Incidental Mutation 'IGL02637:Gata2'
ID 301586
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 # IGL02637
Quality Score
Status
Chromosome 6
Chromosomal Location 88170873-88184014 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 88181558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015197] [ENSMUST00000170089] [ENSMUST00000203480]
AlphaFold O09100
Predicted Effect probably benign
Transcript: ENSMUST00000015197
SMART Domains Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053

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 benign
Transcript: ENSMUST00000170089
SMART Domains Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053

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 benign
Transcript: ENSMUST00000203480
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,309,907 (GRCm39) Y435C probably damaging Het
Adgrb1 C T 15: 74,460,143 (GRCm39) probably benign Het
Ampd1 T C 3: 103,002,199 (GRCm39) probably benign Het
Camk1g G A 1: 193,030,696 (GRCm39) P338S probably benign Het
Cog3 T C 14: 75,959,636 (GRCm39) probably benign Het
Crat A G 2: 30,296,401 (GRCm39) V355A probably benign Het
Ctla2a T A 13: 61,083,899 (GRCm39) probably benign Het
Dnaaf9 C A 2: 130,656,227 (GRCm39) probably benign Het
Efhb A G 17: 53,756,580 (GRCm39) I357T probably benign Het
Fh1 T C 1: 175,437,332 (GRCm39) M256V probably benign Het
Gabrg3 A G 7: 56,384,775 (GRCm39) I262T probably damaging Het
Gm6356 A G 14: 6,970,926 (GRCm38) V178A possibly damaging Het
Hacl1 T C 14: 31,362,458 (GRCm39) E63G probably damaging Het
Hid1 A T 11: 115,241,421 (GRCm39) I623N probably damaging Het
Hivep2 A G 10: 14,006,452 (GRCm39) K1017E possibly damaging Het
Ifi208 C T 1: 173,506,508 (GRCm39) T97I probably benign Het
Ighg1 T C 12: 113,293,132 (GRCm39) H186R unknown Het
Igkv8-26 T C 6: 70,170,642 (GRCm39) S78P probably damaging Het
Itih3 T C 14: 30,637,617 (GRCm39) N514S probably benign Het
Kcnj16 A T 11: 110,916,439 (GRCm39) D367V probably benign Het
Klhl23 A T 2: 69,659,258 (GRCm39) R428* probably null Het
Lgmn T C 12: 102,366,485 (GRCm39) E216G probably damaging Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp5 C T 19: 3,680,269 (GRCm39) G405D probably benign Het
Lrrc74a C T 12: 86,788,521 (GRCm39) R53* probably null Het
Lsm12 G A 11: 102,054,948 (GRCm39) R123C probably benign Het
Marchf5 T A 19: 37,198,033 (GRCm39) probably benign Het
Mark3 C A 12: 111,559,090 (GRCm39) A44D probably damaging Het
Mndal T A 1: 173,685,003 (GRCm39) N522I possibly damaging Het
Nbeal2 G T 9: 110,455,045 (GRCm39) R2611S possibly damaging Het
Nlrp4d T C 7: 10,116,482 (GRCm39) noncoding transcript Het
Npnt T A 3: 132,590,271 (GRCm39) I507F possibly damaging Het
Or51a7 G A 7: 102,622,250 (GRCm39) probably benign Het
Pde4a T A 9: 21,112,628 (GRCm39) L91Q probably damaging Het
Pdzd2 C T 15: 12,385,720 (GRCm39) V1017M probably benign Het
Pkhd1l1 A G 15: 44,427,720 (GRCm39) N3259S probably damaging Het
Plxnb2 A T 15: 89,048,260 (GRCm39) H683Q possibly damaging Het
Reck T A 4: 43,898,009 (GRCm39) S96T probably damaging Het
Rnf135 A G 11: 80,089,704 (GRCm39) K347E probably benign Het
Ro60 A G 1: 143,646,526 (GRCm39) V73A probably damaging Het
Rxfp2 A G 5: 149,979,378 (GRCm39) D246G probably damaging Het
Sdk1 C T 5: 142,080,327 (GRCm39) T1273I probably damaging Het
Slc12a8 A T 16: 33,355,330 (GRCm39) M49L probably benign Het
Slc5a11 A T 7: 122,859,728 (GRCm39) probably null Het
Surf2 A G 2: 26,809,790 (GRCm39) K247E probably damaging Het
Sys1 G A 2: 164,303,312 (GRCm39) V9M possibly damaging Het
Tcf4 G A 18: 69,480,421 (GRCm39) D18N probably damaging Het
Tmc6 A T 11: 117,658,416 (GRCm39) V773D possibly damaging Het
Trappc13 T C 13: 104,286,570 (GRCm39) Q229R probably benign Het
Xkr5 T C 8: 18,984,099 (GRCm39) E481G probably benign Het
Xpo5 C A 17: 46,546,905 (GRCm39) D885E probably damaging 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
IGL02705:Gata2 APN 6 88,182,346 (GRCm39) missense possibly damaging 0.49
IGL03143:Gata2 APN 6 88,181,677 (GRCm39) missense probably damaging 1.00
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 2015-04-16