Incidental Mutation 'R2311:Gfi1b'
ID 245325
Institutional Source Beutler Lab
Gene Symbol Gfi1b
Ensembl Gene ENSMUSG00000026815
Gene Name growth factor independent 1B
Synonyms Gfi-1B
MMRRC Submission 040310-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2311 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 28499462-28511994 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28500186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 282 (G282R)
Ref Sequence ENSEMBL: ENSMUSP00000028156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028156] [ENSMUST00000164290]
AlphaFold O70237
Predicted Effect probably damaging
Transcript: ENSMUST00000028156
AA Change: G282R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028156
Gene: ENSMUSG00000026815
AA Change: G282R

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 damaging
Transcript: ENSMUST00000164290
AA Change: G315R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128052
Gene: ENSMUSG00000026815
AA Change: G315R

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
Meta Mutation Damage Score 0.4199 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e G A 15: 77,602,236 (GRCm39) R278H probably benign Het
Arhgef17 A G 7: 100,578,111 (GRCm39) S946P probably benign Het
Capsl A T 15: 9,462,689 (GRCm39) R110* probably null Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dock8 T A 19: 25,160,368 (GRCm39) I1757N possibly damaging Het
Dthd1 T C 5: 62,996,580 (GRCm39) probably benign Het
Eif5a2 A G 3: 28,836,325 (GRCm39) E42G possibly damaging Het
Elovl3 A G 19: 46,121,639 (GRCm39) S61G probably benign Het
Elp4 T C 2: 105,672,677 (GRCm39) N136S probably benign Het
Elp6 A G 9: 110,149,886 (GRCm39) S223G probably benign Het
Eml1 T A 12: 108,503,675 (GRCm39) D743E probably damaging Het
Ezh2 T C 6: 47,535,194 (GRCm39) Q85R probably damaging Het
Fermt3 C A 19: 6,991,530 (GRCm39) C194F probably damaging Het
Flg A G 3: 93,200,260 (GRCm39) probably benign Het
Gpr176 A T 2: 118,109,927 (GRCm39) I444K probably benign Het
Gvin-ps3 T C 7: 105,682,797 (GRCm39) K153E probably damaging Het
Gys2 A T 6: 142,408,970 (GRCm39) M95K possibly damaging Het
Hgs C T 11: 120,370,474 (GRCm39) R167W probably damaging Het
Map3k20 T C 2: 72,198,784 (GRCm39) I130T probably damaging Het
Nckap5 A T 1: 126,456,489 (GRCm39) Y25N probably damaging Het
Npc1 C T 18: 12,335,240 (GRCm39) V629I probably benign Het
Nrl C A 14: 55,759,909 (GRCm39) S6I probably damaging Het
Or10am5 A T 7: 6,517,741 (GRCm39) M229K probably benign Het
Or4c29 T A 2: 88,739,813 (GRCm39) D308V probably benign Het
Or5d37 T C 2: 87,924,178 (GRCm39) N34S probably benign Het
Oxct2b T C 4: 123,011,211 (GRCm39) F377S probably damaging Het
Plb1 T C 5: 32,427,162 (GRCm39) S91P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Postn A T 3: 54,292,644 (GRCm39) Y737F probably damaging Het
Serpina1e T A 12: 103,917,388 (GRCm39) I94F possibly damaging Het
Serpine2 A G 1: 79,788,265 (GRCm39) probably benign Het
Stox2 T C 8: 47,645,013 (GRCm39) R816G probably damaging Het
Tep1 T C 14: 51,071,024 (GRCm39) N2092D possibly damaging Het
Tmem186 A G 16: 8,453,748 (GRCm39) V171A probably benign Het
Trim58 G A 11: 58,533,934 (GRCm39) V163M probably benign Het
Trim59 G T 3: 68,945,162 (GRCm39) C59* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vill A G 9: 118,894,965 (GRCm39) N61S probably benign Het
Zer1 C T 2: 29,991,834 (GRCm39) R662H probably damaging Het
Zfp644 A C 5: 106,782,822 (GRCm39) V1184G probably benign Het
Zfp974 A G 7: 27,609,866 (GRCm39) S620P possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTCAGGCGAGACACACTAAAGC -3'
(R):5'- TGAACTCAGAGATCCATCTGCC -3'

Sequencing Primer
(F):5'- CACTAAAGCAGGCGGCC -3'
(R):5'- TCTGTCTCCCAAGGGCTG -3'
Posted On 2014-10-30