Incidental Mutation 'R8254:Lmx1b'
ID 640633
Institutional Source Beutler Lab
Gene Symbol Lmx1b
Ensembl Gene ENSMUSG00000038765
Gene Name LIM homeobox transcription factor 1 beta
Synonyms GENA 191, LMX1.2, Icst
MMRRC Submission 067680-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.908) question?
Stock # R8254 (G1)
Quality Score 175.009
Status Validated
Chromosome 2
Chromosomal Location 33450977-33530620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33455126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 310 (F310S)
Ref Sequence ENSEMBL: ENSMUSP00000043616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041730]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000043616
Gene: ENSMUSG00000038765
AA Change: F310S

DomainStartEndE-ValueType
LIM 32 83 4.48e-17 SMART
LIM 91 145 5.51e-17 SMART
low complexity region 151 172 N/A INTRINSIC
HOX 196 258 1.51e-21 SMART
low complexity region 259 272 N/A INTRINSIC
low complexity region 328 340 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000134944
Gene: ENSMUSG00000038765
AA Change: F299S

DomainStartEndE-ValueType
LIM 1 38 2.23e-3 SMART
LIM 46 100 5.51e-17 SMART
low complexity region 106 127 N/A INTRINSIC
HOX 151 213 1.51e-21 SMART
low complexity region 214 227 N/A INTRINSIC
low complexity region 290 302 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,760 (GRCm39) Y236C probably benign Het
Arhgef2 T C 3: 88,549,910 (GRCm39) L655P probably damaging Het
Brsk2 T C 7: 141,538,153 (GRCm39) S100P probably damaging Het
Calb1 A G 4: 15,898,926 (GRCm39) T141A probably benign Het
Cog6 T C 3: 52,900,938 (GRCm39) T447A probably benign Het
Cyp4f13 A T 17: 33,148,907 (GRCm39) N279K probably benign Het
Dnah11 T C 12: 117,842,259 (GRCm39) D4440G possibly damaging Het
Dspp A T 5: 104,323,194 (GRCm39) E112D possibly damaging Het
Fam3c T A 6: 22,328,675 (GRCm39) T71S possibly damaging Het
Fcgbpl1 T C 7: 27,846,774 (GRCm39) V1119A possibly damaging Het
Fdxr C A 11: 115,162,144 (GRCm39) G188W probably damaging Het
Fndc5 T C 4: 129,032,514 (GRCm39) V39A possibly damaging Het
Gm14226 T C 2: 154,866,646 (GRCm39) I201T possibly damaging Het
Grip1 C T 10: 119,890,810 (GRCm39) Q950* probably null Het
Haspin A T 11: 73,027,572 (GRCm39) Y506N probably benign Het
Itga2b C A 11: 102,358,212 (GRCm39) R171L probably benign Het
Kctd2 C T 11: 115,311,174 (GRCm39) P61S unknown Het
Kirrel2 A G 7: 30,149,801 (GRCm39) probably null Het
Ldc1 C A 4: 130,114,136 (GRCm39) A94S probably benign Het
Map4k4 A T 1: 40,045,835 (GRCm39) I574F probably damaging Het
Nrip1 T C 16: 76,088,287 (GRCm39) K1090R probably benign Het
Ntrk3 T C 7: 77,842,326 (GRCm39) Y820C probably damaging Het
Or5ac25 T A 16: 59,182,534 (GRCm39) I16L probably benign Het
Or5b96 T C 19: 12,867,849 (GRCm39) T31A probably benign Het
Pcdhb11 T C 18: 37,555,242 (GRCm39) Y191H probably benign Het
Pgm5 T C 19: 24,705,089 (GRCm39) K475E probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psd4 A T 2: 24,293,223 (GRCm39) D696V probably damaging Het
Rere T C 4: 150,697,129 (GRCm39) F556L unknown Het
Sema4f A T 6: 82,894,382 (GRCm39) C528S probably damaging Het
Sorcs2 A G 5: 36,195,550 (GRCm39) S680P probably benign Het
Sv2c T C 13: 96,225,073 (GRCm39) T79A probably damaging Het
Tars3 A G 7: 65,325,809 (GRCm39) N461S probably benign Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tubd1 A T 11: 86,440,264 (GRCm39) Q96L probably damaging Het
Vmn2r72 T C 7: 85,400,227 (GRCm39) D274G probably damaging Het
Vps13d A T 4: 144,709,882 (GRCm39) probably benign Het
Vwce C A 19: 10,627,938 (GRCm39) S466Y probably damaging Het
Wdr11 T C 7: 129,236,560 (GRCm39) I1178T probably benign Het
Zfp568 A T 7: 29,714,558 (GRCm39) H145L probably benign Het
Zfp606 T C 7: 12,226,788 (GRCm39) I303T possibly damaging Het
Zfp846 A G 9: 20,504,587 (GRCm39) D149G probably benign Het
Other mutations in Lmx1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Lmx1b APN 2 33,529,510 (GRCm39) missense possibly damaging 0.95
IGL01583:Lmx1b APN 2 33,459,071 (GRCm39) missense probably benign 0.04
IGL02885:Lmx1b APN 2 33,457,216 (GRCm39) missense probably benign 0.10
R1926:Lmx1b UTSW 2 33,454,674 (GRCm39) missense probably damaging 1.00
R3056:Lmx1b UTSW 2 33,457,297 (GRCm39) nonsense probably null
R3522:Lmx1b UTSW 2 33,529,543 (GRCm39) missense probably benign 0.01
R3957:Lmx1b UTSW 2 33,459,106 (GRCm39) missense probably damaging 0.99
R4888:Lmx1b UTSW 2 33,454,802 (GRCm39) missense probably benign 0.01
R6115:Lmx1b UTSW 2 33,459,118 (GRCm39) missense probably damaging 0.96
R8787:Lmx1b UTSW 2 33,529,522 (GRCm39) missense
RF032:Lmx1b UTSW 2 33,530,501 (GRCm39) nonsense probably null
RF035:Lmx1b UTSW 2 33,530,501 (GRCm39) nonsense probably null
RF038:Lmx1b UTSW 2 33,530,521 (GRCm39) start codon destroyed probably null
RF043:Lmx1b UTSW 2 33,530,521 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- AGATGGAGTCGTTCCCTGTG -3'
(R):5'- TCTCTGGGGAAGAAATGTCGG -3'

Sequencing Primer
(F):5'- CATCAGGAGCTGGGTGTGACTC -3'
(R):5'- ACCAGGGGGATTTCTGCAG -3'
Posted On 2020-07-28