Incidental Mutation 'R1894:Gatad2a'
ID 211807
Institutional Source Beutler Lab
Gene Symbol Gatad2a
Ensembl Gene ENSMUSG00000036180
Gene Name GATA zinc finger domain containing 2A
Synonyms 1110066C11Rik
MMRRC Submission 039914-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1894 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 70359726-70449034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70369301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 221 (R221Q)
Ref Sequence ENSEMBL: ENSMUSP00000148474 (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: R221Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: R221Q

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 probably damaging
Transcript: ENSMUST00000116463
AA Change: R221Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: R221Q

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: ENSMUST00000177851
AA Change: R221Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: R221Q

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 benign
Transcript: ENSMUST00000211960
Predicted Effect probably benign
Transcript: ENSMUST00000212277
Predicted Effect probably damaging
Transcript: ENSMUST00000212478
AA Change: R221Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Ago4 A G 4: 126,406,393 (GRCm39) Y306H probably benign Het
Cblc T C 7: 19,526,502 (GRCm39) T196A probably damaging Het
Cfap52 T A 11: 67,844,445 (GRCm39) probably null Het
Cops3 T C 11: 59,710,844 (GRCm39) N375S probably benign Het
Crb1 T C 1: 139,170,931 (GRCm39) T759A probably benign Het
Dnah3 T C 7: 119,685,557 (GRCm39) K153E probably benign Het
Elovl1 C T 4: 118,287,945 (GRCm39) S27F probably damaging Het
Erc2 A G 14: 27,863,185 (GRCm39) E804G probably damaging Het
Fam110b G T 4: 5,798,840 (GRCm39) C86F probably damaging Het
Fbn1 T A 2: 125,236,541 (GRCm39) R380W probably damaging Het
Gcn1 C T 5: 115,727,174 (GRCm39) P677L probably damaging Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Gm9817 T C 13: 45,232,605 (GRCm39) V136A unknown Het
Gmip T A 8: 70,273,622 (GRCm39) L971H probably damaging Het
Gnptab G A 10: 88,254,989 (GRCm39) E192K possibly damaging Het
Grm7 G A 6: 111,335,568 (GRCm39) V660I probably benign Het
Helz2 G A 2: 180,876,082 (GRCm39) P1471S probably damaging Het
Herc1 G A 9: 66,386,743 (GRCm39) G3786S probably damaging Het
Isg20 T C 7: 78,569,647 (GRCm39) V206A probably benign Het
Jund T A 8: 71,152,470 (GRCm39) I255N probably damaging Het
Kcnt2 A T 1: 140,353,079 (GRCm39) I263F probably damaging Het
Kif2c A T 4: 117,019,420 (GRCm39) L561Q probably benign Het
Klhl3 T C 13: 58,157,189 (GRCm39) D546G probably damaging Het
Klk1b4 A T 7: 43,859,054 (GRCm39) Q24L probably benign Het
Ltbp2 A T 12: 84,834,735 (GRCm39) C225S probably damaging Het
Mcub T C 3: 129,728,312 (GRCm39) H55R probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Med18 G A 4: 132,187,242 (GRCm39) R86* probably null Het
Mfsd2b T C 12: 4,919,155 (GRCm39) E63G probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Nfrkb T A 9: 31,326,064 (GRCm39) V1169E probably benign Het
Nr2f2 T A 7: 70,004,419 (GRCm39) M411L probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nup214 A T 2: 31,886,392 (GRCm39) T585S possibly damaging Het
Or5m13 C T 2: 85,748,599 (GRCm39) T110I probably benign Het
Or6c214 A T 10: 129,590,943 (GRCm39) C125* probably null Het
Or7e177 T C 9: 20,211,633 (GRCm39) S47P probably benign Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pih1d1 T A 7: 44,807,165 (GRCm39) I166N probably damaging Het
Prl2c5 T C 13: 13,366,263 (GRCm39) F181L probably benign Het
Prx C T 7: 27,218,535 (GRCm39) T1012I possibly damaging Het
Rassf8 T A 6: 145,754,199 (GRCm39) V5E probably damaging Het
Rassf9 C A 10: 102,380,755 (GRCm39) R44S possibly damaging Het
Relch A T 1: 105,592,301 (GRCm39) I157F probably benign Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Sec16b T A 1: 157,380,545 (GRCm39) M372K possibly damaging Het
Sgcd A T 11: 47,085,937 (GRCm39) I71N probably damaging Het
Slco5a1 C T 1: 12,942,483 (GRCm39) C721Y probably damaging Het
Slx4ip A T 2: 136,910,038 (GRCm39) K344N probably benign Het
Sorcs3 A T 19: 48,782,713 (GRCm39) Q1076L probably benign Het
Spata21 A T 4: 140,838,692 (GRCm39) N581I possibly damaging Het
Spata31d1d G T 13: 59,875,936 (GRCm39) P533H probably benign Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Tex14 T G 11: 87,365,274 (GRCm39) F61V probably damaging Het
Timp3 C T 10: 86,181,716 (GRCm39) R196* probably null Het
Tll2 A G 19: 41,077,110 (GRCm39) probably null Het
Tppp A G 13: 74,169,326 (GRCm39) D22G possibly damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Uaca T C 9: 60,777,718 (GRCm39) S702P possibly damaging Het
Uggt2 T C 14: 119,287,130 (GRCm39) E146G probably damaging Het
Vmn1r233 T C 17: 21,213,994 (GRCm39) S319G probably benign Het
Wdr47 A T 3: 108,530,692 (GRCm39) Q395L possibly damaging Het
Wrnip1 A G 13: 32,989,319 (GRCm39) probably null Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging 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
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
R5526:Gatad2a UTSW 8 70,388,591 (GRCm39) missense probably damaging 1.00
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'- CGTAGAGGAATGCTGTCTGATG -3'
(R):5'- AAAGCTGGCAGTTCCATCCC -3'

Sequencing Primer
(F):5'- AATGCTGTCTGATGTTGTGAATC -3'
(R):5'- AAGCTGGCAGTTCCATCCCTATTAC -3'
Posted On 2014-06-30