Incidental Mutation 'R3619:Gbx1'
ID 268553
Institutional Source Beutler Lab
Gene Symbol Gbx1
Ensembl Gene ENSMUSG00000067724
Gene Name gastrulation brain homeobox 1
Synonyms Gbx-1
MMRRC Submission 040676-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3619 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24709424-24731846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24731111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 235 (P235Q)
Ref Sequence ENSEMBL: ENSMUSP00000085651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088311]
AlphaFold P82976
Predicted Effect probably benign
Transcript: ENSMUST00000088311
AA Change: P235Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724
AA Change: P235Q

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.1%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc82 T A 9: 13,251,931 (GRCm39) D74E probably benign Het
Chmp3 T A 6: 71,554,809 (GRCm39) I168N probably damaging Het
Dazap1 T C 10: 80,121,194 (GRCm39) probably benign Het
Dpp6 T C 5: 27,926,118 (GRCm39) S673P possibly damaging Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
Fgf11 T C 11: 69,690,234 (GRCm39) S118G probably benign Het
Foxi3 T C 6: 70,934,047 (GRCm39) L178P probably damaging Het
Gm8267 A T 14: 44,961,513 (GRCm39) M60K possibly damaging Het
Gnmt G A 17: 47,039,963 (GRCm39) R39C possibly damaging Het
Hnrnpab T C 11: 51,493,438 (GRCm39) N257D possibly damaging Het
Klhl31 G T 9: 77,562,758 (GRCm39) A508S probably benign Het
Lrif1 A G 3: 106,639,862 (GRCm39) K316E probably damaging Het
Magi3 A T 3: 103,961,721 (GRCm39) F436I probably damaging Het
Mef2a G A 7: 66,918,075 (GRCm39) S111L probably benign Het
Micu1 T C 10: 59,604,080 (GRCm39) probably null Het
Mpst A G 15: 78,294,322 (GRCm39) E18G probably damaging Het
Npepps G T 11: 97,139,091 (GRCm39) F160L possibly damaging Het
Or10al2 T A 17: 37,983,531 (GRCm39) F206I probably benign Het
Or5p81 A T 7: 108,267,057 (GRCm39) I145F probably benign Het
Orc6 T C 8: 86,026,623 (GRCm39) probably null Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Pcdh15 T C 10: 74,479,227 (GRCm39) V708A probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plxna1 C A 6: 89,334,435 (GRCm39) A65S probably damaging Het
Ptprt T C 2: 161,408,077 (GRCm39) Y945C probably damaging Het
Pym1 T G 10: 128,601,073 (GRCm39) V31G probably damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tas1r3 C T 4: 155,945,410 (GRCm39) V604I probably damaging Het
Ttc27 G A 17: 75,058,123 (GRCm39) probably null Het
Wfdc6b A T 2: 164,456,826 (GRCm39) Y46F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Other mutations in Gbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Gbx1 APN 5 24,709,874 (GRCm39) missense probably damaging 1.00
IGL03000:Gbx1 APN 5 24,709,924 (GRCm39) missense probably benign 0.09
R2135:Gbx1 UTSW 5 24,731,220 (GRCm39) missense possibly damaging 0.59
R3981:Gbx1 UTSW 5 24,731,213 (GRCm39) missense probably benign
R4817:Gbx1 UTSW 5 24,731,204 (GRCm39) missense probably damaging 0.99
R4896:Gbx1 UTSW 5 24,709,837 (GRCm39) missense probably damaging 1.00
R5004:Gbx1 UTSW 5 24,709,837 (GRCm39) missense probably damaging 1.00
R5422:Gbx1 UTSW 5 24,709,667 (GRCm39) missense possibly damaging 0.90
R6431:Gbx1 UTSW 5 24,709,916 (GRCm39) missense probably benign 0.09
R7080:Gbx1 UTSW 5 24,731,298 (GRCm39) missense probably benign 0.00
R7811:Gbx1 UTSW 5 24,710,035 (GRCm39) missense probably damaging 1.00
R8823:Gbx1 UTSW 5 24,710,051 (GRCm39) missense probably damaging 1.00
R9688:Gbx1 UTSW 5 24,731,510 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGAAACGTACTGCCGGTG -3'
(R):5'- CTGAGCAATACCTTCTGCGC -3'

Sequencing Primer
(F):5'- AAACGTACTGCCGGTGAGACTTC -3'
(R):5'- ATGGTGGCGCTGACCACTG -3'
Posted On 2015-02-19