Incidental Mutation 'IGL01991:Lhx8'
ID182875
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 #IGL01991
Quality Score
Status
Chromosome3
Chromosomal Location154306294-154330659 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 154324554 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 116 (L116P)
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: L147P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: L147P

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: L116P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225
AA Change: L116P

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: L116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: L116P

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,953,110 F145I probably benign Het
Acot7 A G 4: 152,223,079 K152E possibly damaging Het
Adamts13 G T 2: 26,990,598 G731V probably damaging Het
Als2cl C T 9: 110,892,917 R584C probably benign Het
Apba1 T A 19: 23,937,472 S679T possibly damaging Het
Asxl3 G A 18: 22,516,162 V403I probably damaging Het
Card11 T C 5: 140,913,378 T14A possibly damaging Het
Creb1 T C 1: 64,559,754 F97L probably benign Het
Crispld1 T A 1: 17,753,017 H407Q probably benign Het
Crtac1 A T 19: 42,414,121 L16Q possibly damaging Het
Cyp2c29 T C 19: 39,330,315 I452T probably damaging Het
Dennd5b A T 6: 149,080,824 D95E probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Gm6878 G A 14: 67,306,229 probably benign Het
Gm7682 A T 5: 94,445,846 Q10L probably benign Het
Greb1 T C 12: 16,699,681 Y1048C probably damaging Het
Iqcc T A 4: 129,617,789 E105V probably benign Het
Lrrk2 A G 15: 91,779,946 D1962G probably damaging Het
Map1b T A 13: 99,429,569 M2215L unknown Het
Mapk8ip3 A T 17: 24,927,861 L136Q possibly damaging Het
Mical3 T C 6: 120,935,211 N1896D probably damaging Het
Mprip A G 11: 59,755,012 E674G probably damaging Het
Olfr1045 T C 2: 86,198,533 N73S probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdzrn4 T A 15: 92,401,926 probably null Het
Prom1 T C 5: 44,047,506 T209A probably benign Het
Prom2 C A 2: 127,529,222 C785F probably damaging Het
Psg20 T C 7: 18,684,425 Q139R probably benign Het
Rapgef6 T A 11: 54,552,869 C93S probably benign Het
Rassf2 C T 2: 132,000,432 probably null Het
Scn11a A G 9: 119,819,904 I31T probably damaging Het
Slc4a5 A T 6: 83,263,543 D164V possibly damaging Het
Slco3a1 T C 7: 74,284,396 D676G possibly damaging Het
Tmcc2 T C 1: 132,361,092 I208V probably benign Het
Traf4 T C 11: 78,160,046 D428G possibly damaging Het
Trio T C 15: 27,871,274 I586V possibly damaging Het
Unc80 T A 1: 66,469,509 C46* probably null Het
Vmn2r89 A G 14: 51,452,219 N60D probably benign Het
Wscd1 A T 11: 71,787,723 K391* probably null Het
Wwc2 A T 8: 47,869,866 L400* probably null Het
Other mutations in Lhx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01806:Lhx8 APN 3 154322355 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 On2014-05-07