Incidental Mutation 'IGL01349:Lca5'
ID75290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lca5
Ensembl Gene ENSMUSG00000032258
Gene NameLeber congenital amaurosis 5 (human)
Synonyms4930431B11Rik, 5730406O13Rik, ORF64
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.654) question?
Stock #IGL01349
Quality Score
Status
Chromosome9
Chromosomal Location83390293-83441127 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83426617 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 59 (S59P)
Ref Sequence ENSEMBL: ENSMUSP00000140753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034791] [ENSMUST00000034793] [ENSMUST00000186802] [ENSMUST00000188548] [ENSMUST00000190514]
Predicted Effect probably damaging
Transcript: ENSMUST00000034791
AA Change: S59P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: S59P

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:Lebercilin 103 295 2.6e-66 PFAM
low complexity region 306 315 N/A INTRINSIC
low complexity region 617 627 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000034793
AA Change: S59P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034793
Gene: ENSMUSG00000032258
AA Change: S59P

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:Lebercilin 102 295 4.8e-71 PFAM
low complexity region 306 315 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186802
AA Change: S59P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139529
Gene: ENSMUSG00000032258
AA Change: S59P

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:Lebercilin 102 176 1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188217
Predicted Effect probably benign
Transcript: ENSMUST00000188548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190373
Predicted Effect probably damaging
Transcript: ENSMUST00000190514
AA Change: S59P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140753
Gene: ENSMUSG00000032258
AA Change: S59P

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:Lebercilin 102 295 5.8e-71 PFAM
low complexity region 306 315 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190557
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 protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,292,076 S1313L probably benign Het
Adam28 T C 14: 68,611,006 H667R probably benign Het
Arap1 T C 7: 101,387,152 V382A possibly damaging Het
Arih2 T C 9: 108,605,410 Y444C probably damaging Het
Asxl3 T G 18: 22,524,237 V1768G probably benign Het
Bbs9 T A 9: 22,887,683 M869K probably benign Het
C4bp A G 1: 130,642,928 probably benign Het
Cc2d2a A T 5: 43,723,784 Y1167F probably benign Het
Cgn T A 3: 94,767,176 K884* probably null Het
Chd1l T C 3: 97,591,234 Y283C probably benign Het
Cry1 A G 10: 85,148,739 V157A probably benign Het
Dcc T A 18: 71,370,737 D950V probably damaging Het
Dlc1 A G 8: 36,583,824 F918L probably damaging Het
Dnah2 T C 11: 69,475,606 N1890S probably damaging Het
Dnah5 A G 15: 28,294,913 probably benign Het
Eif4b C T 15: 102,091,423 T412I probably benign Het
Eloa A C 4: 136,014,447 Y29D probably benign Het
Erbb4 A G 1: 68,346,593 F279S probably benign Het
Etl4 A G 2: 20,713,396 D316G probably damaging Het
Gm5114 T C 7: 39,409,107 S363G probably benign Het
Gpam A G 19: 55,096,119 probably null Het
Il17rd T A 14: 27,095,944 S197T probably damaging Het
Iqsec3 T C 6: 121,473,124 E147G possibly damaging Het
Itk T A 11: 46,341,200 T303S possibly damaging Het
Kcnh6 A G 11: 106,023,917 D716G possibly damaging Het
Lrrc40 T C 3: 158,058,665 probably benign Het
Mmp7 T C 9: 7,699,334 probably benign Het
Mycbp2 T C 14: 103,122,547 T4427A probably damaging Het
Nf2 T C 11: 4,784,472 D513G possibly damaging Het
Olfr10 T A 11: 49,318,300 Y251* probably null Het
Pde7a C T 3: 19,229,679 probably benign Het
Pira2 T C 7: 3,844,139 T135A probably damaging Het
Rb1 T C 14: 73,269,118 Y397C probably damaging Het
Ros1 A T 10: 52,051,026 M2187K probably damaging Het
Ryr2 T A 13: 11,587,239 I4586F possibly damaging Het
Serpinb3c A T 1: 107,272,783 M210K probably damaging Het
Slc22a19 C A 19: 7,674,427 V472F probably benign Het
Slc4a11 A G 2: 130,686,943 I462T probably benign Het
Spag11b A T 8: 19,141,476 H55L probably damaging Het
Trpv5 G T 6: 41,675,375 N125K possibly damaging Het
Ubr4 G T 4: 139,480,728 R4940L unknown Het
Vcan T A 13: 89,703,943 H966L probably damaging Het
Vmn1r204 T A 13: 22,556,334 I45K probably damaging Het
Vnn3 A T 10: 23,851,916 I75F probably damaging Het
Vps13b A T 15: 35,793,945 M2256L probably benign Het
Zfc3h1 T A 10: 115,423,448 L1642M probably damaging Het
Other mutations in Lca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Lca5 APN 9 83395475 missense probably damaging 0.98
IGL01918:Lca5 APN 9 83423148 missense probably damaging 1.00
IGL02035:Lca5 APN 9 83423312 missense probably damaging 1.00
IGL02276:Lca5 APN 9 83398585 missense possibly damaging 0.79
IGL02425:Lca5 APN 9 83399721 missense probably damaging 1.00
IGL02481:Lca5 APN 9 83423117 missense probably damaging 1.00
IGL02483:Lca5 APN 9 83423117 missense probably damaging 1.00
R0465:Lca5 UTSW 9 83395867 nonsense probably null
R0610:Lca5 UTSW 9 83399739 missense probably benign 0.24
R0811:Lca5 UTSW 9 83399753 missense possibly damaging 0.95
R0812:Lca5 UTSW 9 83399753 missense possibly damaging 0.95
R0968:Lca5 UTSW 9 83423169 missense probably benign 0.01
R1891:Lca5 UTSW 9 83395608 missense probably damaging 1.00
R5223:Lca5 UTSW 9 83398613 missense probably benign 0.00
R5235:Lca5 UTSW 9 83423054 nonsense probably null
R5260:Lca5 UTSW 9 83423223 missense probably damaging 0.98
R5531:Lca5 UTSW 9 83398595 missense probably benign 0.00
R5558:Lca5 UTSW 9 83401743 missense probably damaging 0.99
R5688:Lca5 UTSW 9 83398566 missense probably benign 0.01
R5886:Lca5 UTSW 9 83399681 missense probably benign 0.31
R6426:Lca5 UTSW 9 83395654 nonsense probably null
R7108:Lca5 UTSW 9 83423169 missense probably benign 0.25
R7151:Lca5 UTSW 9 83398640 missense probably benign 0.20
R7314:Lca5 UTSW 9 83395510 missense possibly damaging 0.86
R7378:Lca5 UTSW 9 83395530 missense probably benign 0.00
R7468:Lca5 UTSW 9 83423456 missense probably damaging 0.99
R7686:Lca5 UTSW 9 83395239 missense probably benign 0.00
R8874:Lca5 UTSW 9 83395450 missense probably damaging 1.00
R8934:Lca5 UTSW 9 83391856 utr 3 prime probably benign
Posted On2013-10-07