Incidental Mutation 'IGL03000:Gbx1'
ID407271
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 #IGL03000
Quality Score
Status
Chromosome5
Chromosomal Location24502757-24527202 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24504926 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 307 (T307K)
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 benign
Transcript: ENSMUST00000088311
AA Change: T307K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
AA Change: T307K

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,321,800 S445G probably benign Het
Abca5 C T 11: 110,317,814 V226I probably benign Het
Ankrd34c A T 9: 89,729,186 D367E probably benign Het
Bmp6 G T 13: 38,498,911 probably benign Het
Cacna2d2 T C 9: 107,524,198 probably null Het
Cblb T G 16: 52,204,542 D933E probably damaging Het
Ccny A G 18: 9,353,489 S95P probably benign Het
Cep192 A G 18: 67,852,044 I1658V probably damaging Het
Cntn6 A T 6: 104,804,386 T478S probably damaging Het
Cpne7 T C 8: 123,126,696 F247L probably benign Het
Csf1r A G 18: 61,109,652 E29G probably damaging Het
Dctn3 T A 4: 41,719,912 I65F possibly damaging Het
Dock1 A G 7: 134,789,240 E743G probably benign Het
Dus2 C A 8: 106,048,684 T281N probably damaging Het
Gtf2ird2 A T 5: 134,194,906 N93I probably benign Het
Heatr1 A G 13: 12,434,411 D1930G probably damaging Het
Hif3a T C 7: 17,048,639 I334V probably benign Het
Ints1 G T 5: 139,766,506 N756K probably benign Het
Kcnn2 T C 18: 45,560,568 F404L probably damaging Het
Kmt2c G A 5: 25,284,172 R4590W probably damaging Het
Limk1 A T 5: 134,670,501 V134E probably damaging Het
Mep1a A G 17: 43,474,990 V736A probably benign Het
Mex3a T A 3: 88,536,295 I226N probably damaging Het
Mgl2 A T 11: 70,134,200 K16* probably null Het
Mms22l G T 4: 24,581,161 V864L probably damaging Het
Mroh4 T A 15: 74,616,114 M320L probably benign Het
Mylk3 G A 8: 85,359,177 P243S probably damaging Het
Nbea A C 3: 56,004,627 D1246E possibly damaging Het
Ndnf A G 6: 65,703,315 T193A possibly damaging Het
Nfasc T C 1: 132,621,509 probably benign Het
Olfr421-ps1 A G 1: 174,151,560 T15A probably benign Het
Ptprq A T 10: 107,542,657 F2008I probably damaging Het
Rhag A G 17: 40,828,522 K116R probably benign Het
Rictor T A 15: 6,769,240 probably benign Het
Slc35f5 C A 1: 125,574,742 T277N probably damaging Het
Sorcs2 A G 5: 36,065,331 probably benign Het
Ssh2 T A 11: 77,421,206 probably benign Het
Togaram2 T C 17: 71,717,370 S830P probably benign Het
Trim30d T C 7: 104,473,269 T112A probably benign Het
Ttc34 T C 4: 154,865,431 V947A probably damaging Het
Ttn A G 2: 76,812,609 probably benign Het
Ubr5 A T 15: 38,024,852 V560D probably damaging Het
Ush2a A T 1: 188,549,856 E1856V possibly damaging Het
Zfp142 T C 1: 74,573,618 M457V probably benign Het
Zfp711 C T X: 112,624,858 Q137* probably null Het
Zkscan17 T C 11: 59,487,160 Y399C probably damaging Het
Zswim6 T G 13: 107,727,114 noncoding transcript Het
Zswim6 T A 13: 107,727,115 noncoding transcript Het
Other mutations in Gbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Gbx1 APN 5 24504876 missense probably damaging 1.00
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
R7811:Gbx1 UTSW 5 24505037 missense probably damaging 1.00
Posted On2016-08-02