Incidental Mutation 'R7501:Gata6'
ID 581505
Institutional Source Beutler Lab
Gene Symbol Gata6
Ensembl Gene ENSMUSG00000005836
Gene Name GATA binding protein 6
MMRRC Submission 045574-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7501 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 11052510-11085636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11054082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 4 (T4A)
Ref Sequence ENSEMBL: ENSMUSP00000041774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047762]
AlphaFold Q61169
Predicted Effect probably damaging
Transcript: ENSMUST00000047762
AA Change: T4A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041774
Gene: ENSMUSG00000005836
AA Change: T4A

low complexity region 14 29 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
low complexity region 84 105 N/A INTRINSIC
Pfam:GATA-N 147 372 2.3e-62 PFAM
ZnF_GATA 378 429 4.23e-16 SMART
ZnF_GATA 432 482 3.62e-24 SMART
Meta Mutation Damage Score 0.0572 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,142,974 (GRCm39) N503S probably benign Het
Adam1a C T 5: 121,657,011 (GRCm39) A761T possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Ankrd44 T C 1: 54,688,522 (GRCm39) E238G Het
Ap3b2 A T 7: 81,123,194 (GRCm39) I440K probably damaging Het
Atp2a1 G A 7: 126,049,344 (GRCm39) T566I probably benign Het
B3galnt1 T C 3: 69,482,632 (GRCm39) I210V probably benign Het
Bag5 T C 12: 111,676,722 (GRCm39) K367R probably benign Het
Cdc25b T C 2: 131,036,080 (GRCm39) Y410H probably damaging Het
Cgref1 G T 5: 31,102,800 (GRCm39) P7Q probably damaging Het
Cnot6 T C 11: 49,576,159 (GRCm39) I136V probably benign Het
Comp A G 8: 70,832,059 (GRCm39) D500G possibly damaging Het
Dnah7b T C 1: 46,395,714 (GRCm39) L3872P probably damaging Het
Dync2h1 A T 9: 7,175,336 (GRCm39) L91Q possibly damaging Het
Fancd2 T C 6: 113,525,364 (GRCm39) V280A possibly damaging Het
Fat4 T A 3: 39,012,597 (GRCm39) Y2297* probably null Het
Fem1c A T 18: 46,638,868 (GRCm39) M378K probably damaging Het
Gatb G C 3: 85,544,297 (GRCm39) V422L probably damaging Het
Gfpt1 T A 6: 87,059,508 (GRCm39) D510E probably benign Het
Gria4 A T 9: 4,502,436 (GRCm39) Y366N probably benign Het
Gucy1b1 T C 3: 81,942,666 (GRCm39) H492R probably damaging Het
H2bc6 A G 13: 23,769,776 (GRCm39) I55T possibly damaging Het
Hecw2 T C 1: 53,953,031 (GRCm39) probably null Het
Hnrnph1 A C 11: 50,270,383 (GRCm39) E62D probably benign Het
Itga2 A G 13: 115,012,095 (GRCm39) V274A probably damaging Het
Kdm5d T A Y: 941,488 (GRCm39) W1230R probably damaging Het
Lctl A T 9: 64,038,861 (GRCm39) M317L probably benign Het
Lrp6 T C 6: 134,463,471 (GRCm39) D570G probably damaging Het
Lrrc9 G T 12: 72,496,490 (GRCm39) M39I probably damaging Het
Ltbp2 A T 12: 84,877,419 (GRCm39) I402N probably damaging Het
Mst1 G A 9: 107,959,748 (GRCm39) G297D probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nbr1 G A 11: 101,457,026 (GRCm39) R163Q probably damaging Het
Nlrp4f A G 13: 65,342,143 (GRCm39) F501L probably damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Oacyl T G 18: 65,858,369 (GRCm39) probably null Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Plxna2 C T 1: 194,326,203 (GRCm39) R46C possibly damaging Het
Ppp1r26 T A 2: 28,340,749 (GRCm39) D126E probably damaging Het
Prl6a1 A T 13: 27,500,282 (GRCm39) R84S possibly damaging Het
Ptprz1 C T 6: 23,001,746 (GRCm39) Q1279* probably null Het
Ptx4 C T 17: 25,344,166 (GRCm39) T472I possibly damaging Het
Rabgap1l A G 1: 160,528,358 (GRCm39) V416A probably damaging Het
Rbfox2 A T 15: 76,989,834 (GRCm39) D231E probably benign Het
Reln A T 5: 22,432,636 (GRCm39) F121L possibly damaging Het
Rfx7 G A 9: 72,524,054 (GRCm39) V415I probably benign Het
Scaf4 A T 16: 90,026,964 (GRCm39) M951K unknown Het
Sdf4 T C 4: 156,080,977 (GRCm39) probably null Het
Sec16a T C 2: 26,331,863 (GRCm39) T51A probably damaging Het
Sema3a A G 5: 13,607,008 (GRCm39) N281S probably damaging Het
Snai2 G A 16: 14,524,754 (GRCm39) V87I possibly damaging Het
Spata31f1e T C 4: 42,791,357 (GRCm39) E925G probably damaging Het
Synj2 T A 17: 6,040,514 (GRCm39) S197T possibly damaging Het
Syt6 A T 3: 103,495,018 (GRCm39) M328L probably benign Het
Tdrd12 A G 7: 35,177,516 (GRCm39) V946A unknown Het
Trat1 A T 16: 48,574,657 (GRCm39) probably null Het
Vmn1r75 T A 7: 11,614,997 (GRCm39) I243K possibly damaging Het
Vmn2r83 G A 10: 79,327,771 (GRCm39) C793Y probably damaging Het
Wnt9a G A 11: 59,219,583 (GRCm39) G203D probably damaging Het
Xrn2 T C 2: 146,871,676 (GRCm39) I366T probably damaging Het
Zfp280d A G 9: 72,269,224 (GRCm39) D787G possibly damaging Het
Zfp706 T C 15: 37,002,169 (GRCm39) T53A probably damaging Het
Other mutations in Gata6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Gata6 APN 18 11,084,330 (GRCm39) missense possibly damaging 0.47
IGL01328:Gata6 APN 18 11,064,530 (GRCm39) missense probably damaging 0.99
IGL02419:Gata6 APN 18 11,054,220 (GRCm39) missense probably damaging 1.00
Lutsen UTSW 18 11,063,059 (GRCm39) missense possibly damaging 0.65
R0538:Gata6 UTSW 18 11,064,771 (GRCm39) missense probably benign 0.11
R1419:Gata6 UTSW 18 11,064,706 (GRCm39) missense probably benign 0.42
R2000:Gata6 UTSW 18 11,054,113 (GRCm39) missense probably benign 0.04
R3113:Gata6 UTSW 18 11,063,124 (GRCm39) missense probably damaging 1.00
R4765:Gata6 UTSW 18 11,054,394 (GRCm39) missense probably benign
R4855:Gata6 UTSW 18 11,054,497 (GRCm39) missense possibly damaging 0.92
R5368:Gata6 UTSW 18 11,063,059 (GRCm39) missense possibly damaging 0.65
R6805:Gata6 UTSW 18 11,054,460 (GRCm39) missense possibly damaging 0.83
R7192:Gata6 UTSW 18 11,054,475 (GRCm39) missense possibly damaging 0.82
R7206:Gata6 UTSW 18 11,054,850 (GRCm39) missense probably damaging 1.00
R7541:Gata6 UTSW 18 11,059,108 (GRCm39) missense probably damaging 1.00
R7736:Gata6 UTSW 18 11,084,379 (GRCm39) missense probably damaging 1.00
R8029:Gata6 UTSW 18 11,054,944 (GRCm39) missense possibly damaging 0.68
R8251:Gata6 UTSW 18 11,054,670 (GRCm39) missense probably benign 0.03
R9339:Gata6 UTSW 18 11,054,520 (GRCm39) missense probably damaging 0.98
R9712:Gata6 UTSW 18 11,059,064 (GRCm39) missense possibly damaging 0.68
R9753:Gata6 UTSW 18 11,064,706 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-17