Incidental Mutation 'R3500:Gata4'
ID 273777
Institutional Source Beutler Lab
Gene Symbol Gata4
Ensembl Gene ENSMUSG00000021944
Gene Name GATA binding protein 4
Synonyms Gata-4
MMRRC Submission 040663-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3500 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 63436371-63509141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63437982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 390 (G390S)
Ref Sequence ENSEMBL: ENSMUSP00000113891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067417] [ENSMUST00000118022] [ENSMUST00000121312]
AlphaFold Q08369
Predicted Effect possibly damaging
Transcript: ENSMUST00000067417
AA Change: G391S

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: G391S

DomainStartEndE-ValueType
Pfam:GATA-N 1 204 2.2e-54 PFAM
ZnF_GATA 211 261 4.36e-18 SMART
ZnF_GATA 265 315 1.02e-23 SMART
low complexity region 342 360 N/A INTRINSIC
low complexity region 373 390 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118022
AA Change: G390S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: G390S

DomainStartEndE-ValueType
Pfam:GATA-N 1 207 7.8e-54 PFAM
ZnF_GATA 210 260 4.36e-18 SMART
ZnF_GATA 264 314 1.02e-23 SMART
low complexity region 341 359 N/A INTRINSIC
low complexity region 372 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121312
AA Change: G185S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944
AA Change: G185S

DomainStartEndE-ValueType
ZnF_GATA 5 55 4.36e-18 SMART
ZnF_GATA 59 109 1.02e-23 SMART
low complexity region 136 154 N/A INTRINSIC
low complexity region 167 184 N/A INTRINSIC
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
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. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in ventral morphogenesis, lack a primitive heart tube and foregut, develop partially outside the yolk sac, and die by midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 A G 15: 102,355,501 (GRCm39) D188G probably benign Het
Arl15 G A 13: 114,104,228 (GRCm39) E102K probably damaging Het
Atp10d C T 5: 72,403,066 (GRCm39) R319C probably damaging Het
Cetn4 A T 3: 37,364,109 (GRCm39) F34I probably benign Het
Chd8 G T 14: 52,443,110 (GRCm39) H510N probably benign Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Clcn1 T C 6: 42,269,929 (GRCm39) S251P probably damaging Het
Clstn3 A T 6: 124,408,670 (GRCm39) C881S probably benign Het
Cnot4 G A 6: 35,057,076 (GRCm39) probably benign Het
Copg1 G A 6: 87,872,905 (GRCm39) probably benign Het
Czib C T 4: 107,748,710 (GRCm39) R83W probably damaging Het
Eftud2 A G 11: 102,735,006 (GRCm39) M631T probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Fancb A G X: 163,779,104 (GRCm39) T721A probably damaging Het
Fat2 A G 11: 55,151,342 (GRCm39) F3800S probably damaging Het
Fgd2 T C 17: 29,584,575 (GRCm39) V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 (GRCm39) probably benign Het
Gm9396 C A 3: 129,862,144 (GRCm39) noncoding transcript Het
Grid2 T C 6: 63,480,383 (GRCm39) S66P probably damaging Het
Hdac9 C A 12: 34,487,352 (GRCm39) M16I probably benign Het
Kmt2c A T 5: 25,504,477 (GRCm39) D3610E probably benign Het
Lactb2 A T 1: 13,730,673 (GRCm39) M1K probably null Het
Ldhb T C 6: 142,447,173 (GRCm39) D47G probably damaging Het
Map3k11 A T 19: 5,740,275 (GRCm39) M1L probably benign Het
Mecom C T 3: 30,035,061 (GRCm39) R205H probably damaging Het
Mob1b A G 5: 88,897,479 (GRCm39) D129G probably benign Het
Nbea A G 3: 55,588,431 (GRCm39) V2436A possibly damaging Het
Neb T C 2: 52,215,797 (GRCm39) N170S probably damaging Het
Nedd4l G A 18: 65,345,931 (GRCm39) A848T probably damaging Het
Nr5a1 G A 2: 38,597,952 (GRCm39) R282* probably null Het
Or4c102 A G 2: 88,422,285 (GRCm39) T46A probably damaging Het
Or4c119 C T 2: 88,987,403 (GRCm39) G39R probably damaging Het
Or4d10c A G 19: 12,065,421 (GRCm39) V245A possibly damaging Het
Or4f47 T C 2: 111,972,472 (GRCm39) F61L possibly damaging Het
Or52e2 T C 7: 102,804,297 (GRCm39) Y219C probably damaging Het
Pcdhb19 T A 18: 37,630,532 (GRCm39) L109* probably null Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Podxl2 T C 6: 88,819,900 (GRCm39) D554G probably damaging Het
Ppp3ca A G 3: 136,587,273 (GRCm39) T252A probably benign Het
Pramel6 A G 2: 87,339,569 (GRCm39) H111R probably damaging Het
Prr19 A G 7: 25,002,692 (GRCm39) E130G probably damaging Het
Rab44 C T 17: 29,357,041 (GRCm39) A57V probably benign Het
Rhbdl3 T C 11: 80,210,531 (GRCm39) F95L probably damaging Het
Sdk1 G T 5: 141,992,371 (GRCm39) probably benign Het
Tas2r122 T A 6: 132,688,523 (GRCm39) K123N probably damaging Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Trpm2 A G 10: 77,768,136 (GRCm39) F788L probably benign Het
Ttn G A 2: 76,560,628 (GRCm39) L29258F probably damaging Het
Ttn G T 2: 76,591,509 (GRCm39) F19307L possibly damaging Het
Vmn2r23 T C 6: 123,690,129 (GRCm39) I335T possibly damaging Het
Other mutations in Gata4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Gata4 APN 14 63,437,912 (GRCm39) missense possibly damaging 0.53
IGL02481:Gata4 APN 14 63,437,910 (GRCm39) missense probably benign 0.01
IGL02483:Gata4 APN 14 63,437,910 (GRCm39) missense probably benign 0.01
IGL02643:Gata4 APN 14 63,442,204 (GRCm39) missense possibly damaging 0.85
R0034:Gata4 UTSW 14 63,438,933 (GRCm39) missense probably benign 0.00
R0043:Gata4 UTSW 14 63,440,750 (GRCm39) splice site probably benign
R1131:Gata4 UTSW 14 63,442,189 (GRCm39) missense possibly damaging 0.71
R1880:Gata4 UTSW 14 63,442,144 (GRCm39) missense probably damaging 1.00
R3949:Gata4 UTSW 14 63,478,146 (GRCm39) missense possibly damaging 0.95
R4893:Gata4 UTSW 14 63,439,045 (GRCm39) missense probably benign 0.01
R4976:Gata4 UTSW 14 63,441,138 (GRCm39) missense probably damaging 1.00
R5152:Gata4 UTSW 14 63,478,570 (GRCm39) missense probably damaging 1.00
R5198:Gata4 UTSW 14 63,437,900 (GRCm39) missense probably benign 0.09
R5237:Gata4 UTSW 14 63,478,075 (GRCm39) missense probably benign 0.28
R5291:Gata4 UTSW 14 63,478,048 (GRCm39) missense probably damaging 0.98
R5358:Gata4 UTSW 14 63,478,075 (GRCm39) missense probably benign 0.28
R5693:Gata4 UTSW 14 63,478,594 (GRCm39) missense probably damaging 1.00
R7143:Gata4 UTSW 14 63,442,066 (GRCm39) missense probably damaging 1.00
R7299:Gata4 UTSW 14 63,441,191 (GRCm39) missense probably damaging 1.00
R7729:Gata4 UTSW 14 63,478,186 (GRCm39) missense probably benign 0.00
R7849:Gata4 UTSW 14 63,442,174 (GRCm39) missense possibly damaging 0.92
R8186:Gata4 UTSW 14 63,438,962 (GRCm39) missense probably benign 0.00
R8673:Gata4 UTSW 14 63,478,258 (GRCm39) missense probably benign 0.00
R8883:Gata4 UTSW 14 63,442,204 (GRCm39) missense probably benign 0.05
R9628:Gata4 UTSW 14 63,478,545 (GRCm39) missense probably damaging 0.99
Z1177:Gata4 UTSW 14 63,478,714 (GRCm39) start gained probably benign
Z1177:Gata4 UTSW 14 63,437,831 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTGTTCCCAGACAAAGGGG -3'
(R):5'- TCAGAAGCCAACGTGGAAGC -3'

Sequencing Primer
(F):5'- ACGTCCCAAGTCCGAGCAG -3'
(R):5'- GTGGAAGCACACAGACCCTC -3'
Posted On 2015-04-02