Incidental Mutation 'IGL03168:Gata3'
ID 411724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gata3
Ensembl Gene ENSMUSG00000015619
Gene Name GATA binding protein 3
Synonyms jal, Gata-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03168
Quality Score
Status
Chromosome 2
Chromosomal Location 9861889-9894845 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9873625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 290 (Y290H)
Ref Sequence ENSEMBL: ENSMUSP00000100041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102976]
AlphaFold P23772
PDB Structure Adjacent GATA DNA binding [X-RAY DIFFRACTION]
Opposite GATA DNA binding [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000102976
AA Change: Y290H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: Y290H

DomainStartEndE-ValueType
low complexity region 128 149 N/A INTRINSIC
low complexity region 153 165 N/A INTRINSIC
low complexity region 229 247 N/A INTRINSIC
ZnF_GATA 257 307 3.65e-20 SMART
ZnF_GATA 311 361 2.9e-23 SMART
low complexity region 367 377 N/A INTRINSIC
low complexity region 399 425 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151456
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 protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Calhm4 C T 10: 33,917,552 (GRCm39) V300I probably benign Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Jhy A T 9: 40,828,848 (GRCm39) S353T possibly damaging Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Ksr2 T C 5: 117,886,846 (GRCm39) F794S probably damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rap1a A G 3: 105,657,587 (GRCm39) S11P probably damaging Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Tpr A G 1: 150,284,508 (GRCm39) I324M probably benign Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Other mutations in Gata3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Gata3 APN 2 9,882,276 (GRCm39) missense probably damaging 1.00
R0054:Gata3 UTSW 2 9,863,258 (GRCm39) missense probably damaging 1.00
R0123:Gata3 UTSW 2 9,879,620 (GRCm39) missense probably benign 0.11
R0225:Gata3 UTSW 2 9,879,620 (GRCm39) missense probably benign 0.11
R0724:Gata3 UTSW 2 9,879,386 (GRCm39) missense probably benign
R1491:Gata3 UTSW 2 9,882,201 (GRCm39) missense probably damaging 0.96
R1576:Gata3 UTSW 2 9,868,007 (GRCm39) missense probably damaging 0.98
R1608:Gata3 UTSW 2 9,879,579 (GRCm39) nonsense probably null
R1667:Gata3 UTSW 2 9,882,360 (GRCm39) missense possibly damaging 0.95
R3119:Gata3 UTSW 2 9,882,396 (GRCm39) critical splice acceptor site probably null
R3753:Gata3 UTSW 2 9,873,651 (GRCm39) missense probably benign 0.39
R3876:Gata3 UTSW 2 9,867,954 (GRCm39) missense probably damaging 1.00
R5040:Gata3 UTSW 2 9,863,326 (GRCm39) missense probably damaging 1.00
R5292:Gata3 UTSW 2 9,873,685 (GRCm39) missense probably damaging 1.00
R6414:Gata3 UTSW 2 9,863,245 (GRCm39) missense possibly damaging 0.95
R6696:Gata3 UTSW 2 9,879,303 (GRCm39) nonsense probably null
R6848:Gata3 UTSW 2 9,863,339 (GRCm39) missense possibly damaging 0.88
R7580:Gata3 UTSW 2 9,867,943 (GRCm39) missense probably damaging 1.00
R7900:Gata3 UTSW 2 9,863,461 (GRCm39) missense probably damaging 1.00
R8551:Gata3 UTSW 2 9,867,994 (GRCm39) missense probably damaging 1.00
R9602:Gata3 UTSW 2 9,863,297 (GRCm39) missense possibly damaging 0.86
R9775:Gata3 UTSW 2 9,863,197 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02