Incidental Mutation 'R4697:Gata5'
ID355755
Institutional Source Beutler Lab
Gene Symbol Gata5
Ensembl Gene ENSMUSG00000015627
Gene NameGATA binding protein 5
Synonyms
MMRRC Submission 041947-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4697 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location180325133-180334699 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 180327379 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 345 (C345*)
Ref Sequence ENSEMBL: ENSMUSP00000015771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015771]
Predicted Effect probably null
Transcript: ENSMUST00000015771
AA Change: C345*
SMART Domains Protein: ENSMUSP00000015771
Gene: ENSMUSG00000015627
AA Change: C345*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,791,448 I455N probably damaging Het
A2m T C 6: 121,638,284 M1T probably null Het
Aatf T A 11: 84,449,138 D449V probably damaging Het
Acbd3 T A 1: 180,721,944 probably benign Het
BC005561 A G 5: 104,522,240 K1543E probably benign Het
Bicc1 T A 10: 70,953,484 I366F possibly damaging Het
Ccdc74a T C 16: 17,649,749 S184P possibly damaging Het
Cntn4 T C 6: 106,525,485 V401A probably damaging Het
Cux2 T C 5: 121,873,753 T540A probably damaging Het
Disp2 G T 2: 118,791,684 E966* probably null Het
Dpp7 A G 2: 25,354,919 Y209H probably benign Het
Dstyk T A 1: 132,449,487 F277Y probably damaging Het
Dtx1 A T 5: 120,694,408 probably null Het
Ear-ps2 G A 14: 44,047,060 noncoding transcript Het
Ednra T C 8: 77,664,995 H422R probably benign Het
Erlec1 T A 11: 30,952,640 I67F probably benign Het
Fam161b G A 12: 84,348,558 probably benign Het
Glmp T C 3: 88,328,274 V47A probably damaging Het
Gm9762 T A 3: 78,966,550 noncoding transcript Het
Gnas A T 2: 174,298,080 D14V probably damaging Het
Gnl3 T C 14: 31,017,329 S53G probably damaging Het
Grhl3 C T 4: 135,548,466 V527M probably damaging Het
Hoxd10 T A 2: 74,694,187 L281* probably null Het
Kif16b T G 2: 142,690,694 Y1175S probably benign Het
Kif2b A G 11: 91,576,846 S204P probably benign Het
Klhl40 T A 9: 121,778,734 I320N probably damaging Het
Ksr2 G A 5: 117,708,147 R693Q probably damaging Het
Mis12 A G 11: 71,025,326 K62E possibly damaging Het
Mlc1 A G 15: 88,974,777 C102R probably damaging Het
Muc5b T C 7: 141,857,361 I1348T unknown Het
Myh7b A G 2: 155,629,322 E1130G probably damaging Het
Nat8f4 T C 6: 85,901,386 T52A probably benign Het
Nxpe2 C A 9: 48,320,521 V379L probably benign Het
Olfr1231 C A 2: 89,302,902 S230I possibly damaging Het
Olfr1231 T A 2: 89,302,903 S230C probably damaging Het
Olfr1448 C T 19: 12,919,934 C125Y probably damaging Het
Olfr1465 A T 19: 13,313,717 D189E probably benign Het
Olfr288 G A 15: 98,186,868 R310W probably damaging Het
Pcdhga7 A T 18: 37,717,208 Y756F probably damaging Het
Pcsk6 T A 7: 65,959,241 Y284N probably damaging Het
Pdcd11 T C 19: 47,126,347 V1367A possibly damaging Het
Postn T A 3: 54,375,071 N484K probably damaging Het
Prkd3 C T 17: 78,961,171 V572I probably benign Het
Qser1 T C 2: 104,787,183 S1005G probably benign Het
Radil G T 5: 142,486,801 D951E probably benign Het
Ripk1 C T 13: 34,027,942 R352* probably null Het
Sacs T C 14: 61,212,747 F4081L probably benign Het
Sbf1 A G 15: 89,315,085 V11A possibly damaging Het
Sgip1 T A 4: 102,934,587 F536I probably damaging Het
Slc45a1 A G 4: 150,638,284 L381P probably damaging Het
Smarcad1 C T 6: 65,052,641 P71L probably benign Het
Spns1 T A 7: 126,377,037 D14V probably damaging Het
Sv2c T A 13: 95,986,018 I417F possibly damaging Het
Tas2r113 T A 6: 132,893,516 M169K probably benign Het
Tgm1 A T 14: 55,705,681 N567K probably benign Het
Tln2 C T 9: 67,395,461 R76Q probably damaging Het
Trpm6 T C 19: 18,853,791 V1340A probably benign Het
Tspan18 A T 2: 93,312,030 probably null Het
Txndc11 C T 16: 11,084,314 V679I probably damaging Het
Usf1 G T 1: 171,416,964 G144V possibly damaging Het
Vmn1r59 T C 7: 5,454,452 Y103C probably damaging Het
Vmn2r23 A T 6: 123,741,826 I713F probably damaging Het
Vmn2r79 A T 7: 87,037,960 I850F probably damaging Het
Wdr90 C T 17: 25,855,363 R676H probably benign Het
Zfp867 G A 11: 59,463,661 R281W probably damaging Het
Zfp939 T C 7: 39,472,942 noncoding transcript Het
Other mutations in Gata5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Gata5 APN 2 180327345 splice site probably benign
IGL01916:Gata5 APN 2 180326941 missense possibly damaging 0.95
IGL02662:Gata5 APN 2 180327751 splice site probably benign
E0354:Gata5 UTSW 2 180333965 frame shift probably null
R0562:Gata5 UTSW 2 180327759 critical splice donor site probably null
R1959:Gata5 UTSW 2 180326936 missense possibly damaging 0.61
R2296:Gata5 UTSW 2 180328320 missense possibly damaging 0.87
R2862:Gata5 UTSW 2 180334336 missense possibly damaging 0.87
R5301:Gata5 UTSW 2 180333993 missense probably damaging 0.96
R5583:Gata5 UTSW 2 180334254 missense probably benign 0.02
R6749:Gata5 UTSW 2 180334350 missense probably damaging 0.99
R7038:Gata5 UTSW 2 180333892 missense possibly damaging 0.92
R7635:Gata5 UTSW 2 180333997 missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- ACTAGTAAGACCTGCAGGGC -3'
(R):5'- GCCACATGGTGAGAAATATGGTC -3'

Sequencing Primer
(F):5'- TGCCACACACAGTTCCAGGG -3'
(R):5'- TGAGAAATATGGTCAGGTATGGCAC -3'
Posted On2015-10-21