Incidental Mutation 'IGL02959:Gbx2'
ID365249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbx2
Ensembl Gene ENSMUSG00000034486
Gene Namegastrulation brain homeobox 2
SynonymsGbx-2, Stra7, MMoxA
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02959
Quality Score
Status
Chromosome1
Chromosomal Location89927956-89931179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89928795 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
Ref Sequence ENSEMBL: ENSMUSP00000048508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036954]
Predicted Effect probably damaging
Transcript: ENSMUST00000036954
AA Change: V291A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: V291A

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,567,060 A506D probably benign Het
Agap1 G T 1: 89,843,191 V635L possibly damaging Het
Akr1c12 T C 13: 4,279,332 K9E probably benign Het
Alms1 T A 6: 85,629,052 Y2561* probably null Het
Atm T C 9: 53,471,418 H1957R probably damaging Het
Bcr T C 10: 75,160,390 F922S probably benign Het
Cfap44 T A 16: 44,470,867 probably benign Het
Chil5 A G 3: 106,019,590 V243A probably damaging Het
Csmd1 A G 8: 15,910,465 C3317R probably damaging Het
Dsc1 T C 18: 20,108,885 K133R probably damaging Het
Ecm1 T A 3: 95,737,677 Q136L probably damaging Het
Fscn3 C A 6: 28,435,998 A431E possibly damaging Het
Gas7 C T 11: 67,674,235 probably benign Het
Hipk3 G A 2: 104,471,259 T196M probably damaging Het
Il20ra T A 10: 19,759,041 N343K probably benign Het
Il24 C T 1: 130,885,733 W42* probably null Het
Kif13b A T 14: 64,767,717 I1153F probably damaging Het
Krt2 A T 15: 101,811,328 S636T unknown Het
Olfr1302 T A 2: 111,780,610 C97S probably damaging Het
Olfr215 A T 6: 116,582,544 M134K probably damaging Het
Olfr293 T C 7: 86,664,529 F289S probably damaging Het
Olfr539 C T 7: 140,667,550 P81S probably damaging Het
Olfr739 A T 14: 50,424,932 M138L possibly damaging Het
Osmr T C 15: 6,815,897 D796G possibly damaging Het
Peli2 A T 14: 48,240,297 T99S probably benign Het
Pi4k2a A T 19: 42,113,071 K317N probably benign Het
Pik3r1 T G 13: 101,757,529 D44A probably benign Het
Pkhd1 G T 1: 20,608,416 S96* probably null Het
Plekha5 A G 6: 140,544,178 E9G probably damaging Het
Plekha8 T C 6: 54,615,269 F71S probably damaging Het
Polq G T 16: 37,086,566 L2296F probably damaging Het
Rbm5 G A 9: 107,754,185 probably benign Het
Rc3h2 T C 2: 37,405,354 K217E probably damaging Het
Scrib A G 15: 76,065,207 L350P probably damaging Het
Slc4a10 T A 2: 62,268,143 S540R probably damaging Het
Smc3 G T 19: 53,623,557 V354L probably benign Het
Smurf1 T A 5: 144,899,389 I105F probably damaging Het
Stx7 G T 10: 24,155,349 R17L probably benign Het
Tbca C T 13: 94,842,695 R74C probably benign Het
Tmem92 T C 11: 94,778,678 Q153R possibly damaging Het
Trim41 C A 11: 48,807,480 G553V probably damaging Het
Trim75 A T 8: 64,982,765 N344K possibly damaging Het
Tsr1 A G 11: 74,900,249 D218G probably benign Het
Ubr2 A C 17: 46,975,951 V474G probably damaging Het
Unc45a T G 7: 80,332,973 probably benign Het
Zfp609 C T 9: 65,703,393 A763T probably benign Het
Other mutations in Gbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Gbx2 APN 1 89928837 missense probably damaging 1.00
IGL01804:Gbx2 APN 1 89928981 missense probably benign 0.00
IGL02345:Gbx2 APN 1 89928976 missense probably benign 0.00
IGL02370:Gbx2 APN 1 89929149 splice site probably benign
IGL02957:Gbx2 APN 1 89930653 missense probably benign 0.02
R2280:Gbx2 UTSW 1 89930637 missense probably damaging 1.00
R2405:Gbx2 UTSW 1 89930908 start gained probably benign
R2860:Gbx2 UTSW 1 89929131 missense probably damaging 0.97
R2861:Gbx2 UTSW 1 89929131 missense probably damaging 0.97
R5384:Gbx2 UTSW 1 89928913 missense probably damaging 1.00
R5587:Gbx2 UTSW 1 89933122 unclassified probably benign
R5747:Gbx2 UTSW 1 89928715 missense probably damaging 0.98
R5956:Gbx2 UTSW 1 89933186 unclassified probably benign
R6053:Gbx2 UTSW 1 89930437 missense probably benign 0.00
R6633:Gbx2 UTSW 1 89928720 frame shift probably null
R7479:Gbx2 UTSW 1 89930651 missense probably benign 0.02
R7505:Gbx2 UTSW 1 89928733 missense probably benign 0.26
R7768:Gbx2 UTSW 1 89928984 missense probably benign 0.09
R8184:Gbx2 UTSW 1 89928828 missense probably damaging 1.00
Posted On2015-12-18