Incidental Mutation 'IGL00502:Gfi1b'
ID 7249
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 # IGL00502
Quality Score
Status
Chromosome 2
Chromosomal Location 28499462-28511994 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 28504797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 70 (Q70*)
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: Q70*
SMART Domains Protein: ENSMUSP00000028156
Gene: ENSMUSG00000026815
AA Change: Q70*

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: Q70*
SMART Domains Protein: ENSMUSP00000128052
Gene: ENSMUSG00000026815
AA Change: Q70*

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,301,278 (GRCm39) I82N probably damaging Het
Ampd2 A T 3: 107,984,712 (GRCm39) L422H probably damaging Het
Angptl2 T A 2: 33,118,406 (GRCm39) V60E probably damaging Het
Ano3 G A 2: 110,601,395 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,373,078 (GRCm39) D112G probably benign Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Btrc A T 19: 45,515,704 (GRCm39) E553V probably damaging Het
Cacna1b A T 2: 24,541,212 (GRCm39) Y1323* probably null Het
Ccdc146 A G 5: 21,506,420 (GRCm39) C674R possibly damaging Het
Ccdc170 A G 10: 4,496,836 (GRCm39) D458G probably damaging Het
Cfap57 T A 4: 118,438,198 (GRCm39) M898L probably benign Het
Crybg1 C T 10: 43,834,309 (GRCm39) V1961I probably damaging Het
Dsp T C 13: 38,381,822 (GRCm39) S2257P probably damaging Het
Dytn A G 1: 63,717,999 (GRCm39) V12A probably benign Het
Foxk2 A G 11: 121,187,925 (GRCm39) probably benign Het
Galnt2l T C 8: 125,054,837 (GRCm39) M204T probably damaging Het
Gsdmc T C 15: 63,676,270 (GRCm39) T58A probably benign Het
Hikeshi G A 7: 89,572,818 (GRCm39) T26I probably benign Het
Mpdz T C 4: 81,287,960 (GRCm39) D433G probably damaging Het
Ndufb5 T A 3: 32,799,048 (GRCm39) V55D probably damaging Het
Nostrin T C 2: 69,014,336 (GRCm39) S431P probably benign Het
Pdcd1lg2 A T 19: 29,423,462 (GRCm39) T169S possibly damaging Het
Plekha7 A T 7: 115,734,419 (GRCm39) M1006K probably damaging Het
Rgs6 A T 12: 83,098,097 (GRCm39) I94F probably benign Het
Rims2 A T 15: 39,370,380 (GRCm39) D938V probably damaging Het
Slc4a8 A G 15: 100,705,319 (GRCm39) T842A possibly damaging Het
Spata21 C A 4: 140,838,675 (GRCm39) probably null Het
Stk32a C T 18: 43,443,510 (GRCm39) T229I possibly damaging Het
Tent4b C T 8: 88,978,886 (GRCm39) Q63* probably null Het
Trim33 C T 3: 103,237,498 (GRCm39) P185S probably benign Het
Tspoap1 A G 11: 87,668,647 (GRCm39) probably null Het
Vcan A G 13: 89,840,438 (GRCm39) V742A probably benign Het
Vrtn A T 12: 84,695,837 (GRCm39) I196F probably benign Het
Wasf1 A T 10: 40,796,293 (GRCm39) I8F probably damaging Het
Ythdc2 A G 18: 44,980,879 (GRCm39) I491M probably damaging Het
Zfp292 T C 4: 34,809,775 (GRCm39) T1095A possibly damaging Het
Other mutations in Gfi1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20