Incidental Mutation 'IGL02345:Gbx2'
ID289245
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 #IGL02345
Quality Score
Status
Chromosome1
Chromosomal Location89927956-89931179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89928976 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 231 (T231A)
Ref Sequence ENSEMBL: ENSMUSP00000048508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036954]
Predicted Effect probably benign
Transcript: ENSMUST00000036954
AA Change: T231A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: T231A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,396,351 D177Y possibly damaging Het
Casc3 T C 11: 98,827,564 probably benign Het
Cnga1 C T 5: 72,605,272 V300I probably benign Het
Dcun1d4 A G 5: 73,511,152 D41G probably damaging Het
Dnm1l T C 16: 16,329,894 S181G possibly damaging Het
Dyrk1a T G 16: 94,671,362 S242A possibly damaging Het
Fcgbp T A 7: 28,071,643 probably benign Het
Fibcd1 T C 2: 31,816,592 Y409C probably damaging Het
Fig4 A T 10: 41,267,774 W230R probably null Het
Flt1 T C 5: 147,582,626 S960G probably benign Het
Fyb A G 15: 6,619,662 S390G possibly damaging Het
Gm16432 G A 1: 178,015,188 V60I possibly damaging Het
Gm5852 T A 3: 93,727,748 noncoding transcript Het
Lmo7 T C 14: 101,887,473 V456A probably damaging Het
Mark3 A G 12: 111,627,107 N191S probably damaging Het
Olfr871 C A 9: 20,213,018 S223Y possibly damaging Het
Pik3c2a C T 7: 116,405,891 E381K probably damaging Het
Pik3r5 A G 11: 68,492,726 D457G probably benign Het
Plcg2 T C 8: 117,585,180 S404P probably damaging Het
Prr16 T C 18: 51,303,229 F260S probably damaging Het
Psd4 T C 2: 24,401,823 probably null Het
Ptgs1 A G 2: 36,242,971 D327G probably null Het
Rgsl1 C T 1: 153,804,009 probably null Het
Spg20 T A 3: 55,117,726 probably null Het
Sugp1 A G 8: 70,043,084 probably benign Het
Tubgcp3 A T 8: 12,625,056 I713N probably damaging Het
Usp19 A G 9: 108,493,858 T240A probably benign Het
Vash2 A G 1: 190,978,215 V81A probably benign Het
Vmn2r41 T G 7: 8,138,768 N566H probably damaging Het
Wdr31 A G 4: 62,458,846 I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 V1272I possibly damaging Het
Zfp638 C T 6: 83,984,875 R1899C probably damaging 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
IGL02370:Gbx2 APN 1 89929149 splice site probably benign
IGL02957:Gbx2 APN 1 89930653 missense probably benign 0.02
IGL02959:Gbx2 APN 1 89928795 missense probably damaging 1.00
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 On2015-04-16