Incidental Mutation 'R1706:Lca5l'
ID190099
Institutional Source Beutler Lab
Gene Symbol Lca5l
Ensembl Gene ENSMUSG00000045275
Gene NameLeber congenital amaurosis 5-like
Synonyms4921526F01Rik
MMRRC Submission 039739-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R1706 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location96158407-96192257 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96175964 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 214 (N214S)
Ref Sequence ENSEMBL: ENSMUSP00000061337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054855] [ENSMUST00000113804]
Predicted Effect probably benign
Transcript: ENSMUST00000054855
AA Change: N214S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: N214S

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: N209S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: N209S

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 0.0599 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,624,059 probably benign Het
4931406C07Rik G A 9: 15,297,857 T47I probably damaging Het
Adcy2 T A 13: 68,720,746 N558I probably damaging Het
Ago3 G A 4: 126,370,292 P374S probably damaging Het
Ak8 T C 2: 28,759,995 C345R possibly damaging Het
Akap8l C T 17: 32,332,483 R511H probably damaging Het
BC005624 T C 2: 30,978,910 E84G possibly damaging Het
Cav1 T C 6: 17,339,182 F89L probably damaging Het
Cfap206 G A 4: 34,688,875 P593L probably damaging Het
Clcn6 G A 4: 148,017,568 T353I probably benign Het
Cstl1 G A 2: 148,751,159 probably null Het
Cyp2d10 A C 15: 82,405,582 S140A probably damaging Het
D130052B06Rik G A 11: 33,616,230 R18H unknown Het
Ddi2 A G 4: 141,683,997 F535L probably benign Het
Dopey1 C T 9: 86,554,080 T2383M possibly damaging Het
Duox1 A G 2: 122,319,472 T115A probably benign Het
Ercc6l2 T A 13: 63,872,458 probably benign Het
Gm7052 A G 17: 22,039,842 probably benign Het
Gm9925 G A 18: 74,065,502 probably benign Het
Gnas T A 2: 174,299,975 S646T possibly damaging Het
Gpatch3 T A 4: 133,575,173 C138* probably null Het
Igsf8 C T 1: 172,317,405 R100C probably damaging Het
Kcnh3 A G 15: 99,238,078 K652R possibly damaging Het
Kcnn4 T A 7: 24,374,742 V77E probably damaging Het
Kif13b T A 14: 64,760,666 probably benign Het
Luc7l3 T C 11: 94,297,756 probably benign Het
Lypd3 T C 7: 24,640,330 I274T probably benign Het
Macf1 A G 4: 123,370,584 probably null Het
Mchr1 A G 15: 81,237,163 Y38C probably damaging Het
Mia2 T A 12: 59,144,766 L716* probably null Het
Mki67 A G 7: 135,700,566 L913P probably benign Het
Mug2 T A 6: 122,036,232 probably benign Het
Neu3 A G 7: 99,823,356 L58P probably damaging Het
Olfr1099 A T 2: 86,959,080 I126N probably damaging Het
Olfr1198 G A 2: 88,746,138 P250L probably damaging Het
Pak1ip1 T C 13: 41,012,688 V363A probably benign Het
Pcdhb16 A G 18: 37,479,652 D555G probably benign Het
Pygb G A 2: 150,827,147 G671D probably damaging Het
Rab30 A T 7: 92,829,667 I79L possibly damaging Het
Rab44 C A 17: 29,138,106 T70K probably damaging Het
Rccd1 C G 7: 80,320,663 G69R possibly damaging Het
Sema5b T C 16: 35,649,755 V329A probably damaging Het
Setd2 A G 9: 110,549,864 S632G probably benign Het
Slc22a14 T C 9: 119,180,984 N15S probably benign Het
Smurf2 G A 11: 106,824,747 H632Y probably damaging Het
Syt10 C T 15: 89,790,776 D456N probably damaging Het
Tex10 C T 4: 48,456,800 R637Q probably benign Het
Tgm6 T C 2: 130,145,159 C516R possibly damaging Het
Tmprss9 T C 10: 80,898,187 probably benign Het
Trim67 A G 8: 124,794,421 N174S probably damaging Het
Ttc8 C A 12: 98,943,883 T123K probably benign Het
Ugt1a7c T A 1: 88,095,725 M202K probably damaging Het
Vmn2r7 T A 3: 64,691,459 H559L possibly damaging Het
Zfp511 A G 7: 140,037,279 D96G probably benign Het
Zfp868 A G 8: 69,612,409 Y92H probably benign Het
Zzz3 T A 3: 152,449,098 D633E probably damaging Het
Other mutations in Lca5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Lca5l APN 16 96161412 missense possibly damaging 0.90
IGL02893:Lca5l APN 16 96178913 missense probably benign 0.01
IGL03056:Lca5l APN 16 96161351 missense probably benign 0.26
IGL03208:Lca5l APN 16 96178846 missense probably damaging 0.98
IGL03267:Lca5l APN 16 96159783 missense probably benign 0.03
R0417:Lca5l UTSW 16 96162653 missense probably damaging 1.00
R0961:Lca5l UTSW 16 96161360 missense possibly damaging 0.90
R1458:Lca5l UTSW 16 96159859 missense possibly damaging 0.95
R1650:Lca5l UTSW 16 96178940 critical splice acceptor site probably null
R1669:Lca5l UTSW 16 96159808 missense possibly damaging 0.95
R2004:Lca5l UTSW 16 96162649 missense probably damaging 1.00
R2004:Lca5l UTSW 16 96176018 missense possibly damaging 0.95
R4291:Lca5l UTSW 16 96178774 missense probably damaging 1.00
R4307:Lca5l UTSW 16 96159556 unclassified probably benign
R4824:Lca5l UTSW 16 96162029 nonsense probably null
R4920:Lca5l UTSW 16 96178835 missense probably damaging 1.00
R4991:Lca5l UTSW 16 96159732 missense possibly damaging 0.90
R5591:Lca5l UTSW 16 96178729 missense probably damaging 1.00
R5774:Lca5l UTSW 16 96176061 missense probably benign 0.22
R6243:Lca5l UTSW 16 96178912 missense possibly damaging 0.90
R6403:Lca5l UTSW 16 96173845 missense probably benign 0.41
R7153:Lca5l UTSW 16 96173809 missense probably damaging 0.98
R7754:Lca5l UTSW 16 96159561 missense unknown
R7758:Lca5l UTSW 16 96178837 missense probably benign 0.00
R7814:Lca5l UTSW 16 96162557 critical splice donor site probably null
R8357:Lca5l UTSW 16 96159708 missense possibly damaging 0.95
R8401:Lca5l UTSW 16 96162560 missense probably damaging 0.99
R8457:Lca5l UTSW 16 96159708 missense possibly damaging 0.95
R8527:Lca5l UTSW 16 96159238 missense probably damaging 1.00
R8807:Lca5l UTSW 16 96178608 missense probably benign 0.01
RF031:Lca5l UTSW 16 96159304 frame shift probably null
RF042:Lca5l UTSW 16 96159297 frame shift probably null
RF050:Lca5l UTSW 16 96159301 small deletion probably benign
RF059:Lca5l UTSW 16 96159301 small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CGGTCAACCTGTCAGTCAGTTCTTC -3'
(R):5'- GCCTCTCAGTTTCATGGCATTTGTG -3'

Sequencing Primer
(F):5'- AGTTCTTCTCTCTCTGCAAGG -3'
(R):5'- TGTCAGCCAGGCTTCATAAG -3'
Posted On2014-05-14