Incidental Mutation 'IGL02483:Gata4'
ID 295321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gata4
Ensembl Gene ENSMUSG00000021944
Gene Name GATA binding protein 4
Synonyms Gata-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02483
Quality Score
Status
Chromosome 14
Chromosomal Location 63436371-63509141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63437910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 414 (T414A)
Ref Sequence ENSEMBL: ENSMUSP00000113891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067417] [ENSMUST00000118022] [ENSMUST00000121312]
AlphaFold Q08369
Predicted Effect probably benign
Transcript: ENSMUST00000067417
AA Change: T415A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066927
Gene: ENSMUSG00000021944
AA Change: T415A

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
AA Change: T414A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113891
Gene: ENSMUSG00000021944
AA Change: T414A

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: T209A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113451
Gene: ENSMUSG00000021944
AA Change: T209A

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
Validation Efficiency
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
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign 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
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
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 2015-04-16