Incidental Mutation 'IGL01746:Lbx1'
ID 153022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lbx1
Ensembl Gene ENSMUSG00000025216
Gene Name ladybird homeobox 1
Synonyms Lbx1h
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # IGL01746
Quality Score
Status
Chromosome 19
Chromosomal Location 45221123-45224251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45222214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 270 (S270T)
Ref Sequence ENSEMBL: ENSMUSP00000096997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099401]
AlphaFold P52955
Predicted Effect possibly damaging
Transcript: ENSMUST00000099401
AA Change: S270T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096997
Gene: ENSMUSG00000025216
AA Change: S270T

DomainStartEndE-ValueType
low complexity region 56 79 N/A INTRINSIC
HOX 125 187 4.93e-26 SMART
low complexity region 219 227 N/A INTRINSIC
low complexity region 233 259 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,982,276 (GRCm39) M1187V possibly damaging Het
Ctsm T C 13: 61,687,630 (GRCm39) E76G probably benign Het
Ctsm T C 13: 61,686,717 (GRCm39) probably benign Het
Egfl8 T C 17: 34,833,890 (GRCm39) T63A probably damaging Het
Fat4 T A 3: 39,045,880 (GRCm39) C3966* probably null Het
Fsd2 T C 7: 81,202,755 (GRCm39) T275A probably benign Het
Fyb2 A T 4: 104,802,404 (GRCm39) H102L probably benign Het
Galnt9 T C 5: 110,736,188 (GRCm39) I168T probably damaging Het
Hc A G 2: 34,947,338 (GRCm39) Y59H probably damaging Het
Khnyn T C 14: 56,124,439 (GRCm39) V231A probably benign Het
Larp4b T A 13: 9,208,160 (GRCm39) V378E probably damaging Het
Mcm6 G A 1: 128,281,261 (GRCm39) R101* probably null Het
Mcph1 T C 8: 18,721,143 (GRCm39) L657P probably damaging Het
Ndst2 G T 14: 20,779,482 (GRCm39) P253T probably benign Het
Nek4 G A 14: 30,699,541 (GRCm39) probably null Het
Nsd1 T A 13: 55,424,328 (GRCm39) probably null Het
Oc90 A G 15: 65,761,250 (GRCm39) probably benign Het
Plcl2 T A 17: 50,914,724 (GRCm39) S578T probably benign Het
Ranbp3l T A 15: 9,063,167 (GRCm39) C325* probably null Het
Rps19bp1 T C 15: 80,145,198 (GRCm39) Y140C probably damaging Het
Sec62 T A 3: 30,868,395 (GRCm39) I208K probably benign Het
Slc25a48 T A 13: 56,618,166 (GRCm39) F268I probably damaging Het
Slc35e3 T C 10: 117,580,807 (GRCm39) T166A possibly damaging Het
Tmem253 G A 14: 52,254,614 (GRCm39) W23* probably null Het
Tmem97 T C 11: 78,433,586 (GRCm39) Y103C probably damaging Het
Traf6 A G 2: 101,527,237 (GRCm39) E329G possibly damaging Het
Ttll12 A G 15: 83,462,877 (GRCm39) F530L probably damaging Het
Ugt3a1 C T 15: 9,361,754 (GRCm39) P177S probably damaging Het
Veph1 T C 3: 66,065,508 (GRCm39) T520A probably benign Het
Vmn2r98 T A 17: 19,286,713 (GRCm39) Y404N probably damaging Het
Other mutations in Lbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Lbx1 APN 19 45,222,670 (GRCm39) missense probably benign 0.09
IGL01917:Lbx1 APN 19 45,222,652 (GRCm39) nonsense probably null
purgatory UTSW 19 45,223,390 (GRCm39) missense probably damaging 1.00
R1744:Lbx1 UTSW 19 45,222,652 (GRCm39) missense probably damaging 0.99
R4276:Lbx1 UTSW 19 45,223,528 (GRCm39) missense probably benign 0.02
R5599:Lbx1 UTSW 19 45,223,519 (GRCm39) missense probably damaging 1.00
R6869:Lbx1 UTSW 19 45,223,390 (GRCm39) missense probably damaging 1.00
R7570:Lbx1 UTSW 19 45,223,687 (GRCm39) start gained probably benign
R8218:Lbx1 UTSW 19 45,223,359 (GRCm39) missense probably benign 0.24
R8445:Lbx1 UTSW 19 45,222,651 (GRCm39) missense probably damaging 1.00
R8865:Lbx1 UTSW 19 45,223,605 (GRCm39) missense probably benign 0.36
Posted On 2014-02-04