Incidental Mutation 'R5526:Gatad2a'
ID 431856
Institutional Source Beutler Lab
Gene Symbol Gatad2a
Ensembl Gene ENSMUSG00000036180
Gene Name GATA zinc finger domain containing 2A
Synonyms 1110066C11Rik
MMRRC Submission 043084-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5526 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 70359726-70449034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70388591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000148637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065169] [ENSMUST00000116463] [ENSMUST00000177851] [ENSMUST00000211960] [ENSMUST00000212277] [ENSMUST00000212478]
AlphaFold Q8CHY6
Predicted Effect probably damaging
Transcript: ENSMUST00000065169
AA Change: E32G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: E32G

DomainStartEndE-ValueType
low complexity region 66 77 N/A INTRINSIC
Pfam:P66_CC 132 175 8.1e-24 PFAM
low complexity region 276 289 N/A INTRINSIC
low complexity region 322 339 N/A INTRINSIC
low complexity region 340 352 N/A INTRINSIC
low complexity region 360 367 N/A INTRINSIC
low complexity region 465 478 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000116463
AA Change: E32G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: E32G

DomainStartEndE-ValueType
low complexity region 66 77 N/A INTRINSIC
coiled coil region 135 169 N/A INTRINSIC
low complexity region 275 288 N/A INTRINSIC
low complexity region 321 338 N/A INTRINSIC
low complexity region 339 351 N/A INTRINSIC
low complexity region 359 366 N/A INTRINSIC
low complexity region 464 477 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177851
AA Change: E32G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: E32G

DomainStartEndE-ValueType
low complexity region 66 77 N/A INTRINSIC
coiled coil region 135 169 N/A INTRINSIC
low complexity region 275 288 N/A INTRINSIC
low complexity region 321 338 N/A INTRINSIC
low complexity region 339 351 N/A INTRINSIC
low complexity region 359 366 N/A INTRINSIC
low complexity region 464 477 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211960
AA Change: E32G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212277
AA Change: E32G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212478
AA Change: E32G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die around E9.5 displaying variable developmental defects, including malformed or unfused neural folds, failure of closure of anterior neuropore, missing or excessively large blood vessels in the yolk sac, abnormal embryo turning, and embryonic growth arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,331,605 (GRCm39) M1315K probably benign Het
Abcc4 C T 14: 118,868,449 (GRCm39) V168I probably benign Het
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Angpt1 A G 15: 42,375,737 (GRCm39) L173P probably damaging Het
Crls1 T A 2: 132,703,165 (GRCm39) M205K possibly damaging Het
Cspg4b T C 13: 113,504,427 (GRCm39) V1852A probably benign Het
Dhtkd1 A T 2: 5,916,662 (GRCm39) N671K probably damaging Het
Dmbt1 A T 7: 130,642,920 (GRCm39) D246V probably damaging Het
Dolk G A 2: 30,175,820 (GRCm39) A75V probably damaging Het
Dtna T A 18: 23,779,287 (GRCm39) V623E probably damaging Het
Elavl3 T C 9: 21,947,622 (GRCm39) T106A probably benign Het
Ergic1 T C 17: 26,843,652 (GRCm39) C41R probably damaging Het
Fat2 T A 11: 55,160,187 (GRCm39) I3309F possibly damaging Het
Fbn1 C A 2: 125,207,559 (GRCm39) R978L possibly damaging Het
Fzd6 A T 15: 38,894,559 (GRCm39) S242C possibly damaging Het
Galntl6 T A 8: 58,926,004 (GRCm39) H87L probably benign Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm11541 G T 11: 94,594,944 (GRCm39) H41Q unknown Het
Has3 A G 8: 107,600,579 (GRCm39) T14A probably damaging Het
Kmt2b A G 7: 30,279,869 (GRCm39) L1377P probably damaging Het
Lcorl T C 5: 45,891,069 (GRCm39) N428S probably benign Het
Lipo5 A T 19: 33,445,284 (GRCm39) V95D unknown Het
Lrp1 A T 10: 127,391,593 (GRCm39) V2942D probably benign Het
Map1a T C 2: 121,136,143 (GRCm39) S2082P probably damaging Het
Mast4 T C 13: 102,890,723 (GRCm39) S852G possibly damaging Het
Mlh3 A T 12: 85,316,147 (GRCm39) L13* probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nlrp9c T A 7: 26,081,791 (GRCm39) N645I possibly damaging Het
Or12d17 T A 17: 37,778,003 (GRCm39) L302Q unknown Het
Or12e7 T C 2: 87,288,109 (GRCm39) I200T probably benign Het
Or14j7 T A 17: 38,235,383 (GRCm39) *309K probably null Het
Or7e166 C A 9: 19,624,994 (GRCm39) Y290* probably null Het
Or8g52 A T 9: 39,630,892 (GRCm39) Y123F possibly damaging Het
Pex12 A G 11: 83,187,090 (GRCm39) V286A possibly damaging Het
Phax C T 18: 56,717,382 (GRCm39) T275I probably damaging Het
Phf21b A G 15: 84,676,006 (GRCm39) V335A probably benign Het
Psg18 A T 7: 18,083,273 (GRCm39) L173H probably damaging Het
Rab3ip T C 10: 116,754,834 (GRCm39) T209A possibly damaging Het
Ralgapb T C 2: 158,274,705 (GRCm39) V202A probably damaging Het
Rpn2 T C 2: 157,165,187 (GRCm39) L611P probably damaging Het
Runx2 T G 17: 45,035,749 (GRCm39) T148P probably damaging Het
Sbpl C A 17: 24,173,623 (GRCm39) D50Y probably damaging Het
Scn5a G A 9: 119,350,237 (GRCm39) P879L probably damaging Het
Sfn T C 4: 133,328,915 (GRCm39) R56G probably damaging Het
Spata31g1 T C 4: 42,972,125 (GRCm39) V486A possibly damaging Het
Tas2r138 C T 6: 40,589,914 (GRCm39) A111T probably benign Het
Tasp1 A T 2: 139,850,709 (GRCm39) S105T probably damaging Het
Tmem225 T G 9: 40,062,002 (GRCm39) H205Q possibly damaging Het
Tmprss7 A G 16: 45,481,267 (GRCm39) S640P probably damaging Het
Utp4 G A 8: 107,644,265 (GRCm39) A535T possibly damaging Het
Vmn1r203 A T 13: 22,708,273 (GRCm39) D18V probably benign Het
Vmn2r58 A G 7: 41,522,069 (GRCm39) L9P probably benign Het
Zcchc2 T A 1: 105,957,984 (GRCm39) C420* probably null Het
Zfp804a A G 2: 82,088,934 (GRCm39) D921G probably benign Het
Other mutations in Gatad2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Gatad2a APN 8 70,362,598 (GRCm39) missense possibly damaging 0.94
R1730:Gatad2a UTSW 8 70,362,586 (GRCm39) missense probably damaging 1.00
R1783:Gatad2a UTSW 8 70,362,586 (GRCm39) missense probably damaging 1.00
R1894:Gatad2a UTSW 8 70,369,301 (GRCm39) missense probably damaging 1.00
R1982:Gatad2a UTSW 8 70,365,782 (GRCm39) nonsense probably null
R3762:Gatad2a UTSW 8 70,368,930 (GRCm39) splice site probably null
R5241:Gatad2a UTSW 8 70,370,667 (GRCm39) nonsense probably null
R5532:Gatad2a UTSW 8 70,369,070 (GRCm39) missense probably damaging 1.00
R6664:Gatad2a UTSW 8 70,370,139 (GRCm39) missense probably damaging 1.00
R7036:Gatad2a UTSW 8 70,370,644 (GRCm39) missense probably damaging 1.00
R8993:Gatad2a UTSW 8 70,362,585 (GRCm39) missense probably damaging 1.00
R9480:Gatad2a UTSW 8 70,388,459 (GRCm39) missense probably damaging 1.00
R9571:Gatad2a UTSW 8 70,370,381 (GRCm39) missense probably benign 0.02
R9752:Gatad2a UTSW 8 70,364,839 (GRCm39) missense probably benign 0.01
Z1176:Gatad2a UTSW 8 70,388,688 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AACCTGCCACTGACAGTGTC -3'
(R):5'- GTTAGCTGCCTCTGAGGAAAAG -3'

Sequencing Primer
(F):5'- AGCCTAGGACTCAGGGACATC -3'
(R):5'- TTAGCTGCCTCTGAGGAAAAGAAAAC -3'
Posted On 2016-10-05