Incidental Mutation 'IGL02172:Gatad2b'
ID282957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatad2b
Ensembl Gene ENSMUSG00000042390
Gene NameGATA zinc finger domain containing 2B
Synonymsp66beta, C430014D17Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL02172
Quality Score
Status
Chromosome3
Chromosomal Location90293178-90363407 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 90355671 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000049382] [ENSMUST00000197988] [ENSMUST00000199607] [ENSMUST00000199754]
Predicted Effect probably benign
Transcript: ENSMUST00000049382
SMART Domains Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390

DomainStartEndE-ValueType
low complexity region 130 146 N/A INTRINSIC
Pfam:P66_CC 158 201 1.7e-21 PFAM
low complexity region 341 361 N/A INTRINSIC
low complexity region 365 382 N/A INTRINSIC
Pfam:GATA 421 455 1e-11 PFAM
coiled coil region 456 478 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196212
Predicted Effect probably benign
Transcript: ENSMUST00000197988
SMART Domains Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390

DomainStartEndE-ValueType
low complexity region 130 146 N/A INTRINSIC
coiled coil region 158 194 N/A INTRINSIC
low complexity region 325 345 N/A INTRINSIC
low complexity region 349 366 N/A INTRINSIC
Pfam:GATA 405 439 9.3e-11 PFAM
coiled coil region 440 462 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199607
SMART Domains Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390

DomainStartEndE-ValueType
low complexity region 130 146 N/A INTRINSIC
coiled coil region 158 194 N/A INTRINSIC
low complexity region 341 361 N/A INTRINSIC
low complexity region 365 382 N/A INTRINSIC
Pfam:GATA 421 455 7.8e-11 PFAM
coiled coil region 456 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199754
SMART Domains Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390

DomainStartEndE-ValueType
low complexity region 130 146 N/A INTRINSIC
coiled coil region 158 194 N/A INTRINSIC
low complexity region 341 361 N/A INTRINSIC
low complexity region 365 382 N/A INTRINSIC
Pfam:GATA 421 455 7.8e-11 PFAM
coiled coil region 456 478 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200373
Predicted Effect probably benign
Transcript: ENSMUST00000206907
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with mental retardation. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,004,873 V3236A probably damaging Het
Abca12 A G 1: 71,302,658 V1048A probably benign Het
Adgre1 C T 17: 57,478,879 T875I probably damaging Het
Arhgef26 T C 3: 62,459,676 V810A probably benign Het
Atf1 T A 15: 100,254,441 V105E probably damaging Het
Bbs9 C T 9: 22,579,476 T300I possibly damaging Het
Brd7 G T 8: 88,351,824 H226Q probably benign Het
Cadps T C 14: 12,705,681 K238R probably damaging Het
Chordc1 A G 9: 18,302,092 T80A possibly damaging Het
Clca4a A T 3: 144,970,394 C126* probably null Het
Col24a1 A T 3: 145,314,962 T365S probably benign Het
Crb1 C T 1: 139,237,227 G1053D probably damaging Het
Creb3l4 A T 3: 90,242,775 S20T probably benign Het
Cyp2c67 C T 19: 39,649,002 C10Y possibly damaging Het
Dhdh A T 7: 45,475,617 C294S probably damaging Het
Fam135a A G 1: 24,024,780 probably null Het
Fsd1 G T 17: 55,990,244 probably benign Het
Glb1l2 T C 9: 26,769,086 D232G probably damaging Het
Gm10553 T C 1: 85,100,294 L44P probably damaging Het
Hecw1 T C 13: 14,264,149 Y883C probably damaging Het
Helq A G 5: 100,790,147 F478L probably damaging Het
Ift172 T C 5: 31,281,337 probably benign Het
Krtcap3 A C 5: 31,252,053 T55P probably damaging Het
Megf6 A G 4: 154,270,692 D1488G probably damaging Het
Mrpl1 T C 5: 96,231,715 V203A probably damaging Het
Myh2 A T 11: 67,189,052 D1084V possibly damaging Het
Necap2 T A 4: 141,078,310 probably benign Het
Nemp1 A G 10: 127,692,999 S191G probably benign Het
Nrip1 T C 16: 76,291,492 D1059G probably damaging Het
Ntrk3 A T 7: 78,460,272 probably benign Het
Olfr558 G A 7: 102,709,844 R195H probably benign Het
Olfr583 A G 7: 103,051,375 I26V probably benign Het
Prkdc T G 16: 15,809,759 V3427G probably benign Het
Ptprn2 A T 12: 116,873,697 probably benign Het
Ptprt A T 2: 161,555,502 L1095H probably damaging Het
Ren1 T A 1: 133,359,033 L300Q possibly damaging Het
Rgl3 A G 9: 21,976,838 I460T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 Q265P probably benign Het
Sh3d21 A G 4: 126,152,360 S282P probably benign Het
Slc39a13 T C 2: 91,063,160 E318G possibly damaging Het
Srd5a3 T C 5: 76,147,709 I82T probably benign Het
Stard7 C A 2: 127,290,872 T220N probably damaging Het
Tbx4 G A 11: 85,914,563 G493R possibly damaging Het
Trerf1 A T 17: 47,317,817 noncoding transcript Het
Trim59 T A 3: 69,037,477 I177L probably benign Het
Trpm7 T C 2: 126,795,328 M1789V possibly damaging Het
Tsc22d1 T C 14: 76,417,692 V455A probably benign Het
Vmn2r118 C A 17: 55,624,598 M25I probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr90 G A 17: 25,850,434 T1233I probably benign Het
Zcchc2 G A 1: 106,000,934 D308N probably benign Het
Zfp57 G T 17: 37,009,589 V112L possibly damaging Het
Zfp874b A T 13: 67,474,016 Y388N probably damaging Het
Other mutations in Gatad2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Gatad2b APN 3 90352078 missense possibly damaging 0.93
IGL02672:Gatad2b APN 3 90341891 missense possibly damaging 0.77
IGL03030:Gatad2b APN 3 90341937 missense probably benign 0.11
FR4449:Gatad2b UTSW 3 90341917 small deletion probably benign
R0083:Gatad2b UTSW 3 90357943 missense probably damaging 1.00
R0108:Gatad2b UTSW 3 90357943 missense probably damaging 1.00
R0335:Gatad2b UTSW 3 90356182 missense probably benign 0.00
R0707:Gatad2b UTSW 3 90356182 missense probably benign 0.00
R1722:Gatad2b UTSW 3 90355679 missense probably damaging 1.00
R1782:Gatad2b UTSW 3 90341871 missense probably benign 0.01
R2138:Gatad2b UTSW 3 90352113 missense probably damaging 1.00
R5954:Gatad2b UTSW 3 90351441 missense probably damaging 1.00
R6834:Gatad2b UTSW 3 90348643 missense probably benign 0.00
Posted On2015-04-16