Incidental Mutation 'R0043:Gata4'
ID 18555
Institutional Source Beutler Lab
Gene Symbol Gata4
Ensembl Gene ENSMUSG00000021944
Gene Name GATA binding protein 4
Synonyms Gata-4
MMRRC Submission 038337-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0043 (G1)
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 63436371-63509141 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 63440750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067417] [ENSMUST00000118022] [ENSMUST00000121312]
AlphaFold Q08369
Predicted Effect probably benign
Transcript: ENSMUST00000067417
SMART Domains Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944

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 probably benign
Transcript: ENSMUST00000118022
SMART Domains Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944

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
SMART Domains Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944

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
Coding Region Coverage
  • 1x: 81.2%
  • 3x: 72.1%
  • 10x: 49.9%
  • 20x: 30.2%
Validation Efficiency 90% (56/62)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,672,230 (GRCm39) Y213H probably benign Het
Adcy9 A G 16: 4,106,879 (GRCm39) L982P probably benign Het
Cntnap2 T A 6: 46,460,917 (GRCm39) V651E probably benign Het
Cstf3 A T 2: 104,475,430 (GRCm39) probably benign Het
Dnah1 T C 14: 30,996,362 (GRCm39) D2658G probably damaging Het
Dsg4 T C 18: 20,586,029 (GRCm39) S240P probably damaging Het
Dync2h1 C T 9: 7,005,574 (GRCm39) M3765I probably benign Het
Fbxw7 T C 3: 84,879,874 (GRCm39) probably benign Het
Fhip2b A T 14: 70,826,101 (GRCm39) S304T probably benign Het
Hyal1 T C 9: 107,456,519 (GRCm39) L152P probably benign Het
Ifi207 T A 1: 173,556,678 (GRCm39) T694S possibly damaging Het
Kalrn C A 16: 33,875,276 (GRCm39) G99W probably damaging Het
Man1a2 A T 3: 100,495,196 (GRCm39) W448R probably damaging Het
Mfsd6 A T 1: 52,747,811 (GRCm39) Y351* probably null Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mki67 T C 7: 135,302,310 (GRCm39) D908G probably benign Het
Nav3 A G 10: 109,603,379 (GRCm39) S1057P possibly damaging Het
Rasgef1b T C 5: 99,391,053 (GRCm39) Y102C probably damaging Het
Sbf1 A G 15: 89,179,764 (GRCm39) V1281A probably benign Het
Sfmbt1 T A 14: 30,538,764 (GRCm39) S794R probably damaging Het
Skint3 T A 4: 112,134,820 (GRCm39) V331E probably damaging Het
Spata31e2 T A 1: 26,722,883 (GRCm39) I766F possibly damaging Het
Spata6 A T 4: 111,638,002 (GRCm39) R277S probably damaging Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Trappc11 A G 8: 47,958,610 (GRCm39) probably benign Het
Ube2u G T 4: 100,340,026 (GRCm39) V66F possibly damaging Het
Usp42 A C 5: 143,700,465 (GRCm39) V1186G probably benign Het
Yme1l1 T C 2: 23,077,815 (GRCm39) I419T probably 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
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
R3500:Gata4 UTSW 14 63,437,982 (GRCm39) missense possibly damaging 0.84
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
Posted On 2013-03-25