Incidental Mutation 'IGL03143:Gata2'
ID 410780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gata2
Ensembl Gene ENSMUSG00000015053
Gene Name GATA binding protein 2
Synonyms Gata-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03143
Quality Score
Status
Chromosome 6
Chromosomal Location 88170873-88184014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88181677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 377 (Y377C)
Ref Sequence ENSEMBL: ENSMUSP00000128198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015197] [ENSMUST00000170089]
AlphaFold O09100
Predicted Effect probably damaging
Transcript: ENSMUST00000015197
AA Change: Y377C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053
AA Change: Y377C

DomainStartEndE-ValueType
low complexity region 103 114 N/A INTRINSIC
low complexity region 143 158 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
ZnF_GATA 289 339 2.37e-19 SMART
ZnF_GATA 343 393 1.26e-23 SMART
low complexity region 399 409 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170089
AA Change: Y377C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053
AA Change: Y377C

DomainStartEndE-ValueType
low complexity region 103 114 N/A INTRINSIC
low complexity region 143 158 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
ZnF_GATA 289 339 2.37e-19 SMART
ZnF_GATA 343 393 1.26e-23 SMART
low complexity region 399 409 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205151
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 member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutant show reduced placental secretion of angiogenic factors, hematopoietic defects, enlarged pericardial sacs, reduced numbers of V2-expressing interneurons of ventral spinal cord, and die by embryonic day 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,738,333 (GRCm39) L236R probably damaging Het
Agbl1 C T 7: 76,069,793 (GRCm39) Q442* probably null Het
Ahrr G A 13: 74,405,614 (GRCm39) Q108* probably null Het
Ankrd23 T C 1: 36,570,726 (GRCm39) probably benign Het
Art5 A G 7: 101,747,104 (GRCm39) I225T probably damaging Het
Asxl3 T C 18: 22,656,031 (GRCm39) V1347A probably benign Het
Birc6 A G 17: 74,905,994 (GRCm39) M1326V possibly damaging Het
Bpifb6 A C 2: 153,744,655 (GRCm39) N32T probably damaging Het
Brip1 T A 11: 85,952,653 (GRCm39) T1043S possibly damaging Het
Cbx5 A T 15: 103,121,532 (GRCm39) V35E probably damaging Het
Ccdc175 T A 12: 72,182,832 (GRCm39) M396L probably benign Het
Ceacam3 G T 7: 16,892,045 (GRCm39) E263* probably null Het
Cyp4a12a A G 4: 115,159,200 (GRCm39) T157A probably benign Het
Dennd11 A T 6: 40,399,828 (GRCm39) probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Dnajb1 T C 8: 84,335,103 (GRCm39) I48T probably damaging Het
Dop1b G A 16: 93,556,543 (GRCm39) E349K probably benign Het
Fkbp10 A T 11: 100,313,580 (GRCm39) I285F probably benign Het
Frrs1 A T 3: 116,692,836 (GRCm39) T37S probably damaging Het
Gm9789 T A 16: 88,954,883 (GRCm39) probably benign Het
Itpkb T A 1: 180,160,933 (GRCm39) V353D probably benign Het
Kcng4 T C 8: 120,352,509 (GRCm39) E467G probably damaging Het
Kdm3a A T 6: 71,573,845 (GRCm39) I906N probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lamc1 A T 1: 153,208,020 (GRCm39) L89Q probably benign Het
Lef1 G T 3: 130,993,965 (GRCm39) E314* probably null Het
Lpin3 T C 2: 160,745,518 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,676 (GRCm39) N452D possibly damaging Het
Naaladl1 C T 19: 6,164,896 (GRCm39) T628I possibly damaging Het
Nell1 C T 7: 49,929,281 (GRCm39) Q259* probably null Het
Neu2 G T 1: 87,524,698 (GRCm39) E228* probably null Het
Or5b119 A T 19: 13,456,835 (GRCm39) H242Q probably damaging Het
Or5k15 A G 16: 58,709,824 (GRCm39) F253S probably damaging Het
Or8g21 T G 9: 38,906,732 (GRCm39) probably benign Het
Or8k20 T C 2: 86,106,580 (GRCm39) N84D probably benign Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Palm T C 10: 79,652,617 (GRCm39) probably benign Het
Parp8 C A 13: 117,047,497 (GRCm39) probably benign Het
Pax7 A G 4: 139,556,798 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,423 (GRCm39) R468W probably damaging Het
Pds5b T A 5: 150,702,722 (GRCm39) V818D probably damaging Het
Piezo2 C T 18: 63,241,147 (GRCm39) V694I probably damaging Het
Plk1 A G 7: 121,760,877 (GRCm39) probably benign Het
Polb T C 8: 23,130,367 (GRCm39) probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Reg3b G A 6: 78,349,183 (GRCm39) W103* probably null Het
Slc17a3 T G 13: 24,039,962 (GRCm39) probably null Het
Snrnp200 C T 2: 127,071,962 (GRCm39) probably benign Het
Stox2 T A 8: 47,646,839 (GRCm39) H207L possibly damaging Het
Tbx15 A C 3: 99,259,514 (GRCm39) M462L possibly damaging Het
Tcirg1 G A 19: 3,948,811 (GRCm39) T458I probably damaging Het
Tnfrsf25 A G 4: 152,201,384 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,155 (GRCm39) K1060E probably damaging Het
Ttc16 T C 2: 32,664,457 (GRCm39) D3G possibly damaging Het
Vmn1r199 A C 13: 22,567,299 (GRCm39) N155H probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Other mutations in Gata2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Gata2 APN 6 88,176,762 (GRCm39) missense probably benign 0.04
IGL02616:Gata2 APN 6 88,182,462 (GRCm39) missense possibly damaging 0.88
IGL02637:Gata2 APN 6 88,181,558 (GRCm39) unclassified probably benign
IGL02705:Gata2 APN 6 88,182,346 (GRCm39) missense possibly damaging 0.49
R1222:Gata2 UTSW 6 88,177,323 (GRCm39) missense probably benign 0.31
R1769:Gata2 UTSW 6 88,182,237 (GRCm39) missense probably benign
R3921:Gata2 UTSW 6 88,182,464 (GRCm39) makesense probably null
R4151:Gata2 UTSW 6 88,176,620 (GRCm39) missense probably damaging 1.00
R5834:Gata2 UTSW 6 88,177,729 (GRCm39) missense probably benign 0.04
R5875:Gata2 UTSW 6 88,179,473 (GRCm39) missense probably damaging 1.00
R5888:Gata2 UTSW 6 88,177,722 (GRCm39) missense probably benign 0.00
R6236:Gata2 UTSW 6 88,179,548 (GRCm39) critical splice donor site probably null
R7605:Gata2 UTSW 6 88,177,390 (GRCm39) missense possibly damaging 0.89
R8752:Gata2 UTSW 6 88,177,513 (GRCm39) missense possibly damaging 0.90
R9469:Gata2 UTSW 6 88,182,301 (GRCm39) missense possibly damaging 0.68
R9649:Gata2 UTSW 6 88,179,505 (GRCm39) missense probably damaging 1.00
R9789:Gata2 UTSW 6 88,177,272 (GRCm39) missense probably benign 0.03
X0026:Gata2 UTSW 6 88,181,594 (GRCm39) nonsense probably null
Posted On 2016-08-02