Incidental Mutation 'IGL01806:Lhx8'
ID155675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhx8
Ensembl Gene ENSMUSG00000096225
Gene NameLIM homeobox protein 8
SynonymsL3, Lhx7
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.383) question?
Stock #IGL01806
Quality Score
Status
Chromosome3
Chromosomal Location154306294-154330659 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 154322355 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 156 (S156P)
Ref Sequence ENSEMBL: ENSMUSP00000145485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177846] [ENSMUST00000204171] [ENSMUST00000204403] [ENSMUST00000205251]
Predicted Effect probably damaging
Transcript: ENSMUST00000177846
AA Change: S187P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: S187P

DomainStartEndE-ValueType
low complexity region 67 87 N/A INTRINSIC
LIM 95 148 2.38e-12 SMART
LIM 156 210 2.06e-16 SMART
HOX 246 308 2.7e-23 SMART
low complexity region 310 321 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203692
Predicted Effect probably benign
Transcript: ENSMUST00000204171
SMART Domains Protein: ENSMUSP00000144708
Gene: ENSMUSG00000096225

DomainStartEndE-ValueType
low complexity region 11 31 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204403
AA Change: S156P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225
AA Change: S156P

DomainStartEndE-ValueType
low complexity region 36 56 N/A INTRINSIC
LIM 64 117 2.38e-12 SMART
LIM 125 179 2.06e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205251
AA Change: S156P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: S156P

DomainStartEndE-ValueType
low complexity region 36 56 N/A INTRINSIC
LIM 64 117 2.38e-12 SMART
LIM 125 179 2.06e-16 SMART
HOX 215 277 2.7e-23 SMART
low complexity region 279 290 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.] The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice exhibit partial penetrance of a cleft secondary palate and neonatal lethality; those without cleft palate survive to adulthood. All homozygous null mice have decreased or absent forebrain cholinergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T C 8: 95,012,931 S670P probably damaging Het
Ap5m1 T A 14: 49,080,340 F351L probably damaging Het
Cacnb2 A G 2: 14,614,268 Y38C probably damaging Het
Ccdc28a C T 10: 18,219,514 A151T possibly damaging Het
Cgnl1 T C 9: 71,650,322 E976G probably damaging Het
Cyp2c39 A G 19: 39,536,820 Y189C probably damaging Het
Dbt T C 3: 116,533,305 V101A probably damaging Het
Evc A G 5: 37,320,234 probably null Het
Fastkd5 A G 2: 130,615,612 Y353H probably benign Het
Gm6408 G A 5: 146,482,082 R30H probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mtrr A T 13: 68,580,600 V27E possibly damaging Het
Myh14 A G 7: 44,657,939 V226A probably benign Het
Nek1 T C 8: 61,124,212 S1076P possibly damaging Het
Olfr522 G T 7: 140,162,928 N7K probably benign Het
Olfr619 C T 7: 103,604,341 A229V probably benign Het
Pcdhb7 A G 18: 37,342,495 D228G possibly damaging Het
Pias3 T C 3: 96,703,757 S414P probably benign Het
Plcd4 G A 1: 74,552,033 V196I probably benign Het
Proca1 A G 11: 78,204,911 D123G probably damaging Het
Ptpn3 A G 4: 57,254,915 probably null Het
Ptprq C A 10: 107,699,608 R432L probably damaging Het
Rasgrp4 A G 7: 29,139,050 K108E possibly damaging Het
Siglecg A G 7: 43,411,464 probably null Het
Srpr A G 9: 35,214,905 T465A possibly damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Zeb1 G A 18: 5,767,867 V793M possibly damaging Het
Other mutations in Lhx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01991:Lhx8 APN 3 154324554 missense probably damaging 1.00
R0463:Lhx8 UTSW 3 154328171 splice site probably null
R1449:Lhx8 UTSW 3 154328105 nonsense probably null
R1837:Lhx8 UTSW 3 154328055 missense possibly damaging 0.94
R2272:Lhx8 UTSW 3 154316762 missense probably damaging 1.00
R3196:Lhx8 UTSW 3 154330288 missense probably benign 0.05
R4900:Lhx8 UTSW 3 154330288 missense probably benign 0.01
R5120:Lhx8 UTSW 3 154311695 missense probably damaging 0.99
R5223:Lhx8 UTSW 3 154321644 missense probably damaging 1.00
R5587:Lhx8 UTSW 3 154311679 missense probably damaging 0.99
R6046:Lhx8 UTSW 3 154321703 missense probably damaging 1.00
R7155:Lhx8 UTSW 3 154324584 missense possibly damaging 0.82
X0028:Lhx8 UTSW 3 154324575 missense possibly damaging 0.94
Posted On2014-02-04