Incidental Mutation 'IGL02558:Gata2'
ID298385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gata2
Ensembl Gene ENSMUSG00000015053
Gene NameGATA binding protein 2
SynonymsGata-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02558
Quality Score
Status
Chromosome6
Chromosomal Location88193891-88207032 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 88199780 bp
ZygosityHeterozygous
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]
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: 3,582,194 *25C probably null Het
Abca13 T C 11: 9,399,387 Y3654H probably damaging Het
Ankle1 T C 8: 71,408,992 F438S probably damaging Het
Atp10a A T 7: 58,819,642 R1080S probably damaging Het
Ccdc51 A T 9: 109,092,184 N380Y probably damaging Het
Ccr8 A T 9: 120,094,658 I280F probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep162 G T 9: 87,225,726 T537N probably benign Het
Cep162 T C 9: 87,225,733 T535A probably benign Het
Cfap52 T C 11: 67,954,138 D35G probably benign Het
Cmip G A 8: 117,449,088 S530N probably damaging Het
Col9a3 A T 2: 180,606,806 probably null Het
Csf3r T C 4: 126,038,135 probably benign Het
Csk C T 9: 57,630,263 E123K probably benign Het
Csrnp3 G A 2: 66,022,229 E322K probably damaging Het
Ddx11 A T 17: 66,148,672 I663F probably damaging Het
Dnah1 T A 14: 31,274,379 M2667L possibly damaging Het
Foxred1 T C 9: 35,210,133 K40E probably damaging Het
Gdf10 T G 14: 33,923,980 C29G probably benign Het
Hectd4 A G 5: 121,344,785 E3133G probably benign Het
Ints8 G A 4: 11,218,771 R784W probably damaging Het
Lrriq1 T C 10: 103,146,283 E1392G probably damaging Het
Muc19 T C 15: 91,897,622 noncoding transcript Het
Myom2 A T 8: 15,114,237 D1044V probably benign Het
Nphp4 G T 4: 152,555,531 R958L probably damaging Het
Nup205 C T 6: 35,189,924 P293S probably damaging Het
Olfr1130 T C 2: 87,607,559 I57T probably benign Het
Olfr23 A T 11: 73,940,825 H193L probably benign Het
Plxdc2 A G 2: 16,669,598 probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Siglec1 G T 2: 131,074,995 S1113R possibly damaging Het
Sirpa A G 2: 129,630,069 E472G probably damaging Het
Slc39a4 G T 15: 76,614,203 L345M probably damaging Het
Snx27 C T 3: 94,502,881 R496Q probably damaging Het
Stard9 A G 2: 120,696,907 H1215R possibly damaging Het
Stau1 A G 2: 166,950,848 Y371H probably benign Het
Sult2a1 A C 7: 13,832,595 W152G probably benign Het
Syt16 A T 12: 74,235,058 K319* probably null Het
Tcf7 T A 11: 52,253,970 probably benign Het
Tfdp1 A G 8: 13,369,546 N92D possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Gata2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Gata2 APN 6 88205480 missense possibly damaging 0.88
IGL02637:Gata2 APN 6 88204576 unclassified probably benign
IGL02705:Gata2 APN 6 88205364 missense possibly damaging 0.49
IGL03143:Gata2 APN 6 88204695 missense probably damaging 1.00
R1222:Gata2 UTSW 6 88200341 missense probably benign 0.31
R1769:Gata2 UTSW 6 88205255 missense probably benign
R3921:Gata2 UTSW 6 88205482 makesense probably null
R4151:Gata2 UTSW 6 88199638 missense probably damaging 1.00
R5834:Gata2 UTSW 6 88200747 missense probably benign 0.04
R5875:Gata2 UTSW 6 88202491 missense probably damaging 1.00
R5888:Gata2 UTSW 6 88200740 missense probably benign 0.00
R6236:Gata2 UTSW 6 88202566 critical splice donor site probably null
R7605:Gata2 UTSW 6 88200408 missense possibly damaging 0.89
X0026:Gata2 UTSW 6 88204612 nonsense probably null
Posted On2015-04-16