Incidental Mutation 'R7104:Gatad2b'
ID 551039
Institutional Source Beutler Lab
Gene Symbol Gatad2b
Ensembl Gene ENSMUSG00000042390
Gene Name GATA zinc finger domain containing 2B
Synonyms p66beta, C430014D17Rik
MMRRC Submission 045196-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7104 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 90200488-90270712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90258724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 249 (I249N)
Ref Sequence ENSEMBL: ENSMUSP00000041370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049382] [ENSMUST00000197988] [ENSMUST00000199607] [ENSMUST00000199754]
AlphaFold Q8VHR5
Predicted Effect probably damaging
Transcript: ENSMUST00000049382
AA Change: I249N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: I249N

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 probably damaging
Transcript: ENSMUST00000197988
AA Change: I249N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: I249N

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 damaging
Transcript: ENSMUST00000199607
AA Change: I249N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: I249N

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 damaging
Transcript: ENSMUST00000199754
AA Change: I249N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: I249N

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: ENSMUST00000206907
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 A G 2: 90,627,891 (GRCm39) E232G probably damaging Het
Atf7 A G 15: 102,442,670 (GRCm39) S480P probably benign Het
Cdk14 A G 5: 5,245,325 (GRCm39) I166T possibly damaging Het
Cdk5rap2 G T 4: 70,267,393 (GRCm39) F358L probably benign Het
Cplane1 T C 15: 8,223,928 (GRCm39) L897P possibly damaging Het
Cytip A G 2: 58,049,986 (GRCm39) S28P probably benign Het
Dennd5b C T 6: 148,946,102 (GRCm39) R503Q probably damaging Het
Dnajc10 T A 2: 80,171,159 (GRCm39) C480S probably damaging Het
Drc7 A G 8: 95,785,711 (GRCm39) D189G probably damaging Het
Engase G A 11: 118,372,121 (GRCm39) V138M probably damaging Het
Esyt3 C A 9: 99,220,840 (GRCm39) R121L probably damaging Het
Frem1 T G 4: 82,858,918 (GRCm39) I1516L probably benign Het
Grk6 T C 13: 55,602,219 (GRCm39) S383P probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hipk2 A G 6: 38,795,579 (GRCm39) L230P probably damaging Het
Hivep1 A T 13: 42,310,814 (GRCm39) Q1018L probably benign Het
Itgad T C 7: 127,797,550 (GRCm39) F927S probably benign Het
Itgb3bp A G 4: 99,702,335 (GRCm39) V3A probably damaging Het
Kcnh7 G T 2: 62,618,031 (GRCm39) A486D possibly damaging Het
Krt1c T C 15: 101,723,522 (GRCm39) T318A probably benign Het
Ndrg1 A G 15: 66,818,377 (GRCm39) F77S probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nos1 T A 5: 118,085,496 (GRCm39) C1275S probably damaging Het
Or14a256 T C 7: 86,264,900 (GRCm39) S318G probably null Het
Or4a69 A G 2: 89,313,458 (GRCm39) V7A possibly damaging Het
Or5an9 T C 19: 12,187,242 (GRCm39) I104T possibly damaging Het
Or5d39 T C 2: 87,979,716 (GRCm39) T216A possibly damaging Het
Or5j3 T A 2: 86,128,564 (GRCm39) S135T probably benign Het
Or8b12b A T 9: 37,684,437 (GRCm39) N161Y possibly damaging Het
Pip4k2b T C 11: 97,623,542 (GRCm39) M67V possibly damaging Het
Polq C A 16: 36,909,715 (GRCm39) Y2366* probably null Het
Prg3 T C 2: 84,819,097 (GRCm39) S8P probably benign Het
Prl7c1 A T 13: 27,962,952 (GRCm39) L17* probably null Het
Prl8a8 A T 13: 27,695,479 (GRCm39) S51R probably damaging Het
Pttg1 G C 11: 43,311,976 (GRCm39) P160A probably benign Het
Rbfox1 C A 16: 7,170,867 (GRCm39) R276S possibly damaging Het
Rnase2a T G 14: 51,492,988 (GRCm39) M126L probably benign Het
Secisbp2 A T 13: 51,810,943 (GRCm39) K202* probably null Het
Sema6c A G 3: 95,076,156 (GRCm39) H236R possibly damaging Het
Septin12 A G 16: 4,809,857 (GRCm39) L181P probably damaging Het
Shc3 A T 13: 51,585,241 (GRCm39) V458D possibly damaging Het
Tecta A G 9: 42,278,239 (GRCm39) Y1090H probably benign Het
Thsd7a A T 6: 12,379,429 (GRCm39) N998K Het
Tmem131l A T 3: 83,826,766 (GRCm39) S1184T possibly damaging Het
Tnfsf15 T C 4: 63,647,887 (GRCm39) D251G probably damaging Het
Ttyh3 T C 5: 140,615,540 (GRCm39) E348G probably benign Het
Unc5c T C 3: 141,439,665 (GRCm39) L186P probably damaging Het
Vmn2r37 A T 7: 9,219,045 (GRCm39) N446K probably damaging Het
Vmn2r63 T C 7: 42,577,959 (GRCm39) D193G possibly damaging Het
Vmn2r85 A T 10: 130,262,376 (GRCm39) M121K probably benign Het
Vmn2r88 A G 14: 51,651,253 (GRCm39) D189G Het
Vwc2l C A 1: 70,768,252 (GRCm39) C105* probably null Het
Wdr72 T A 9: 74,055,597 (GRCm39) D275E probably damaging Het
Zfhx4 A T 3: 5,467,549 (GRCm39) D2594V probably damaging Het
Zfp174 C T 16: 3,672,269 (GRCm39) H273Y probably benign Het
Zwilch A G 9: 64,068,658 (GRCm39) S203P probably damaging Het
Other mutations in Gatad2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Gatad2b APN 3 90,259,385 (GRCm39) missense possibly damaging 0.93
IGL02172:Gatad2b APN 3 90,262,978 (GRCm39) splice site probably benign
IGL02672:Gatad2b APN 3 90,249,198 (GRCm39) missense possibly damaging 0.77
IGL03030:Gatad2b APN 3 90,249,244 (GRCm39) missense probably benign 0.11
FR4449:Gatad2b UTSW 3 90,249,224 (GRCm39) small deletion probably benign
R0083:Gatad2b UTSW 3 90,265,250 (GRCm39) missense probably damaging 1.00
R0108:Gatad2b UTSW 3 90,265,250 (GRCm39) missense probably damaging 1.00
R0335:Gatad2b UTSW 3 90,263,489 (GRCm39) missense probably benign 0.00
R0707:Gatad2b UTSW 3 90,263,489 (GRCm39) missense probably benign 0.00
R1722:Gatad2b UTSW 3 90,262,986 (GRCm39) missense probably damaging 1.00
R1782:Gatad2b UTSW 3 90,249,178 (GRCm39) missense probably benign 0.01
R2138:Gatad2b UTSW 3 90,259,420 (GRCm39) missense probably damaging 1.00
R5954:Gatad2b UTSW 3 90,258,748 (GRCm39) missense probably damaging 1.00
R6834:Gatad2b UTSW 3 90,255,950 (GRCm39) missense probably benign 0.00
R7190:Gatad2b UTSW 3 90,257,722 (GRCm39) missense probably benign 0.01
R7291:Gatad2b UTSW 3 90,258,721 (GRCm39) missense probably damaging 0.99
R7760:Gatad2b UTSW 3 90,261,776 (GRCm39) missense probably damaging 1.00
R7786:Gatad2b UTSW 3 90,262,986 (GRCm39) missense probably damaging 0.99
R8113:Gatad2b UTSW 3 90,249,029 (GRCm39) missense probably benign
R8836:Gatad2b UTSW 3 90,263,507 (GRCm39) missense probably damaging 1.00
R9130:Gatad2b UTSW 3 90,255,936 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAACGTTCAAGGGCACACAC -3'
(R):5'- AAGGACTTTTCTGTTTCTACCCCAG -3'

Sequencing Primer
(F):5'- GTTCAAGGGCACACACATACATG -3'
(R):5'- CAGTGCTTGCTCTTACTGGTTG -3'
Posted On 2019-05-15