Incidental Mutation 'R1669:Lca5l'
ID 187493
Institutional Source Beutler Lab
Gene Symbol Lca5l
Ensembl Gene ENSMUSG00000045275
Gene Name Leber congenital amaurosis 5-like
Synonyms 4921526F01Rik
MMRRC Submission 039705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1669 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 95959605-95993450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95961008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 485 (R485G)
Ref Sequence ENSEMBL: ENSMUSP00000109435 (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 possibly damaging
Transcript: ENSMUST00000054855
AA Change: R490G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: R490G

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 possibly damaging
Transcript: ENSMUST00000113804
AA Change: R485G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: R485G

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
Meta Mutation Damage Score 0.1761 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (85/86)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A C 9: 122,086,249 (GRCm39) L258R possibly damaging Het
Ap3d1 A G 10: 80,546,670 (GRCm39) probably benign Het
Aplp2 G T 9: 31,079,029 (GRCm39) probably benign Het
Arhgap11a T C 2: 113,672,257 (GRCm39) D237G possibly damaging Het
Arhgef4 A T 1: 34,771,239 (GRCm39) H1182L possibly damaging Het
Ash1l G A 3: 88,974,549 (GRCm39) probably null Het
Bicdl1 C A 5: 115,794,075 (GRCm39) V224L possibly damaging Het
Cacna1h C A 17: 25,602,445 (GRCm39) V1422L probably damaging Het
Card10 T C 15: 78,678,153 (GRCm39) E365G probably benign Het
Cd180 C T 13: 102,841,998 (GRCm39) T348I probably damaging Het
Cds2 T A 2: 132,137,439 (GRCm39) probably null Het
Chaf1a C A 17: 56,370,339 (GRCm39) D601E probably benign Het
Coprs C T 8: 13,935,704 (GRCm39) W12* probably null Het
Cpsf3 T A 12: 21,355,332 (GRCm39) M424K probably damaging Het
Cxcl13 T A 5: 96,106,600 (GRCm39) N57K probably damaging Het
Dact1 C T 12: 71,365,547 (GRCm39) T776M probably damaging Het
Depdc1a A G 3: 159,228,561 (GRCm39) K438E probably benign Het
Dop1b T A 16: 93,566,548 (GRCm39) S992T probably damaging Het
Dusp11 A T 6: 85,927,008 (GRCm39) H202Q probably benign Het
Ezr T C 17: 7,006,712 (GRCm39) E584G probably damaging Het
F830104G03Rik A G 3: 56,797,998 (GRCm39) V6A unknown Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Gapvd1 T G 2: 34,620,694 (GRCm39) probably null Het
Gm10267 T C 18: 44,290,367 (GRCm39) R47G probably damaging Het
Hectd3 T A 4: 116,856,840 (GRCm39) D462E probably damaging Het
Hfe A T 13: 23,890,110 (GRCm39) L133* probably null Het
Hpcal4 T C 4: 123,082,869 (GRCm39) F72L probably damaging Het
Itgb4 G A 11: 115,882,156 (GRCm39) R825H probably benign Het
Kcnh8 T A 17: 53,200,996 (GRCm39) Y477N probably damaging Het
Kctd1 T C 18: 15,195,517 (GRCm39) N369D possibly damaging Het
Kdm1b C T 13: 47,222,024 (GRCm39) R488C probably damaging Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klra8 A T 6: 130,092,592 (GRCm39) C236* probably null Het
Lrrc2 A G 9: 110,810,718 (GRCm39) T363A probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyst G A 13: 13,818,672 (GRCm39) G1314D possibly damaging Het
Mmp10 A T 9: 7,505,526 (GRCm39) probably null Het
Mmp13 A G 9: 7,277,926 (GRCm39) D273G probably benign Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Msh4 C T 3: 153,582,357 (GRCm39) R417Q possibly damaging Het
Nedd9 A T 13: 41,465,270 (GRCm39) V790E probably damaging Het
Nlgn1 C A 3: 25,490,298 (GRCm39) L476F probably damaging Het
Nox4 C A 7: 86,945,097 (GRCm39) Q118K probably benign Het
Nxf1 A G 19: 8,749,495 (GRCm39) T131A possibly damaging Het
Oog3 C A 4: 143,885,008 (GRCm39) R309S probably benign Het
Oosp3 C T 19: 11,678,378 (GRCm39) probably benign Het
Or10a3 T A 7: 108,479,920 (GRCm39) T298S probably benign Het
Or2a7 T A 6: 43,151,755 (GRCm39) S278R probably damaging Het
Or2w6 A T 13: 21,843,456 (GRCm39) S12R possibly damaging Het
Or4c126 T A 2: 89,824,144 (GRCm39) probably null Het
Or51a42 A T 7: 103,708,516 (GRCm39) S98T probably benign Het
Or5b97 A T 19: 12,878,652 (GRCm39) I164K possibly damaging Het
P2ry6 A G 7: 100,587,630 (GRCm39) V243A probably damaging Het
Pgc C A 17: 48,044,715 (GRCm39) P321T probably damaging Het
Pramel22 T G 4: 143,380,916 (GRCm39) E369A possibly damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Prkdc T A 16: 15,551,922 (GRCm39) S2043T probably damaging Het
Rasal3 T C 17: 32,622,072 (GRCm39) N96D possibly damaging Het
Rnf4 T C 5: 34,508,624 (GRCm39) F162S probably damaging Het
Ros1 A T 10: 52,037,907 (GRCm39) N421K probably damaging Het
Rtn4rl1 A G 11: 75,156,753 (GRCm39) D395G probably benign Het
Scn8a T G 15: 100,909,001 (GRCm39) V823G probably damaging Het
Sema3d T A 5: 12,558,051 (GRCm39) probably benign Het
Slc12a2 T C 18: 58,037,307 (GRCm39) I501T probably damaging Het
Slc12a7 C T 13: 73,943,232 (GRCm39) T382I probably benign Het
Slc16a12 T A 19: 34,657,781 (GRCm39) I41L probably benign Het
Slc1a1 C A 19: 28,889,194 (GRCm39) T489K probably benign Het
Slc24a3 C T 2: 145,455,512 (GRCm39) P467L probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Snai2 A T 16: 14,524,908 (GRCm39) Y138F possibly damaging Het
Sorcs1 A C 19: 50,463,860 (GRCm39) Y197D probably damaging Het
Sppl2a T A 2: 126,759,714 (GRCm39) probably benign Het
Srgap3 G A 6: 112,699,865 (GRCm39) P1038S probably benign Het
Ttn T C 2: 76,554,807 (GRCm39) E30699G probably damaging Het
Vmn2r124 T A 17: 18,283,206 (GRCm39) M300K possibly damaging Het
Vwf T C 6: 125,624,869 (GRCm39) S1873P possibly damaging Het
Wrap73 A G 4: 154,240,588 (GRCm39) D360G probably damaging Het
Zfp366 T C 13: 99,366,069 (GRCm39) M410T probably damaging Het
Zfp608 C T 18: 55,120,811 (GRCm39) V259I probably benign Het
Zfp69 C T 4: 120,804,695 (GRCm39) probably benign Het
Zfp995 T C 17: 22,098,945 (GRCm39) T430A probably benign 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
IGL03056:Lca5l APN 16 95,962,551 (GRCm39) missense probably benign 0.26
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
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
Predicted Primers PCR Primer
(F):5'- TGCTCTTTCTGTCGCGGAATGC -3'
(R):5'- AATGCTCAGAATCGGCCTGTGC -3'

Sequencing Primer
(F):5'- GAAGGAGTAGTGCTTCCGC -3'
(R):5'- ccagagtccctcacagcc -3'
Posted On 2014-05-09