Incidental Mutation 'IGL03056:Lca5l'
ID 409245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lca5l
Ensembl Gene ENSMUSG00000045275
Gene Name Leber congenital amaurosis 5-like
Synonyms 4921526F01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03056
Quality Score
Status
Chromosome 16
Chromosomal Location 95959605-95993450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95962551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 463 (C463Y)
Ref Sequence ENSEMBL: ENSMUSP00000061337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023913] [ENSMUST00000054855] [ENSMUST00000113804]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023913
SMART Domains Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147

DomainStartEndE-ValueType
Pfam:CHD5 12 163 1.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054855
AA Change: C463Y

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: C463Y

DomainStartEndE-ValueType
low complexity region 39 53 N/A INTRINSIC
Pfam:Lebercilin 144 336 5.6e-68 PFAM
low complexity region 528 544 N/A INTRINSIC
low complexity region 654 670 N/A INTRINSIC
low complexity region 679 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113804
AA Change: C458Y

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: C458Y

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:Lebercilin 138 331 1.9e-71 PFAM
low complexity region 523 539 N/A INTRINSIC
low complexity region 649 665 N/A INTRINSIC
low complexity region 674 683 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142620
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,647,862 (GRCm39) H1118R probably damaging Het
Aff1 G A 5: 103,958,947 (GRCm39) V339I probably damaging Het
Ank1 G T 8: 23,631,195 (GRCm39) V107F probably damaging Het
Aox3 T C 1: 58,198,180 (GRCm39) probably null Het
Cd160 T C 3: 96,713,127 (GRCm39) T46A probably benign Het
Cimip2a T A 2: 25,111,367 (GRCm39) M232K possibly damaging Het
Col20a1 A T 2: 180,636,682 (GRCm39) Y221F probably damaging Het
Ddx18 C T 1: 121,492,264 (GRCm39) A148T probably benign Het
Dennd5b A G 6: 148,956,570 (GRCm39) M307T probably damaging Het
Fam216b G A 14: 78,320,223 (GRCm39) H86Y probably benign Het
Fh1 A T 1: 175,433,728 (GRCm39) C374S probably damaging Het
Fkbp14 A G 6: 54,556,529 (GRCm39) V207A probably benign Het
Gucy1a1 T C 3: 82,020,594 (GRCm39) K101R probably benign Het
Kcnk2 G T 1: 189,027,908 (GRCm39) Q116K possibly damaging Het
Kdm5b C A 1: 134,515,717 (GRCm39) Q114K probably damaging Het
Kif12 C T 4: 63,085,193 (GRCm39) R516Q probably null Het
Lgsn T A 1: 31,242,705 (GRCm39) Y262* probably null Het
Lig4 A G 8: 10,022,580 (GRCm39) I400T possibly damaging Het
Mink1 T A 11: 70,503,409 (GRCm39) probably null Het
Mprip T A 11: 59,662,518 (GRCm39) I2243N probably damaging Het
Myo1f A T 17: 33,804,574 (GRCm39) Y426F probably damaging Het
Naip2 T A 13: 100,298,795 (GRCm39) S414C possibly damaging Het
Nrg1 T C 8: 32,311,451 (GRCm39) I363V possibly damaging Het
Or4f54 A T 2: 111,123,517 (GRCm39) R301S possibly damaging Het
Or52r1b A T 7: 102,690,958 (GRCm39) I86L possibly damaging Het
Serpinb9d T C 13: 33,386,736 (GRCm39) V268A probably damaging Het
Slc15a1 A G 14: 121,728,695 (GRCm39) F17L possibly damaging Het
Slc9a3 T A 13: 74,298,938 (GRCm39) V119E probably damaging Het
Sspo T A 6: 48,447,472 (GRCm39) M2346K probably benign Het
Tcf4 G T 18: 69,784,283 (GRCm39) probably benign Het
Trabd2b T C 4: 114,266,535 (GRCm39) V183A probably damaging Het
Ust T C 10: 8,083,326 (GRCm39) H350R probably benign Het
Zfp952 T A 17: 33,221,740 (GRCm39) V35E probably damaging Het
Other mutations in Lca5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Lca5l APN 16 95,962,612 (GRCm39) missense possibly damaging 0.90
IGL02893:Lca5l APN 16 95,980,113 (GRCm39) missense probably benign 0.01
IGL03208:Lca5l APN 16 95,980,046 (GRCm39) missense probably damaging 0.98
IGL03267:Lca5l APN 16 95,960,983 (GRCm39) missense probably benign 0.03
R0417:Lca5l UTSW 16 95,963,853 (GRCm39) missense probably damaging 1.00
R0961:Lca5l UTSW 16 95,962,560 (GRCm39) missense possibly damaging 0.90
R1458:Lca5l UTSW 16 95,961,059 (GRCm39) missense possibly damaging 0.95
R1650:Lca5l UTSW 16 95,980,140 (GRCm39) critical splice acceptor site probably null
R1669:Lca5l UTSW 16 95,961,008 (GRCm39) missense possibly damaging 0.95
R1706:Lca5l UTSW 16 95,977,164 (GRCm39) missense probably benign 0.41
R2004:Lca5l UTSW 16 95,977,218 (GRCm39) missense possibly damaging 0.95
R2004:Lca5l UTSW 16 95,963,849 (GRCm39) missense probably damaging 1.00
R4291:Lca5l UTSW 16 95,979,974 (GRCm39) missense probably damaging 1.00
R4307:Lca5l UTSW 16 95,960,756 (GRCm39) unclassified probably benign
R4824:Lca5l UTSW 16 95,963,229 (GRCm39) nonsense probably null
R4920:Lca5l UTSW 16 95,980,035 (GRCm39) missense probably damaging 1.00
R4991:Lca5l UTSW 16 95,960,932 (GRCm39) missense possibly damaging 0.90
R5591:Lca5l UTSW 16 95,979,929 (GRCm39) missense probably damaging 1.00
R5774:Lca5l UTSW 16 95,977,261 (GRCm39) missense probably benign 0.22
R6243:Lca5l UTSW 16 95,980,112 (GRCm39) missense possibly damaging 0.90
R6403:Lca5l UTSW 16 95,975,045 (GRCm39) missense probably benign 0.41
R7153:Lca5l UTSW 16 95,975,009 (GRCm39) missense probably damaging 0.98
R7754:Lca5l UTSW 16 95,960,761 (GRCm39) missense unknown
R7758:Lca5l UTSW 16 95,980,037 (GRCm39) missense probably benign 0.00
R7814:Lca5l UTSW 16 95,963,757 (GRCm39) critical splice donor site probably null
R8357:Lca5l UTSW 16 95,960,908 (GRCm39) missense possibly damaging 0.95
R8401:Lca5l UTSW 16 95,963,760 (GRCm39) missense probably damaging 0.99
R8457:Lca5l UTSW 16 95,960,908 (GRCm39) missense possibly damaging 0.95
R8527:Lca5l UTSW 16 95,960,438 (GRCm39) missense probably damaging 1.00
R8807:Lca5l UTSW 16 95,979,808 (GRCm39) missense probably benign 0.01
R9105:Lca5l UTSW 16 95,960,671 (GRCm39) missense probably damaging 0.99
R9146:Lca5l UTSW 16 95,960,998 (GRCm39) missense probably damaging 0.98
R9165:Lca5l UTSW 16 95,977,218 (GRCm39) missense probably damaging 0.99
R9378:Lca5l UTSW 16 95,977,212 (GRCm39) missense probably damaging 1.00
R9657:Lca5l UTSW 16 95,974,953 (GRCm39) nonsense probably null
RF031:Lca5l UTSW 16 95,960,504 (GRCm39) frame shift probably null
RF042:Lca5l UTSW 16 95,960,497 (GRCm39) frame shift probably null
RF050:Lca5l UTSW 16 95,960,501 (GRCm39) small deletion probably benign
RF059:Lca5l UTSW 16 95,960,501 (GRCm39) small deletion probably benign
Posted On 2016-08-02