Incidental Mutation 'E0354:Gata5'
ID 233291
Institutional Source Beutler Lab
Gene Symbol Gata5
Ensembl Gene ENSMUSG00000015627
Gene Name GATA binding protein 5
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # E0354 (G1)
Quality Score 118
Status Not validated
Chromosome 2
Chromosomal Location 179966926-179976492 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCCC to GCC at 179975758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015771]
AlphaFold P97489
Predicted Effect probably null
Transcript: ENSMUST00000015771
SMART Domains Protein: ENSMUSP00000015771
Gene: ENSMUSG00000015627

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069943
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik G T 5: 114,951,241 (GRCm39) N53K possibly damaging Het
Dync1li2 T C 8: 105,152,099 (GRCm39) D358G probably damaging Het
Gabra4 C G 5: 71,798,204 (GRCm39) D208H probably damaging Het
Gdi2 T A 13: 3,611,939 (GRCm39) probably null Het
Hdac5 TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTC 11: 102,092,972 (GRCm39) probably benign Het
Tlr3 A T 8: 45,853,857 (GRCm39) D154E probably damaging Het
Trap1 G T 16: 3,883,152 (GRCm39) P141Q probably benign Het
Trav8d-2 T A 14: 53,280,051 (GRCm39) probably benign Het
Trim9 G A 12: 70,319,233 (GRCm39) P412S probably benign Het
Zfp827 A G 8: 79,863,206 (GRCm39) D763G probably damaging 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
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
R6749:Gata5 UTSW 2 179,976,143 (GRCm39) missense probably damaging 0.99
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'- GCGCCTTAGTTTTAGAGCCAGG -3'
(R):5'- AAGCAGTTGCCGCTGATTC -3'

Sequencing Primer
(F):5'- AGTTTTAGAGCCAGGTCCAC -3'
(R):5'- CTGATTCCTCAGCCTTCGG -3'
Posted On 2014-10-01