Incidental Mutation 'R8551:Gata3'
ID 659850
Institutional Source Beutler Lab
Gene Symbol Gata3
Ensembl Gene ENSMUSG00000015619
Gene Name GATA binding protein 3
Synonyms jal, Gata-3
MMRRC Submission 068516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8551 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 9861889-9894845 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9867994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 320 (C320F)
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: C320F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100041
Gene: ENSMUSG00000015619
AA Change: C320F

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
Meta Mutation Damage Score 0.9700 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (39/40)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 G A 7: 82,189,678 (GRCm39) R634H probably benign Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
Dnah12 T A 14: 26,496,227 (GRCm39) I1493K probably damaging Het
Dnah7b T C 1: 46,155,360 (GRCm39) S303P possibly damaging Het
Eri2 A T 7: 119,387,062 (GRCm39) probably null Het
Erlec1 C A 11: 30,881,829 (GRCm39) C467F probably damaging Het
Exph5 A G 9: 53,285,351 (GRCm39) T811A possibly damaging Het
Galr1 T A 18: 82,424,191 (GRCm39) I29F probably benign Het
Ggnbp2 A T 11: 84,732,351 (GRCm39) Y247* probably null Het
Gnao1 A G 8: 94,682,735 (GRCm39) Q307R probably damaging Het
Hbp1 T C 12: 31,980,709 (GRCm39) T465A probably damaging Het
Liph C G 16: 21,800,158 (GRCm39) G152R probably damaging Het
Lrguk T C 6: 34,093,446 (GRCm39) S656P probably damaging Het
Lyrm4 T A 13: 36,163,844 (GRCm39) N85I probably benign Het
Lyst T A 13: 13,808,645 (GRCm39) I105N possibly damaging Het
Maml3 T C 3: 51,764,488 (GRCm39) T159A probably benign Het
Man1c1 A T 4: 134,430,326 (GRCm39) L152* probably null Het
Map3k20 T G 2: 72,232,704 (GRCm39) probably benign Het
Mthfsl G T 9: 88,570,943 (GRCm39) R102S possibly damaging Het
Myo3a T A 2: 22,337,277 (GRCm39) S391R probably benign Het
Naa50 A G 16: 43,979,996 (GRCm39) D128G probably benign Het
Nlrp14 C T 7: 106,782,359 (GRCm39) R519C possibly damaging Het
Or5b119 A G 19: 13,457,109 (GRCm39) I151T possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Oxtr T C 6: 112,465,939 (GRCm39) K274E probably damaging Het
Prkn A G 17: 11,286,103 (GRCm39) K32R probably damaging Het
Relt T C 7: 100,512,409 (GRCm39) probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Ryr2 T A 13: 11,575,479 (GRCm39) I4840F possibly damaging Het
Sccpdh T A 1: 179,509,013 (GRCm39) Y27N probably damaging Het
Slc7a5 A G 8: 122,613,050 (GRCm39) S343P probably damaging Het
Snrnp200 A G 2: 127,068,971 (GRCm39) D950G probably benign Het
Stk38 A G 17: 29,207,199 (GRCm39) Y115H probably damaging Het
Tas2r116 T C 6: 132,832,993 (GRCm39) V198A probably benign Het
Tfap2d A G 1: 19,175,024 (GRCm39) D159G probably benign Het
Trim69 A G 2: 122,003,810 (GRCm39) D253G probably benign Het
Trpv4 A T 5: 114,768,900 (GRCm39) F359I possibly damaging Het
Twist1 C T 12: 34,008,103 (GRCm39) R43W unknown Het
Usp19 A T 9: 108,376,496 (GRCm39) E1026V possibly damaging Het
Virma A G 4: 11,513,397 (GRCm39) Y417C probably damaging Het
Zfp735 A G 11: 73,603,122 (GRCm39) I689V probably benign 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
R7900:Gata3 UTSW 2 9,863,461 (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'- TTTAGCTCCAAGGAAGGTGACTG -3'
(R):5'- TGATGACTTTCATGTGGCCC -3'

Sequencing Primer
(F):5'- GAAACCCATCAGAAATCTGGATGCTG -3'
(R):5'- CAGTCTTCATAGCTCTGC -3'
Posted On 2021-01-18