Incidental Mutation 'R5301:Gata5'
ID 404233
Institutional Source Beutler Lab
Gene Symbol Gata5
Ensembl Gene ENSMUSG00000015627
Gene Name GATA binding protein 5
Synonyms
MMRRC Submission 042884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5301 (G1)
Quality Score 187
Status Validated
Chromosome 2
Chromosomal Location 179966926-179976492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179975786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 126 (Y126C)
Ref Sequence ENSEMBL: ENSMUSP00000015771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015771]
AlphaFold P97489
Predicted Effect probably damaging
Transcript: ENSMUST00000015771
AA Change: Y126C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000015771
Gene: ENSMUSG00000015627
AA Change: Y126C

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (52/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,896,502 (GRCm39) V578A probably damaging Het
Abcb11 T C 2: 69,117,191 (GRCm39) I486V probably damaging Het
Abcc9 G A 6: 142,536,207 (GRCm39) T1509I probably benign Het
Akr1c20 T A 13: 4,573,279 (GRCm39) D12V probably damaging Het
Asb1 A G 1: 91,482,475 (GRCm39) Y66C probably damaging Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Bcl10 A G 3: 145,636,342 (GRCm39) D80G probably damaging Het
Bdnf T C 2: 109,553,884 (GRCm39) V46A probably benign Het
Cyp11a1 A G 9: 57,926,544 (GRCm39) probably benign Het
Cyp3a44 A G 5: 145,725,326 (GRCm39) S292P probably damaging Het
Desi2 A G 1: 178,071,952 (GRCm39) I85M probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock10 T C 1: 80,625,973 (GRCm39) D49G probably benign Het
Epcam T A 17: 87,944,305 (GRCm39) L20Q possibly damaging Het
Ercc4 T C 16: 12,948,550 (GRCm39) V589A probably damaging Het
Fcgbp A T 7: 27,793,099 (GRCm39) K1034N possibly damaging Het
Fras1 C T 5: 96,805,125 (GRCm39) L1256F possibly damaging Het
Gja1 T C 10: 56,264,475 (GRCm39) L278P probably damaging Het
Gm11596 C A 11: 99,683,847 (GRCm39) R91L unknown Het
Gm29125 A T 1: 80,362,154 (GRCm39) noncoding transcript Het
Hcrtr1 G T 4: 130,031,463 (GRCm39) probably null Het
Ifi207 G A 1: 173,556,977 (GRCm39) S587L possibly damaging Het
Ino80d T C 1: 63,113,578 (GRCm39) T291A probably benign Het
Itgb3 A G 11: 104,524,480 (GRCm39) probably null Het
Kif26b A G 1: 178,358,233 (GRCm39) S115G unknown Het
Klc3 T C 7: 19,130,274 (GRCm39) Y301C probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Meioc A T 11: 102,570,871 (GRCm39) R867S probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mthfd2 C A 6: 83,287,465 (GRCm39) G200V probably damaging Het
Nrap A G 19: 56,367,541 (GRCm39) I312T probably damaging Het
Nrp1 T G 8: 129,160,678 (GRCm39) probably null Het
Obscn A G 11: 59,026,234 (GRCm39) L323P probably damaging Het
Or11g1 T C 14: 50,651,030 (GRCm39) S10P probably benign Het
Or1b1 C T 2: 36,995,210 (GRCm39) V151M probably benign Het
Or9i14 G A 19: 13,792,933 (GRCm39) T7I probably damaging Het
Pkn2 A C 3: 142,544,967 (GRCm39) probably null Het
Ppp1r18 A G 17: 36,179,237 (GRCm39) R371G probably benign Het
Prkar2b A C 12: 32,025,927 (GRCm39) V31G probably damaging Het
Reg3b T A 6: 78,348,243 (GRCm39) M19K probably damaging Het
Sec14l2 G A 11: 4,068,727 (GRCm39) probably benign Het
Sgca C T 11: 94,854,157 (GRCm39) R104Q probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Sorcs2 A G 5: 36,196,734 (GRCm39) V637A probably damaging Het
Tdrd9 T A 12: 112,002,963 (GRCm39) probably null Het
Tmem181a T C 17: 6,346,070 (GRCm39) I229T possibly damaging Het
Tmpo A T 10: 90,985,650 (GRCm39) probably benign Het
Ttc41 T C 10: 86,555,384 (GRCm39) V280A probably benign Het
Vmn1r234 G T 17: 21,449,589 (GRCm39) V168F probably benign Het
Vmn2r96 T A 17: 18,817,950 (GRCm39) I701N probably damaging Het
Wnt16 T A 6: 22,297,848 (GRCm39) M238K probably damaging Het
Zfp607b A G 7: 27,403,172 (GRCm39) T543A 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
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'- CGCGCCTTAGTTTTAGAGCCAG -3'
(R):5'- AAGCAGTTGCCGCTGATTCC -3'

Sequencing Primer
(F):5'- AGTTTTAGAGCCAGGTCCAC -3'
(R):5'- CTGATTCCTCAGCCTTCGG -3'
Posted On 2016-07-22