Incidental Mutation 'IGL02558:Gata2'
ID 298385
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 # IGL02558
Quality Score
Status
Chromosome 6
Chromosomal Location 88170873-88184014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88176762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 74 (P74S)
Ref Sequence ENSEMBL: ENSMUSP00000128198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015197] [ENSMUST00000170089] [ENSMUST00000203480]
AlphaFold O09100
Predicted Effect probably benign
Transcript: ENSMUST00000015197
AA Change: P74S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053
AA Change: P74S

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
AA Change: P74S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053
AA Change: P74S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,632,194 (GRCm39) *25C probably null Het
Abca13 T C 11: 9,349,387 (GRCm39) Y3654H probably damaging Het
Ankle1 T C 8: 71,861,636 (GRCm39) F438S probably damaging Het
Atp10a A T 7: 58,469,390 (GRCm39) R1080S probably damaging Het
Ccdc51 A T 9: 108,921,252 (GRCm39) N380Y probably damaging Het
Ccr8 A T 9: 119,923,724 (GRCm39) I280F probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep162 T C 9: 87,107,786 (GRCm39) T535A probably benign Het
Cep162 G T 9: 87,107,779 (GRCm39) T537N probably benign Het
Cfap52 T C 11: 67,844,964 (GRCm39) D35G probably benign Het
Cmip G A 8: 118,175,827 (GRCm39) S530N probably damaging Het
Col9a3 A T 2: 180,248,599 (GRCm39) probably null Het
Csf3r T C 4: 125,931,928 (GRCm39) probably benign Het
Csk C T 9: 57,537,546 (GRCm39) E123K probably benign Het
Csrnp3 G A 2: 65,852,573 (GRCm39) E322K probably damaging Het
Ddx11 A T 17: 66,455,667 (GRCm39) I663F probably damaging Het
Dnah1 T A 14: 30,996,336 (GRCm39) M2667L possibly damaging Het
Foxred1 T C 9: 35,121,429 (GRCm39) K40E probably damaging Het
Gdf10 T G 14: 33,645,937 (GRCm39) C29G probably benign Het
Hectd4 A G 5: 121,482,848 (GRCm39) E3133G probably benign Het
Ints8 G A 4: 11,218,771 (GRCm39) R784W probably damaging Het
Lrriq1 T C 10: 102,982,144 (GRCm39) E1392G probably damaging Het
Muc19 T C 15: 91,781,816 (GRCm39) noncoding transcript Het
Myom2 A T 8: 15,164,237 (GRCm39) D1044V probably benign Het
Nphp4 G T 4: 152,639,988 (GRCm39) R958L probably damaging Het
Nup205 C T 6: 35,166,859 (GRCm39) P293S probably damaging Het
Or10ag60 T C 2: 87,437,903 (GRCm39) I57T probably benign Het
Or1e17 A T 11: 73,831,651 (GRCm39) H193L probably benign Het
Plxdc2 A G 2: 16,674,409 (GRCm39) probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Siglec1 G T 2: 130,916,915 (GRCm39) S1113R possibly damaging Het
Sirpa A G 2: 129,471,989 (GRCm39) E472G probably damaging Het
Slc39a4 G T 15: 76,498,403 (GRCm39) L345M probably damaging Het
Snx27 C T 3: 94,410,188 (GRCm39) R496Q probably damaging Het
Stard9 A G 2: 120,527,388 (GRCm39) H1215R possibly damaging Het
Stau1 A G 2: 166,792,768 (GRCm39) Y371H probably benign Het
Sult2a1 A C 7: 13,566,520 (GRCm39) W152G probably benign Het
Syt16 A T 12: 74,281,832 (GRCm39) K319* probably null Het
Tcf7 T A 11: 52,144,797 (GRCm39) probably benign Het
Tfdp1 A G 8: 13,419,546 (GRCm39) N92D possibly damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Gata2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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