Incidental Mutation 'R6031:Gfi1b'
ID 480377
Institutional Source Beutler Lab
Gene Symbol Gfi1b
Ensembl Gene ENSMUSG00000026815
Gene Name growth factor independent 1B
Synonyms Gfi-1B
MMRRC Submission 044203-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6031 (G1)
Quality Score 210.009
Status Not validated
Chromosome 2
Chromosomal Location 28499462-28511994 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 28503820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 127 (Q127*)
Ref Sequence ENSEMBL: ENSMUSP00000128052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028156] [ENSMUST00000164290]
AlphaFold O70237
Predicted Effect probably null
Transcript: ENSMUST00000028156
AA Change: Q127*
SMART Domains Protein: ENSMUSP00000028156
Gene: ENSMUSG00000026815
AA Change: Q127*

DomainStartEndE-ValueType
low complexity region 39 55 N/A INTRINSIC
ZnF_C2H2 163 186 2.95e-3 SMART
ZnF_C2H2 192 214 5.5e-3 SMART
ZnF_C2H2 220 242 4.79e-3 SMART
ZnF_C2H2 248 270 1.82e-3 SMART
ZnF_C2H2 276 298 1.47e-3 SMART
ZnF_C2H2 304 327 7.78e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155686
Predicted Effect probably null
Transcript: ENSMUST00000164290
AA Change: Q127*
SMART Domains Protein: ENSMUSP00000128052
Gene: ENSMUSG00000026815
AA Change: Q127*

DomainStartEndE-ValueType
low complexity region 39 55 N/A INTRINSIC
ZnF_C2H2 163 186 2.95e-3 SMART
ZnF_C2H2 192 214 5.5e-3 SMART
low complexity region 231 244 N/A INTRINSIC
ZnF_C2H2 253 275 4.79e-3 SMART
ZnF_C2H2 281 303 1.82e-3 SMART
ZnF_C2H2 309 331 1.47e-3 SMART
ZnF_C2H2 337 360 7.78e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.7%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos by day E15. Mature adult red blood cells and megakaryocytes fail to develop. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,084 (GRCm39) Y304H possibly damaging Het
Add2 A G 6: 86,075,655 (GRCm39) E268G probably damaging Het
Akr1b1 A C 6: 34,289,609 (GRCm39) V67G probably benign Het
Alms1 A T 6: 85,599,937 (GRCm39) N1588Y probably damaging Het
Arhgap23 A T 11: 97,366,965 (GRCm39) D1082V probably damaging Het
Asb6 A G 2: 30,714,207 (GRCm39) V301A probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atg7 T A 6: 114,648,194 (GRCm39) C31S probably benign Het
Camsap2 A T 1: 136,208,176 (GRCm39) N1105K possibly damaging Het
Ccdc125 C T 13: 100,820,877 (GRCm39) probably null Het
Ccdc63 T C 5: 122,267,799 (GRCm39) I56V possibly damaging Het
Cpd T C 11: 76,681,714 (GRCm39) E1143G probably benign Het
Cpt1a T A 19: 3,421,556 (GRCm39) probably null Het
Creb3l2 A T 6: 37,311,369 (GRCm39) D473E probably benign Het
Crocc A T 4: 140,761,668 (GRCm39) probably null Het
Ctsd A T 7: 141,930,451 (GRCm39) C364S probably damaging Het
Disp2 G T 2: 118,620,275 (GRCm39) V336L probably benign Het
Efr3b A G 12: 4,017,106 (GRCm39) I782T possibly damaging Het
Fam98a A G 17: 75,846,427 (GRCm39) V230A probably damaging Het
Fat3 T A 9: 15,899,788 (GRCm39) T3082S probably benign Het
Frmd3 T C 4: 74,105,688 (GRCm39) Y445H probably damaging Het
Galt G A 4: 41,757,202 (GRCm39) R185Q probably benign Het
Gatb T C 3: 85,520,818 (GRCm39) I309T possibly damaging Het
Gfpt1 C A 6: 87,063,302 (GRCm39) T563N probably damaging Het
Gria1 A G 11: 57,108,608 (GRCm39) D237G probably damaging Het
Hspbp1 A T 7: 4,666,465 (GRCm39) V305D probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iars1 T C 13: 49,859,307 (GRCm39) V9A probably damaging Het
Ipo4 G A 14: 55,869,596 (GRCm39) P355S probably damaging Het
Jade2 G T 11: 51,717,413 (GRCm39) C314* probably null Het
Kri1 T C 9: 21,186,565 (GRCm39) E597G probably benign Het
Mcub A G 3: 129,720,038 (GRCm39) Y152H probably damaging Het
Med23 C T 10: 24,779,646 (GRCm39) R542* probably null Het
Ndc80 T C 17: 71,818,483 (GRCm39) N291S probably benign Het
Nop2 T C 6: 125,110,529 (GRCm39) probably null Het
Nrxn1 T C 17: 90,896,218 (GRCm39) N984S probably damaging Het
Ntm A C 9: 28,920,671 (GRCm39) L86R probably damaging Het
Numa1 T A 7: 101,661,219 (GRCm39) D1847E possibly damaging Het
Odf2l A G 3: 144,845,624 (GRCm39) Q334R probably damaging Het
Or10ak11 A T 4: 118,687,588 (GRCm39) probably null Het
Or2ag2 C T 7: 106,485,134 (GRCm39) V297I possibly damaging Het
Or4a39 T A 2: 89,237,316 (GRCm39) T36S probably damaging Het
Or5ac17 T C 16: 59,036,296 (GRCm39) R227G probably benign Het
Or6ae1 A T 7: 139,742,722 (GRCm39) V47E possibly damaging Het
Or6c203 A G 10: 129,010,224 (GRCm39) V222A probably benign Het
Pacc1 A G 1: 191,073,037 (GRCm39) R153G probably benign Het
Pcdhb19 A T 18: 37,630,776 (GRCm39) K190N probably damaging Het
Pdik1l A G 4: 134,006,352 (GRCm39) F197L probably damaging Het
Rnf113a2 T C 12: 84,464,764 (GRCm39) F219L probably damaging Het
Rnf208 A C 2: 25,133,776 (GRCm39) T157P probably damaging Het
Scn8a A T 15: 100,881,865 (GRCm39) D644V probably damaging Het
Thbs3 T A 3: 89,125,401 (GRCm39) C204S probably damaging Het
Tlr3 A G 8: 45,851,565 (GRCm39) I444T probably damaging Het
Trpm8 A T 1: 88,282,191 (GRCm39) I696F possibly damaging Het
Ttn A T 2: 76,660,941 (GRCm39) V7422D possibly damaging Het
Ufl1 A G 4: 25,278,038 (GRCm39) V139A probably benign Het
Uggt2 A T 14: 119,308,238 (GRCm39) V381D probably benign Het
Vgll3 T A 16: 65,636,367 (GRCm39) Y173N probably damaging Het
Vmn1r9 A G 6: 57,048,158 (GRCm39) T78A probably benign Het
Vps13b T A 15: 35,472,114 (GRCm39) L806M probably damaging Het
Vps13d A C 4: 144,895,079 (GRCm39) H394Q probably benign Het
Wdr53 T A 16: 32,075,536 (GRCm39) V247D probably damaging Het
Wdr81 A T 11: 75,338,695 (GRCm39) L1488Q probably damaging Het
Zc3h6 A G 2: 128,809,732 (GRCm39) D3G possibly damaging Het
Zfp93 G T 7: 23,975,725 (GRCm39) C570F probably damaging Het
Zfp943 C T 17: 22,212,357 (GRCm39) T481I probably benign Het
Other mutations in Gfi1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Gfi1b APN 2 28,504,797 (GRCm39) nonsense probably null
IGL01595:Gfi1b APN 2 28,501,429 (GRCm39) critical splice donor site probably null
R0196:Gfi1b UTSW 2 28,503,786 (GRCm39) missense probably damaging 1.00
R0321:Gfi1b UTSW 2 28,503,897 (GRCm39) missense probably damaging 0.98
R1078:Gfi1b UTSW 2 28,503,877 (GRCm39) missense probably damaging 1.00
R1935:Gfi1b UTSW 2 28,500,125 (GRCm39) missense possibly damaging 0.78
R1936:Gfi1b UTSW 2 28,500,125 (GRCm39) missense possibly damaging 0.78
R2311:Gfi1b UTSW 2 28,500,186 (GRCm39) missense probably damaging 1.00
R4646:Gfi1b UTSW 2 28,500,149 (GRCm39) missense probably damaging 0.99
R4911:Gfi1b UTSW 2 28,500,114 (GRCm39) missense probably damaging 1.00
R6031:Gfi1b UTSW 2 28,503,820 (GRCm39) nonsense probably null
R8029:Gfi1b UTSW 2 28,503,687 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2017-06-26