552] [ENSMUST00000165114] [ENSMUST00000218835] [ENSMUST00000219642]
AlphaFold P23950
Predicted Effect probably benign
Transcript: ENSMUST00000021552
SMART Domains Protein: ENSMUSP00000021552
Gene: ENSMUSG00000021127

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 probably benign
Transcript: ENSMUST00000165114
SMART Domains Protein: ENSMUSP00000127522
Gene: ENSMUSG00000021127

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 null
Transcript: ENSMUST00000218835
Predicted Effect probably benign
Transcript: ENSMUST00000219642
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 T C 3: 126,846,395 (GRCm39) D219G probably damaging Het
Arap2 A T 5: 62,906,965 (GRCm39) I18N probably damaging Het
Baz1b T C 5: 135,271,361 (GRCm39) S1315P probably benign Het
Bbs7 A T 3: 36,646,523 (GRCm39) C432* probably null Het
Bend3 A G 10: 43,385,864 (GRCm39) T86A probably benign Het
Cadm2 C T 16: 66,679,729 (GRCm39) V35I probably benign Het
Ch25h A G 19: 34,451,896 (GRCm39) S211P probably damaging Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Chia1 T C 3: 106,036,338 (GRCm39) probably null Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Dazl A T 17: 50,594,599 (GRCm39) M152K probably benign Het
Dnah17 A G 11: 117,930,772 (GRCm39) S3748P probably damaging Het
Dock2 T C 11: 34,212,388 (GRCm39) K1251R probably null Het
Esr1 T C 10: 4,696,760 (GRCm39) V203A probably damaging Het
F830045P16Rik A G 2: 129,305,588 (GRCm39) I262T probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Fshb T C 2: 106,887,638 (GRCm39) E127G possibly damaging Het
Galk2 A G 2: 125,701,137 (GRCm39) probably benign Het
Gid4 A G 11: 60,323,241 (GRCm39) D111G probably damaging Het
Gm14412 G A 2: 177,006,330 (GRCm39) P522S probably damaging Het
Iqank1 A G 15: 75,917,237 (GRCm39) E290G probably damaging Het
Mfap4 A G 11: 61,376,245 (GRCm39) probably null Het
Mfsd2a A G 4: 122,845,039 (GRCm39) V224A probably benign Het
Mocos A T 18: 24,809,639 (GRCm39) Y414F probably benign Het
Mrto4 T C 4: 139,077,755 (GRCm39) I27V probably benign Het
Muc4 A G 16: 32,554,958 (GRCm39) probably benign Het
Mug1 T A 6: 121,840,752 (GRCm39) I534N probably damaging Het
Mup20 A T 4: 61,972,267 (GRCm39) L7Q unknown Het
Nlrp2 T C 7: 5,340,808 (GRCm39) E2G probably damaging Het
Or11g1 A G 14: 50,651,654 (GRCm39) I218V possibly damaging Het
Or12k7 A G 2: 36,959,091 (GRCm39) Y258C possibly damaging Het
Or2y16 T C 11: 49,335,299 (GRCm39) V207A probably benign Het
Or6z5 C T 7: 6,477,835 (GRCm39) A242V probably damaging Het
Parn T C 16: 13,469,675 (GRCm39) T209A possibly damaging Het
Psip1 T A 4: 83,391,286 (GRCm39) probably null Het
Ptprc A C 1: 137,995,628 (GRCm39) C1157G probably damaging Het
Rad17 A C 13: 100,759,389 (GRCm39) V546G probably benign Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Safb A G 17: 56,904,798 (GRCm39) E124G probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Skint5 T C 4: 113,392,907 (GRCm39) T1242A unknown Het
Slc13a5 C T 11: 72,144,023 (GRCm39) E352K probably benign Het
Sohlh2 G T 3: 55,104,419 (GRCm39) V263F probably benign Het
Strn A G 17: 79,008,298 (GRCm39) Y107H probably damaging Het
Tbx15 G T 3: 99,161,203 (GRCm39) E3* probably null Het
Tespa1 A G 10: 130,183,172 (GRCm39) D39G probably benign Het
Trp73 A T 4: 154,188,798 (GRCm39) D54E probably damaging Het
Ttll5 A T 12: 85,980,151 (GRCm39) S912C probably damaging Het
Utp14b A T 1: 78,643,554 (GRCm39) D484V probably benign Het
Utp14b A C 1: 78,643,557 (GRCm39) N485T probably benign Het
Vmn2r29 T C 7: 7,234,369 (GRCm39) E839G probably benign Het
Vmn2r6 G C 3: 64,467,176 (GRCm39) P108A probably damaging Het
Vps8 T G 16: 21,314,682 (GRCm39) probably null Het
Zfp998 T A 13: 66,579,608 (GRCm39) T292S probably benign Het
Zp3r A T 1: 130,519,305 (GRCm39) probably null Het
Other mutations in Zfp36l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Zfp36l1 APN 12 80,157,238 (GRCm39) missense probably damaging 0.97
brontosouris UTSW 12 80,159,596 (GRCm39) nonsense probably null
R4714:Zfp36l1 UTSW 12 80,157,270 (GRCm39) missense possibly damaging 0.92
R4898:Zfp36l1 UTSW 12 80,157,298 (GRCm39) missense probably benign 0.37
R5908:Zfp36l1 UTSW 12 80,156,449 (GRCm39) missense possibly damaging 0.85
R6235:Zfp36l1 UTSW 12 80,159,596 (GRCm39) nonsense probably null
RF014:Zfp36l1 UTSW 12 80,156,518 (GRCm39) missense probably benign 0.08
Z1177:Zfp36l1 UTSW 12 80,156,431 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATGGAACTCTGTTATGCGTG -3'
(R):5'- ATGTCCGAATCCCCTCACATG -3'

Sequencing Primer
(F):5'- GAACTCTGTTATGCGTGGTTAAG -3'
(R):5'- CGAATCCCCTCACATGTTTGAC -3'
Posted On 2018-07-16