Incidental Mutation 'R6749:Gata5'
ID 532874
Institutional Source Beutler Lab
Gene Symbol Gata5
Ensembl Gene ENSMUSG00000015627
Gene Name GATA binding protein 5
Synonyms
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 179966926-179976492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179976143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 7 (L7S)
Ref Sequence ENSEMBL: ENSMUSP00000015771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015771]
AlphaFold P97489
Predicted Effect probably damaging
Transcript: ENSMUST00000015771
AA Change: L7S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015771
Gene: ENSMUSG00000015627
AA Change: L7S

DomainStartEndE-ValueType
Pfam:GATA-N 1 181 4.4e-58 PFAM
ZnF_GATA 190 240 7.3e-20 SMART
ZnF_GATA 244 294 1.55e-23 SMART
low complexity region 309 323 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for disruptions in this gene are viable and fertile and appear to be normal. Females, on the other hand, have abnormalities of the external genitalia, most apparently reduced distance between anus and vagina, and experience reduced fertility due to vaginal tract obstructions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign Het
Other mutations in Gata5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Gata5 APN 2 179,969,138 (GRCm39) splice site probably benign
IGL01916:Gata5 APN 2 179,968,734 (GRCm39) missense possibly damaging 0.95
IGL02662:Gata5 APN 2 179,969,544 (GRCm39) splice site probably benign
E0354:Gata5 UTSW 2 179,975,758 (GRCm39) frame shift probably null
R0562:Gata5 UTSW 2 179,969,552 (GRCm39) critical splice donor site probably null
R1959:Gata5 UTSW 2 179,968,729 (GRCm39) missense possibly damaging 0.61
R2296:Gata5 UTSW 2 179,970,113 (GRCm39) missense possibly damaging 0.87
R2862:Gata5 UTSW 2 179,976,129 (GRCm39) missense possibly damaging 0.87
R4697:Gata5 UTSW 2 179,969,172 (GRCm39) nonsense probably null
R5301:Gata5 UTSW 2 179,975,786 (GRCm39) missense probably damaging 0.96
R5583:Gata5 UTSW 2 179,976,047 (GRCm39) missense probably benign 0.02
R7038:Gata5 UTSW 2 179,975,685 (GRCm39) missense possibly damaging 0.92
R7635:Gata5 UTSW 2 179,975,790 (GRCm39) missense possibly damaging 0.54
R9066:Gata5 UTSW 2 179,968,761 (GRCm39) missense
R9099:Gata5 UTSW 2 179,976,131 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AATCAGCGGCAACTGCTTG -3'
(R):5'- TGTCATTCCACCCAGAGGAG -3'

Sequencing Primer
(F):5'- CAACTGCTTGTGTCCAGCTGG -3'
(R):5'- GACCTGCCCTGGTGAAC -3'
Posted On 2018-08-29