Incidental Mutation 'R8445:Lbx1'
ID 654475
Institutional Source Beutler Lab
Gene Symbol Lbx1
Ensembl Gene ENSMUSG00000025216
Gene Name ladybird homeobox 1
Synonyms Lbx1h
MMRRC Submission 067886-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # R8445 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 45221123-45224251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45222651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 124 (K124I)
Ref Sequence ENSEMBL: ENSMUSP00000096997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099401]
AlphaFold P52955
Predicted Effect probably damaging
Transcript: ENSMUST00000099401
AA Change: K124I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096997
Gene: ENSMUSG00000025216
AA Change: K124I

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 T G 9: 70,674,203 (GRCm39) S522A probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alg12 C T 15: 88,698,689 (GRCm39) R212Q probably benign Het
C330018D20Rik G A 18: 57,090,962 (GRCm39) P67L probably damaging Het
Col3a1 C T 1: 45,380,340 (GRCm39) R955* probably null Het
Cyp2j12 T A 4: 96,021,259 (GRCm39) I116F possibly damaging Het
Cyp4a10 T A 4: 115,382,791 (GRCm39) W331R probably damaging Het
Dmbt1 T A 7: 130,692,110 (GRCm39) Y959N unknown Het
Dytn T A 1: 63,686,673 (GRCm39) K332N probably benign Het
E130308A19Rik T A 4: 59,720,526 (GRCm39) V686D probably damaging Het
Epha8 T C 4: 136,659,600 (GRCm39) Y792C probably benign Het
Fam53c T C 18: 34,901,368 (GRCm39) V95A probably benign Het
Fbxl4 C A 4: 22,385,983 (GRCm39) Q197K probably benign Het
Fmod G A 1: 133,968,736 (GRCm39) V259I probably benign Het
Insrr T C 3: 87,720,891 (GRCm39) S1050P probably damaging Het
Itga4 A G 2: 79,112,125 (GRCm39) M347V probably benign Het
Kdm5d A G Y: 916,874 (GRCm39) E423G probably damaging Het
Klra7 A T 6: 130,204,078 (GRCm39) I147N possibly damaging Het
Map4k5 T A 12: 69,897,741 (GRCm39) H138L probably damaging Het
Mc3r A G 2: 172,091,237 (GRCm39) H153R probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nfatc4 A C 14: 56,063,875 (GRCm39) I121L possibly damaging Het
Nipa1 A T 7: 55,629,466 (GRCm39) S216T probably benign Het
Nlrp4e A T 7: 23,039,965 (GRCm39) I763L probably benign Het
Nop2 A G 6: 125,111,567 (GRCm39) D100G probably benign Het
Or2a52 A G 6: 43,144,231 (GRCm39) M80V probably benign Het
Or8b12i T A 9: 20,082,394 (GRCm39) I158L probably benign Het
Prelid3a A G 18: 67,606,848 (GRCm39) E80G probably damaging Het
Prl4a1 T C 13: 28,205,445 (GRCm39) S137P possibly damaging Het
Rbpms2 C T 9: 65,558,303 (GRCm39) A113V possibly damaging Het
Rph3a T C 5: 121,111,433 (GRCm39) E49G probably damaging Het
Shisa7 A T 7: 4,839,352 (GRCm39) M124K probably benign Het
Shprh C T 10: 11,057,313 (GRCm39) P1078S possibly damaging Het
Slc30a7 C T 3: 115,800,995 (GRCm39) probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Smg1 A C 7: 117,736,200 (GRCm39) N3563K possibly damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
St6galnac6 A G 2: 32,498,532 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,512,278 (GRCm39) E451D probably benign Het
Tfpt G A 7: 3,623,928 (GRCm39) P160S probably damaging Het
Thbs4 C A 13: 92,927,349 (GRCm39) A47S probably benign Het
Trpm2 T C 10: 77,746,086 (GRCm39) D1482G probably damaging Het
Tspyl4 C T 10: 34,173,742 (GRCm39) A78V probably benign Het
Vmn2r26 A G 6: 124,002,995 (GRCm39) N135S probably damaging Het
Vmn2r87 A T 10: 130,313,335 (GRCm39) V477E probably damaging Het
Wdr89 T C 12: 75,679,636 (GRCm39) D206G probably damaging Het
Zfp623 C A 15: 75,819,402 (GRCm39) Y119* probably null Het
Zfp879 A G 11: 50,724,213 (GRCm39) M281T probably damaging Het
Zfp952 T G 17: 33,222,552 (GRCm39) F344V possibly damaging Het
Zgrf1 T C 3: 127,379,854 (GRCm39) probably null Het
Other mutations in Lbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Lbx1 APN 19 45,222,670 (GRCm39) missense probably benign 0.09
IGL01746:Lbx1 APN 19 45,222,214 (GRCm39) missense possibly damaging 0.85
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
R8865:Lbx1 UTSW 19 45,223,605 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TTCTTGGCAGACTCCACGTC -3'
(R):5'- TTGCTCAGGTTTAGAGAGTGGAATC -3'

Sequencing Primer
(F):5'- CTAGGTCCCGCTTGAGCTTG -3'
(R):5'- CAGGTTTAGAGAGTGGAATCGAATTG -3'
Posted On 2020-10-20