Incidental Mutation 'IGL02624:Lmx1a'
ID301012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmx1a
Ensembl Gene ENSMUSG00000026686
Gene NameLIM homeobox transcription factor 1 alpha
Synonymsshaker short-tail, Lmx1.1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.829) question?
Stock #IGL02624
Quality Score
Status
Chromosome1
Chromosomal Location167689237-167848741 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 167844623 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028003] [ENSMUST00000111377]
Predicted Effect probably benign
Transcript: ENSMUST00000028003
SMART Domains Protein: ENSMUSP00000028003
Gene: ENSMUSG00000026686

DomainStartEndE-ValueType
LIM 34 85 2.87e-15 SMART
LIM 93 147 3.39e-17 SMART
HOX 195 257 2.62e-21 SMART
low complexity region 337 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111377
SMART Domains Protein: ENSMUSP00000107008
Gene: ENSMUSG00000026686

DomainStartEndE-ValueType
LIM 34 85 2.87e-15 SMART
LIM 93 147 3.39e-17 SMART
HOX 195 257 2.62e-21 SMART
low complexity region 337 350 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 encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mutations in the dreher locus produce neurological and skeletal abnormalities, inner ear defects, and belly spotting. Deafness and hypoplasia of Mullerian duct derivatives are also reported for some alleles. Homozygous null mice have fewer dopaminergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,027,193 V38A unknown Het
Armc8 T C 9: 99,527,069 probably benign Het
Brk1 T G 6: 113,604,844 I22M possibly damaging Het
Cd3g A G 9: 44,974,161 probably null Het
Cep192 T C 18: 67,880,795 V2422A probably benign Het
Ces2g T C 8: 104,964,748 V172A probably damaging Het
Clcn2 G T 16: 20,703,348 S830R probably damaging Het
Cyp26b1 T C 6: 84,584,339 S114G probably benign Het
Dnali1 T C 4: 125,058,998 Q244R probably benign Het
Entpd1 A T 19: 40,726,058 K204* probably null Het
Gm5070 A G 3: 95,410,908 noncoding transcript Het
Gpsm2 G T 3: 108,682,033 D596E probably benign Het
Hectd1 C T 12: 51,762,450 A1743T possibly damaging Het
Kcnq5 T G 1: 21,402,430 L845F probably benign Het
Lrp1 A T 10: 127,572,422 I1795N probably damaging Het
Lsp1 C T 7: 142,490,551 probably benign Het
Mcm6 C T 1: 128,349,448 A213T possibly damaging Het
Mylk G T 16: 34,929,896 V1202L probably benign Het
Myo5b T C 18: 74,714,939 Y1083H probably damaging Het
Ncoa5 T A 2: 165,013,061 D47V probably damaging Het
Npat C T 9: 53,566,810 T954I probably damaging Het
Olfr1367 A G 13: 21,347,512 T195A probably benign Het
Olfr491 A T 7: 108,316,923 T10S probably benign Het
Pfkm T C 15: 98,126,395 I428T probably benign Het
Rai1 T C 11: 60,188,743 F1211S probably damaging Het
Reln T C 5: 22,103,357 E338G probably benign Het
Tbx18 T C 9: 87,727,406 Y192C probably damaging Het
Tex21 T A 12: 76,214,624 D250V probably damaging Het
Tpo A G 12: 30,100,414 V489A probably benign Het
Tspo T C 15: 83,571,415 M1T probably null Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnk2 C T 13: 49,102,802 G281D probably damaging Het
Zfhx2 T C 14: 55,066,628 T1300A probably benign Het
Other mutations in Lmx1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Lmx1a APN 1 167844623 splice site probably benign
IGL02637:Lmx1a APN 1 167844623 splice site probably benign
IGL02642:Lmx1a APN 1 167844623 splice site probably benign
IGL02811:Lmx1a APN 1 167791374 missense probably benign 0.06
scooby UTSW 1 167830687 missense possibly damaging 0.47
R0320:Lmx1a UTSW 1 167791404 nonsense probably null
R1217:Lmx1a UTSW 1 167791399 missense probably damaging 1.00
R2897:Lmx1a UTSW 1 167830540 splice site probably benign
R4211:Lmx1a UTSW 1 167832859 missense probably damaging 0.96
R4976:Lmx1a UTSW 1 167791554 missense possibly damaging 0.73
R5125:Lmx1a UTSW 1 167830687 missense possibly damaging 0.47
R6858:Lmx1a UTSW 1 167832881 missense probably damaging 1.00
R7099:Lmx1a UTSW 1 167830546 missense probably damaging 1.00
R7177:Lmx1a UTSW 1 167846678 missense probably benign
R7380:Lmx1a UTSW 1 167692040 missense probably damaging 1.00
R7831:Lmx1a UTSW 1 167840952 missense probably benign 0.06
R7914:Lmx1a UTSW 1 167840952 missense probably benign 0.06
Z1176:Lmx1a UTSW 1 167691999 missense possibly damaging 0.86
Posted On2015-04-16