Incidental Mutation 'R6696:Gata3'
ID 528566
Institutional Source Beutler Lab
Gene Symbol Gata3
Ensembl Gene ENSMUSG00000015619
Gene Name GATA binding protein 3
Synonyms jal, Gata-3
MMRRC Submission 044814-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6696 (G1)
Quality Score 220.009
Status Validated
Chromosome 2
Chromosomal Location 9861889-9894845 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 9879303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 224 (Y224*)
Ref Sequence ENSEMBL: ENSMUSP00000100041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102976] [ENSMUST00000130615]
AlphaFold P23772
PDB Structure Adjacent GATA DNA binding [X-RAY DIFFRACTION]
Opposite GATA DNA binding [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000102976
AA Change: Y224*
SMART Domains Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: Y224*

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 probably benign
Transcript: ENSMUST00000130615
SMART Domains Protein: ENSMUSP00000119730
Gene: ENSMUSG00000015619

DomainStartEndE-ValueType
low complexity region 93 114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153509
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G T 6: 87,442,633 (GRCm39) H350Q probably damaging Het
Arhgap25 C A 6: 87,443,545 (GRCm39) V305F probably damaging Het
Atg3 A T 16: 44,995,644 (GRCm39) I126F possibly damaging Het
Best2 A T 8: 85,737,873 (GRCm39) L174* probably null Het
Ccdc134 T A 15: 82,015,722 (GRCm39) D67E probably damaging Het
Coasy G T 11: 100,973,927 (GRCm39) R31L possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dhrs7l C T 12: 72,666,255 (GRCm39) A139T possibly damaging Het
Eipr1 C A 12: 28,909,357 (GRCm39) T208N probably benign Het
Epha2 A G 4: 141,048,850 (GRCm39) T606A probably benign Het
Fan1 A T 7: 63,999,826 (GRCm39) I853N probably damaging Het
Fbxw18 A C 9: 109,517,832 (GRCm39) S385A probably benign Het
Galnt11 T C 5: 25,460,112 (GRCm39) V307A probably benign Het
Gm527 T C 12: 64,967,866 (GRCm39) M96T possibly damaging Het
Hivep2 T C 10: 14,009,503 (GRCm39) F1720S probably benign Het
Hltf T G 3: 20,119,470 (GRCm39) probably null Het
Imp4 T C 1: 34,483,327 (GRCm39) V247A probably benign Het
Iqca1 G A 1: 90,057,922 (GRCm39) T259I probably benign Het
Klra6 A G 6: 129,993,696 (GRCm39) F192L probably benign Het
Lnp1 T C 16: 56,748,149 (GRCm39) K48E possibly damaging Het
Lrp4 A G 2: 91,327,690 (GRCm39) D1513G probably benign Het
Lrrc25 G A 8: 71,071,015 (GRCm39) probably null Het
Macf1 T A 4: 123,403,596 (GRCm39) Y590F probably damaging Het
Mms19 C A 19: 41,942,452 (GRCm39) V359L probably benign Het
Mns1 G A 9: 72,360,044 (GRCm39) R398Q probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nme3 G T 17: 25,116,268 (GRCm39) C158F possibly damaging Het
Pam T A 1: 97,813,452 (GRCm39) H326L possibly damaging Het
Plcxd1 A G 5: 110,249,751 (GRCm39) N151S possibly damaging Het
Prep A T 10: 45,029,174 (GRCm39) N525Y probably damaging Het
Rab11fip5 T C 6: 85,318,928 (GRCm39) I654V possibly damaging Het
Sbf2 T A 7: 110,159,505 (GRCm39) Q35L probably benign Het
Shcbp1 A G 8: 4,789,262 (GRCm39) F519S probably damaging Het
Slc18a3 T C 14: 32,186,270 (GRCm39) I38V possibly damaging Het
Slc5a2 A T 7: 127,869,215 (GRCm39) I332F probably damaging Het
Slc7a7 C T 14: 54,615,218 (GRCm39) probably null Het
Srbd1 C T 17: 86,446,619 (GRCm39) V47I possibly damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tgfbr3 C T 5: 107,284,796 (GRCm39) V618I probably benign Het
Tmem191 C T 16: 17,100,886 (GRCm39) probably null Het
Tmem67 C A 4: 12,061,754 (GRCm39) probably null Het
Tmem94 C T 11: 115,682,814 (GRCm39) A617V probably damaging Het
Vmn1r71 T A 7: 10,482,401 (GRCm39) I96F probably damaging Het
Vmn2r7 A T 3: 64,614,495 (GRCm39) F440I probably benign Het
Wdr7 A G 18: 63,872,401 (GRCm39) Q445R probably benign Het
Wnk1 A G 6: 119,925,243 (GRCm39) L1407P probably damaging Het
Other mutations in Gata3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Gata3 APN 2 9,882,276 (GRCm39) missense probably damaging 1.00
IGL03168:Gata3 APN 2 9,873,625 (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
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
Predicted Primers PCR Primer
(F):5'- GCCCTGACCTGGATATAGCG -3'
(R):5'- TCAGCCCCTTCTCCAAGACG -3'

Sequencing Primer
(F):5'- CCTGACCTGGATATAGCGCAAATAG -3'
(R):5'- GGGGCCTCTGTCCGTTTAC -3'
Posted On 2018-07-24