Incidental Mutation 'IGL02113:Gbx1'
ID280241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbx1
Ensembl Gene ENSMUSG00000067724
Gene Namegastrulation brain homeobox 1
SynonymsGbx-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02113
Quality Score
Status
Chromosome5
Chromosomal Location24502757-24527202 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24504876 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 324 (T324A)
Ref Sequence ENSEMBL: ENSMUSP00000085651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000088311]
Predicted Effect probably benign
Transcript: ENSMUST00000024123
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353

DomainStartEndE-ValueType
low complexity region 4 59 N/A INTRINSIC
Pfam:Ras 128 286 1.2e-18 PFAM
low complexity region 328 345 N/A INTRINSIC
PH 403 642 2.76e-16 SMART
ArfGap 661 781 9.17e-51 SMART
ANK 820 849 2.43e1 SMART
ANK 853 885 9.17e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088311
AA Change: T324A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
AA Change: T324A

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 64 83 N/A INTRINSIC
low complexity region 113 136 N/A INTRINSIC
low complexity region 181 191 N/A INTRINSIC
low complexity region 257 296 N/A INTRINSIC
low complexity region 302 314 N/A INTRINSIC
HOX 316 378 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197513
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for null alleles exhibit abnormal locomotor behavior affecting hindlimbs and neuron abnormalities. Neuronal abnormalities have been reported in some mice for motor neurons and GABAergic neurons and for proprioceptive sensory axons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Gbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03000:Gbx1 APN 5 24504926 missense probably benign 0.09
R2135:Gbx1 UTSW 5 24526222 missense possibly damaging 0.59
R3619:Gbx1 UTSW 5 24526113 missense probably benign 0.01
R3981:Gbx1 UTSW 5 24526215 missense probably benign
R4817:Gbx1 UTSW 5 24526206 missense probably damaging 0.99
R4896:Gbx1 UTSW 5 24504839 missense probably damaging 1.00
R5004:Gbx1 UTSW 5 24504839 missense probably damaging 1.00
R5422:Gbx1 UTSW 5 24504669 missense possibly damaging 0.90
R6431:Gbx1 UTSW 5 24504918 missense probably benign 0.09
R7080:Gbx1 UTSW 5 24526300 missense probably benign 0.00
Posted On2015-04-16