Incidental Mutation 'IGL00088:Lhx6'
ID 1900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhx6
Ensembl Gene ENSMUSG00000026890
Gene Name LIM homeobox protein 6
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # IGL00088
Quality Score
Status
Chromosome 2
Chromosomal Location 35971965-35995420 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 35981728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112960] [ENSMUST00000112961] [ENSMUST00000112963] [ENSMUST00000112966] [ENSMUST00000112967] [ENSMUST00000136821] [ENSMUST00000148852]
AlphaFold Q9R1R0
Predicted Effect probably benign
Transcript: ENSMUST00000112960
SMART Domains Protein: ENSMUSP00000108584
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
low complexity region 71 94 N/A INTRINSIC
LIM 98 151 7.34e-13 SMART
LIM 159 213 3.17e-17 SMART
HOX 248 310 1.1e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112961
SMART Domains Protein: ENSMUSP00000108585
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
low complexity region 42 65 N/A INTRINSIC
LIM 69 122 7.34e-13 SMART
LIM 130 184 3.17e-17 SMART
HOX 219 281 1.1e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112963
SMART Domains Protein: ENSMUSP00000108587
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
low complexity region 42 65 N/A INTRINSIC
LIM 69 122 7.34e-13 SMART
LIM 130 184 3.17e-17 SMART
HOX 219 281 1.1e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112966
SMART Domains Protein: ENSMUSP00000108590
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
low complexity region 42 65 N/A INTRINSIC
LIM 69 122 7.34e-13 SMART
LIM 130 184 3.17e-17 SMART
HOX 219 281 1.1e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112967
SMART Domains Protein: ENSMUSP00000108591
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
low complexity region 71 94 N/A INTRINSIC
LIM 98 151 7.34e-13 SMART
LIM 159 213 3.17e-17 SMART
HOX 248 310 1.1e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136821
SMART Domains Protein: ENSMUSP00000135776
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
LIM 10 64 3.17e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148852
SMART Domains Protein: ENSMUSP00000135693
Gene: ENSMUSG00000026890

DomainStartEndE-ValueType
low complexity region 42 65 N/A INTRINSIC
LIM 69 122 7.34e-13 SMART
LIM 130 184 3.17e-17 SMART
HOX 219 281 1.1e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185171
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 member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutation of this gene results in impaired migration and specification of cortical interneurons, postnatal lethality and weakness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,798,512 (GRCm39) probably benign Het
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gls2 A G 10: 128,036,840 (GRCm39) probably null Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Nup58 T A 14: 60,480,026 (GRCm39) I207L probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Plch2 T C 4: 155,091,099 (GRCm39) N276S probably damaging Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Recql4 C T 15: 76,591,536 (GRCm39) A484T possibly damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Trmt2a T A 16: 18,067,351 (GRCm39) V8D probably benign Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Lhx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Lhx6 APN 2 35,993,477 (GRCm39) missense probably benign 0.00
IGL01413:Lhx6 APN 2 35,993,528 (GRCm39) missense probably benign 0.24
IGL03154:Lhx6 APN 2 35,984,455 (GRCm39) splice site probably null
R1546:Lhx6 UTSW 2 35,981,049 (GRCm39) missense probably benign 0.00
R1630:Lhx6 UTSW 2 35,992,913 (GRCm39) missense probably damaging 1.00
R1785:Lhx6 UTSW 2 35,977,470 (GRCm39) nonsense probably null
R1786:Lhx6 UTSW 2 35,977,470 (GRCm39) nonsense probably null
R1792:Lhx6 UTSW 2 35,977,387 (GRCm39) missense probably damaging 1.00
R2126:Lhx6 UTSW 2 35,981,336 (GRCm39) missense possibly damaging 0.94
R2145:Lhx6 UTSW 2 35,977,478 (GRCm39) missense probably benign 0.01
R2167:Lhx6 UTSW 2 35,993,371 (GRCm39) missense probably damaging 1.00
R2393:Lhx6 UTSW 2 35,981,402 (GRCm39) missense probably benign 0.22
R5102:Lhx6 UTSW 2 35,984,222 (GRCm39) splice site probably null
R5418:Lhx6 UTSW 2 35,977,378 (GRCm39) critical splice donor site probably null
R6735:Lhx6 UTSW 2 35,981,390 (GRCm39) missense probably damaging 0.99
R7462:Lhx6 UTSW 2 35,974,083 (GRCm39) missense possibly damaging 0.86
R7546:Lhx6 UTSW 2 35,993,357 (GRCm39) critical splice donor site probably null
R8870:Lhx6 UTSW 2 35,995,232 (GRCm39) unclassified probably benign
R9192:Lhx6 UTSW 2 35,981,145 (GRCm39) missense probably benign 0.10
R9667:Lhx6 UTSW 2 35,980,979 (GRCm39) missense possibly damaging 0.93
Posted On 2011-07-12