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 TIS11b, D530020L18Rik, Brf1, cMG1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 12
Chromosomal Location 80107754-80113013 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80110464 bp (GRCm38)
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
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adam6b G A 12: 113,491,393 R610H probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Alg6 T A 4: 99,753,054 F152I probably damaging Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Olfr1472 T C 19: 13,453,840 M226V possibly damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Sgk3 T C 1: 9,868,384 V33A probably damaging Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Syna A G 5: 134,559,717 L126P possibly damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Zfp36l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
brontosouris UTSW 12 80112822 nonsense probably null
R4714:Zfp36l1 UTSW 12 80110496 missense possibly damaging 0.92
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 splice site probably null
R6235:Zfp36l1 UTSW 12 80112822 nonsense probably null
RF014:Zfp36l1 UTSW 12 80109744 missense probably benign 0.08
Z1177:Zfp36l1 UTSW 12 80109657 missense probably damaging 1.00
Posted On 2011-12-09