Incidental Mutation 'IGL00229:Zfp36l1'
ID 2186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp36l1
Ensembl Gene ENSMUSG00000021127
Gene Name zinc finger protein 36, C3H type-like 1
Synonyms Brf1, D530020L18Rik, cMG1, TIS11b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 12
Chromosomal Location 80154534-80159787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80157238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 48 (G48C)
Ref Sequence ENSEMBL: ENSMUSP00000127522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021552] [ENSMUST00000165114] [ENSMUST00000218835] [ENSMUST00000219642]
AlphaFold P23950
Predicted Effect probably damaging
Transcript: ENSMUST00000021552
AA Change: G48C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021552
Gene: ENSMUSG00000021127
AA Change: G48C

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 damaging
Transcript: ENSMUST00000165114
AA Change: G48C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127522
Gene: ENSMUSG00000021127
AA Change: G48C

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,603 (GRCm39) T929A probably damaging Het
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Adamts12 T A 15: 11,311,685 (GRCm39) M1314K probably benign Het
Alg6 T A 4: 99,641,291 (GRCm39) F152I probably damaging Het
Aopep A G 13: 63,347,314 (GRCm39) probably benign Het
Arid5b A G 10: 67,964,805 (GRCm39) S289P probably damaging Het
Axin1 T C 17: 26,413,046 (GRCm39) F780L probably damaging Het
C9 C T 15: 6,512,712 (GRCm39) S278L possibly damaging Het
Calr4 A T 4: 109,101,312 (GRCm39) I65F probably damaging Het
Cdh23 A G 10: 60,359,327 (GRCm39) V260A probably benign Het
Ddx25 T C 9: 35,454,891 (GRCm39) probably benign Het
Dppa4 A G 16: 48,111,446 (GRCm39) T92A possibly damaging Het
Ercc5 T C 1: 44,203,058 (GRCm39) Y232H probably damaging Het
Exoc4 A G 6: 33,895,334 (GRCm39) probably null Het
Fam149a A G 8: 45,804,823 (GRCm39) V253A probably damaging Het
Fam209 C T 2: 172,316,102 (GRCm39) T159I probably damaging Het
Gcfc2 A T 6: 81,912,996 (GRCm39) N265I probably damaging Het
Glud1 T C 14: 34,058,087 (GRCm39) V366A probably benign Het
Hdac10 T C 15: 89,012,645 (GRCm39) T3A probably damaging Het
Ifnar1 T C 16: 91,286,670 (GRCm39) S54P probably damaging Het
Itpr2 T C 6: 146,045,683 (GRCm39) Y2561C probably damaging Het
Klhl30 A G 1: 91,281,879 (GRCm39) E160G possibly damaging Het
Kmt2d A T 15: 98,760,214 (GRCm39) S1015T unknown Het
Lactb2 A G 1: 13,730,598 (GRCm39) M26T probably damaging Het
Lactbl1 A T 4: 136,358,362 (GRCm39) D111V probably damaging Het
Lig4 T C 8: 10,022,775 (GRCm39) Y335C probably damaging Het
Lrrc8e T A 8: 4,285,921 (GRCm39) D715E probably benign Het
Med6 A T 12: 81,626,348 (GRCm39) V142D possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mettl13 A G 1: 162,363,434 (GRCm39) V600A possibly damaging Het
Mpdz A T 4: 81,228,461 (GRCm39) C1314* probably null Het
Nbeal2 A G 9: 110,464,937 (GRCm39) V1009A probably damaging Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Nudt2 T A 4: 41,480,474 (GRCm39) L119Q probably damaging Het
Or5b117 T C 19: 13,431,204 (GRCm39) M226V possibly damaging Het
Osbpl3 C T 6: 50,300,048 (GRCm39) E519K probably damaging Het
Pak6 A T 2: 118,520,326 (GRCm39) T106S possibly damaging Het
Pggt1b T G 18: 46,413,786 (GRCm39) Q34P probably benign Het
Phactr4 T C 4: 132,098,303 (GRCm39) T322A possibly damaging Het
Plekhj1 T C 10: 80,632,436 (GRCm39) probably null Het
Pnpt1 T C 11: 29,104,217 (GRCm39) probably null Het
Pramel32 A G 4: 88,547,290 (GRCm39) I214T probably damaging Het
Prr14l T C 5: 32,988,020 (GRCm39) I492V probably benign Het
Ranbp2 C A 10: 58,313,078 (GRCm39) A1266E probably damaging Het
Riok3 G A 18: 12,270,077 (GRCm39) D140N probably damaging Het
Rsph4a G A 10: 33,790,339 (GRCm39) E643K probably damaging Het
Scara3 T G 14: 66,170,570 (GRCm39) E103A probably benign Het
Sgk3 T C 1: 9,938,609 (GRCm39) V33A probably damaging Het
Slc38a4 A G 15: 96,897,375 (GRCm39) F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 (GRCm39) V372M probably damaging Het
Slc9a2 A G 1: 40,806,897 (GRCm39) Y728C probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Spidr A T 16: 15,713,442 (GRCm39) L847Q probably damaging Het
Sptb A G 12: 76,667,527 (GRCm39) S857P probably benign Het
Syde1 A G 10: 78,421,643 (GRCm39) V636A probably damaging Het
Syna A G 5: 134,588,571 (GRCm39) L126P possibly damaging Het
Taar2 A G 10: 23,817,266 (GRCm39) T269A possibly damaging Het
Tapbp C T 17: 34,144,678 (GRCm39) T258I probably damaging Het
Tcf20 T A 15: 82,741,343 (GRCm39) Q36L possibly damaging Het
Tmem131l A T 3: 83,849,807 (GRCm39) M260K probably damaging Het
Tnc T A 4: 63,935,061 (GRCm39) probably benign Het
Ugp2 T A 11: 21,304,345 (GRCm39) E27D probably benign Het
Vps35l T A 7: 118,403,414 (GRCm39) probably benign Het
Wdr27 A T 17: 15,148,572 (GRCm39) C140* probably null Het
Wnt2b T C 3: 104,860,449 (GRCm39) T153A possibly damaging Het
Xirp2 A T 2: 67,343,719 (GRCm39) T1987S probably benign Het
Zfp474 A T 18: 52,771,565 (GRCm39) I73F possibly damaging Het
Zfp790 T A 7: 29,527,988 (GRCm39) F224L probably benign Het
Other mutations in Zfp36l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6173:Zfp36l1 UTSW 12 80,156,320 (GRCm39) splice site probably null
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
Posted On 2011-12-09