Incidental Mutation 'IGL02370:Gbx2'
ID 290912
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 # IGL02370
Quality Score
Status
Chromosome 1
Chromosomal Location 89855684-89858898 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 89856871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036954]
AlphaFold P48031
Predicted Effect probably benign
Transcript: ENSMUST00000036954
SMART Domains Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486

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
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Clec12a C T 6: 129,331,539 (GRCm39) A160V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exoc3 A T 13: 74,340,880 (GRCm39) V308D probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Hnf1b A C 11: 83,773,559 (GRCm39) T253P possibly damaging Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Itih5 A T 2: 10,191,786 (GRCm39) Y107F probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rcn3 T C 7: 44,732,757 (GRCm39) S304G probably benign Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign Het
Other mutations in Gbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Gbx2 APN 1 89,856,559 (GRCm39) missense probably damaging 1.00
IGL01804:Gbx2 APN 1 89,856,703 (GRCm39) missense probably benign 0.00
IGL02345:Gbx2 APN 1 89,856,698 (GRCm39) missense probably benign 0.00
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 2015-04-16