Incidental Mutation 'IGL01804:Gbx2'
ID 155612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbx2
Ensembl Gene ENSMUSG00000034486
Gene Name gastrulation brain homeobox 2
Synonyms MMoxA, Stra7, Gbx-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01804
Quality Score
Status
Chromosome 1
Chromosomal Location 89855684-89858898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89856703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 229 (E229G)
Ref Sequence ENSEMBL: ENSMUSP00000048508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036954]
AlphaFold P48031
Predicted Effect probably benign
Transcript: ENSMUST00000036954
AA Change: E229G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: E229G

DomainStartEndE-ValueType
low complexity region 56 82 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
HOX 247 309 7.58e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189763
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with vascular, neurological, skeletal, and craniofacial defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,315,342 (GRCm39) N1860D probably benign Het
Abca2 T A 2: 25,336,637 (GRCm39) C2248S probably damaging Het
Adamts16 G A 13: 70,949,080 (GRCm39) Q194* probably null Het
Cetn3 A T 13: 81,932,779 (GRCm39) K13* probably null Het
Cldn18 T A 9: 99,580,901 (GRCm39) K116* probably null Het
Cntn5 T A 9: 9,831,542 (GRCm39) I613F probably damaging Het
Cyp46a1 A G 12: 108,321,745 (GRCm39) I324V probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dnajc2 A G 5: 21,962,361 (GRCm39) V539A probably damaging Het
Dock2 T A 11: 34,212,433 (GRCm39) Y1236F probably benign Het
Dpf1 T A 7: 29,015,926 (GRCm39) C383S probably damaging Het
Edc4 T A 8: 106,617,289 (GRCm39) I1052N possibly damaging Het
Ehmt1 A G 2: 24,681,966 (GRCm39) L1243P probably damaging Het
Exoc6b A G 6: 84,885,148 (GRCm39) S264P probably damaging Het
Hip1r T A 5: 124,139,613 (GRCm39) probably null Het
Lig1 A G 7: 13,043,131 (GRCm39) K859E probably benign Het
Ly6g6f T C 17: 35,300,146 (GRCm39) D234G possibly damaging Het
Mmp11 G T 10: 75,764,304 (GRCm39) L54I probably benign Het
Naip5 A T 13: 100,358,092 (GRCm39) L1048Q probably damaging Het
Or4c122 C A 2: 89,079,566 (GRCm39) M157I probably benign Het
Or6k14 A G 1: 173,927,401 (GRCm39) I126V probably damaging Het
Or7g12 T A 9: 18,900,136 (GRCm39) M284K probably benign Het
Or8g17 T C 9: 38,930,697 (GRCm39) I47V probably benign Het
Pappa2 T C 1: 158,764,089 (GRCm39) D474G probably benign Het
Plxna1 A G 6: 89,306,628 (GRCm39) Y1401H probably damaging Het
Prrg4 T A 2: 104,663,035 (GRCm39) E190D probably damaging Het
Rnf213 T C 11: 119,333,092 (GRCm39) F2767S probably damaging Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31a A G 5: 100,523,065 (GRCm39) probably null Het
Slc12a4 A G 8: 106,671,033 (GRCm39) S1014P probably damaging Het
Spns2 A T 11: 72,348,130 (GRCm39) I279N possibly damaging Het
Spta1 A T 1: 174,071,746 (GRCm39) H2242L probably benign Het
Tcaf3 T A 6: 42,574,063 (GRCm39) I50F probably damaging Het
Tnfaip8l1 G A 17: 56,479,214 (GRCm39) S168N probably benign Het
Trak1 C T 9: 121,271,751 (GRCm39) probably benign Het
Trpv4 A T 5: 114,782,847 (GRCm39) N38K possibly damaging Het
Ube2o T C 11: 116,435,199 (GRCm39) T530A probably benign Het
Vmn2r2 A G 3: 64,041,677 (GRCm39) V346A possibly damaging Het
Vmn2r86 A C 10: 130,288,858 (GRCm39) D214E probably damaging Het
Wwc1 C A 11: 35,732,751 (GRCm39) D986Y probably damaging Het
Xdh T C 17: 74,199,754 (GRCm39) D1184G probably damaging Het
Other mutations in Gbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Gbx2 APN 1 89,856,559 (GRCm39) missense probably damaging 1.00
IGL02345:Gbx2 APN 1 89,856,698 (GRCm39) missense probably benign 0.00
IGL02370:Gbx2 APN 1 89,856,871 (GRCm39) splice site probably benign
IGL02957:Gbx2 APN 1 89,858,375 (GRCm39) missense probably benign 0.02
IGL02959:Gbx2 APN 1 89,856,517 (GRCm39) missense probably damaging 1.00
R2280:Gbx2 UTSW 1 89,858,359 (GRCm39) missense probably damaging 1.00
R2405:Gbx2 UTSW 1 89,858,630 (GRCm39) start gained probably benign
R2860:Gbx2 UTSW 1 89,856,853 (GRCm39) missense probably damaging 0.97
R2861:Gbx2 UTSW 1 89,856,853 (GRCm39) missense probably damaging 0.97
R5384:Gbx2 UTSW 1 89,856,635 (GRCm39) missense probably damaging 1.00
R5587:Gbx2 UTSW 1 89,860,844 (GRCm39) unclassified probably benign
R5747:Gbx2 UTSW 1 89,856,437 (GRCm39) missense probably damaging 0.98
R5956:Gbx2 UTSW 1 89,860,908 (GRCm39) unclassified probably benign
R6053:Gbx2 UTSW 1 89,858,159 (GRCm39) missense probably benign 0.00
R6633:Gbx2 UTSW 1 89,856,442 (GRCm39) frame shift probably null
R7479:Gbx2 UTSW 1 89,858,373 (GRCm39) missense probably benign 0.02
R7505:Gbx2 UTSW 1 89,856,455 (GRCm39) missense probably benign 0.26
R7768:Gbx2 UTSW 1 89,856,706 (GRCm39) missense probably benign 0.09
R8184:Gbx2 UTSW 1 89,856,550 (GRCm39) missense probably damaging 1.00
R8998:Gbx2 UTSW 1 89,856,745 (GRCm39) missense possibly damaging 0.79
R9599:Gbx2 UTSW 1 89,856,635 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04