Incidental Mutation 'R7900:Gata3'
ID 609927
Institutional Source Beutler Lab
Gene Symbol Gata3
Ensembl Gene ENSMUSG00000015619
Gene Name GATA binding protein 3
Synonyms jal, Gata-3
MMRRC Submission 045952-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7900 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 9861889-9894845 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9863461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 351 (N351I)
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: N351I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: N351I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamtsl5 A G 10: 80,177,735 (GRCm39) F309S probably damaging Het
Ankle1 C T 8: 71,860,061 (GRCm39) T213I probably damaging Het
C4b A G 17: 34,958,751 (GRCm39) S528P probably benign Het
Camk2a A G 18: 61,090,438 (GRCm39) Y222C probably damaging Het
Cnst A G 1: 179,450,453 (GRCm39) D639G probably damaging Het
Ctbp2 A C 7: 132,616,328 (GRCm39) S202R probably benign Het
Cwf19l2 G T 9: 3,460,107 (GRCm39) L798F probably damaging Het
Cyp11a1 T A 9: 57,923,667 (GRCm39) V124E possibly damaging Het
Ddx3y C T Y: 1,266,594 (GRCm39) probably null Het
Dlst G T 12: 85,177,292 (GRCm39) R346L probably benign Het
Dnah2 A G 11: 69,409,254 (GRCm39) S375P probably damaging Het
Dnm3 T A 1: 162,182,940 (GRCm39) Y125F probably benign Het
Dock9 C T 14: 121,783,491 (GRCm39) A2011T possibly damaging Het
Efr3a T A 15: 65,719,984 (GRCm39) probably null Het
Egln1 A T 8: 125,640,879 (GRCm39) I319N possibly damaging Het
Gjd3 T C 11: 102,690,920 (GRCm39) N361S probably benign Het
Gpcpd1 T C 2: 132,376,659 (GRCm39) T546A probably damaging Het
Gpihbp1 T C 15: 75,469,791 (GRCm39) F169L probably benign Het
Gpnmb A T 6: 49,027,400 (GRCm39) I375L possibly damaging Het
Itpka A T 2: 119,580,994 (GRCm39) T381S probably benign Het
Lhx4 T C 1: 155,617,709 (GRCm39) probably benign Het
Lrguk T C 6: 34,106,129 (GRCm39) L718P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nr1d1 T A 11: 98,660,537 (GRCm39) T477S probably benign Het
Nxnl1 A T 8: 72,019,170 (GRCm39) D18E probably damaging Het
Onecut2 G T 18: 64,474,658 (GRCm39) R403L probably damaging Het
Or51v14 T C 7: 103,260,900 (GRCm39) Y220C possibly damaging Het
Or5an1 T A 19: 12,260,705 (GRCm39) C98S probably damaging Het
Pla2r1 T C 2: 60,258,858 (GRCm39) T1177A possibly damaging Het
Prkd2 T C 7: 16,587,269 (GRCm39) V405A probably benign Het
Ranbp1 T C 16: 18,063,161 (GRCm39) T72A probably damaging Het
Retnla A C 16: 48,663,977 (GRCm39) R90S probably benign Het
Sec31b A T 19: 44,514,669 (GRCm39) I385N probably damaging Het
Slc6a19 C T 13: 73,848,583 (GRCm39) R57H probably damaging Het
Smurf1 T C 5: 144,836,183 (GRCm39) D110G probably damaging Het
Specc1 A G 11: 62,110,187 (GRCm39) Y975C probably damaging Het
Tas2r136 T A 6: 132,754,599 (GRCm39) N176I possibly damaging Het
Tecrl A C 5: 83,427,188 (GRCm39) V320G probably benign Het
Tmem245 A G 4: 56,924,973 (GRCm39) probably null Het
Tpd52l1 T A 10: 31,214,178 (GRCm39) probably null Het
Trbv2 A G 6: 41,024,908 (GRCm39) Y108C probably damaging Het
Trpm7 T C 2: 126,639,418 (GRCm39) M1689V probably benign Het
Usp24 A G 4: 106,266,597 (GRCm39) Y1855C probably damaging Het
Usp9y A T Y: 1,384,354 (GRCm39) S721R possibly damaging Het
Vwf G A 6: 125,605,439 (GRCm39) probably null Het
Washc4 T A 10: 83,409,637 (GRCm39) probably null Het
Yeats4 G A 10: 117,056,464 (GRCm39) H71Y possibly damaging Het
Zbtb38 A C 9: 96,570,989 (GRCm39) L32V probably damaging Het
Zfy1 T C Y: 725,519 (GRCm39) T749A possibly 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
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
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'- AGATGTGGCTCAGGGATGAC -3'
(R):5'- CCCCTGTTGATGAGTTTAGCTG -3'

Sequencing Primer
(F):5'- GCTCAGGGATGACATGTGTC -3'
(R):5'- GCTACTGTGCAAAAGCT -3'
Posted On 2019-12-20