Incidental Mutation 'IGL01595:Gfi1b'
ID 93403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfi1b
Ensembl Gene ENSMUSG00000026815
Gene Name growth factor independent 1B
Synonyms Gfi-1B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01595
Quality Score
Status
Chromosome 2
Chromosomal Location 28499462-28511994 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 28501429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028156] [ENSMUST00000164290]
AlphaFold O70237
Predicted Effect probably null
Transcript: ENSMUST00000028156
SMART Domains Protein: ENSMUSP00000028156
Gene: ENSMUSG00000026815

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: ENSMUST00000104867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155686
Predicted Effect probably null
Transcript: ENSMUST00000164290
SMART Domains Protein: ENSMUSP00000128052
Gene: ENSMUSG00000026815

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,968,181 (GRCm39) M111V probably damaging Het
Adamts14 A T 10: 61,041,252 (GRCm39) H819Q probably damaging Het
Adamts7 T A 9: 90,075,359 (GRCm39) N1072K probably benign Het
Ahnak T A 19: 8,980,865 (GRCm39) Y716* probably null Het
Arfgef3 T C 10: 18,470,660 (GRCm39) K1702E possibly damaging Het
BB014433 C A 8: 15,092,499 (GRCm39) probably null Het
Bdnf A T 2: 109,554,273 (GRCm39) K176* probably null Het
C2cd5 C T 6: 142,963,748 (GRCm39) R879H probably damaging Het
Capn11 T A 17: 45,950,360 (GRCm39) H327L probably benign Het
Ccdc68 A G 18: 70,089,117 (GRCm39) N220S probably benign Het
Cftr T C 6: 18,198,238 (GRCm39) probably benign Het
Clca3a2 G A 3: 144,793,768 (GRCm39) L296F probably damaging Het
Cubn A T 2: 13,330,027 (GRCm39) L2618Q probably benign Het
Gpr37 G T 6: 25,669,572 (GRCm39) T424N probably damaging Het
Kank3 G A 17: 34,038,154 (GRCm39) probably null Het
Kcnh5 T C 12: 74,945,101 (GRCm39) Q716R probably benign Het
Kntc1 G A 5: 123,941,758 (GRCm39) M1817I probably benign Het
Krt79 T G 15: 101,840,206 (GRCm39) E330A probably damaging Het
Mapk15 C A 15: 75,867,129 (GRCm39) P82Q probably benign Het
Myh15 A T 16: 48,993,312 (GRCm39) D1649V probably damaging Het
Myo1d T C 11: 80,566,936 (GRCm39) I326V probably benign Het
Nek9 A T 12: 85,361,194 (GRCm39) W504R probably damaging Het
Nlrp4c T A 7: 6,069,111 (GRCm39) C337* probably null Het
Nup160 A G 2: 90,560,081 (GRCm39) N1269D probably damaging Het
Or52e3 A G 7: 102,869,558 (GRCm39) D211G probably damaging Het
Or56b2 T C 7: 104,337,285 (GRCm39) M21T possibly damaging Het
Or8c10 T C 9: 38,279,346 (GRCm39) V168A probably benign Het
Pde6a A G 18: 61,414,599 (GRCm39) M36V probably damaging Het
Perp A G 10: 18,731,407 (GRCm39) Q122R probably damaging Het
S100a7a T C 3: 90,565,107 (GRCm39) Y101H probably benign Het
Sbk2 C A 7: 4,960,712 (GRCm39) V153L possibly damaging Het
Serpinb7 A T 1: 107,356,052 (GRCm39) N25I probably damaging Het
Tbx5 A T 5: 119,978,903 (GRCm39) D105V probably damaging Het
Trip6 T A 5: 137,311,675 (GRCm39) T101S probably benign Het
Ush2a T A 1: 188,386,921 (GRCm39) probably null Het
Other mutations in Gfi1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Gfi1b APN 2 28,504,797 (GRCm39) nonsense 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
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
Posted On 2013-12-09