Incidental Mutation 'R1458:Lca5l'
ID161923
Institutional Source Beutler Lab
Gene Symbol Lca5l
Ensembl Gene ENSMUSG00000045275
Gene NameLeber congenital amaurosis 5-like
Synonyms4921526F01Rik
MMRRC Submission 039513-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R1458 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location96158407-96192257 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96159859 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 468 (S468T)
Ref Sequence ENSEMBL: ENSMUSP00000109435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023913] [ENSMUST00000054855] [ENSMUST00000113804]
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: S473T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: S473T

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: S468T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: S468T

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 0.03 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 98% (95/97)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700036A12Rik A G 9: 60,769,761 noncoding transcript Het
A430110L20Rik T A 1: 181,227,858 noncoding transcript Het
Abce1 T C 8: 79,707,235 K63R possibly damaging Het
Acp6 A G 3: 97,173,788 probably benign Het
Adamts13 T A 2: 26,988,354 L579Q probably damaging Het
Adamtsl3 T A 7: 82,523,320 M497K probably damaging Het
Adgrb2 T A 4: 130,014,591 M1042K possibly damaging Het
Akap12 A T 10: 4,353,693 S168C probably damaging Het
Akap3 A T 6: 126,865,554 M379L probably damaging Het
Aldh6a1 C T 12: 84,439,663 M135I probably null Het
Arhgef12 A G 9: 42,988,998 S860P probably damaging Het
Atp11b A C 3: 35,789,558 T185P probably damaging Het
Bcas1 T C 2: 170,387,951 D243G probably damaging Het
Cdhr2 T A 13: 54,717,872 S228T probably damaging Het
Cic T C 7: 25,279,737 probably benign Het
Cmya5 T A 13: 93,065,327 I3376L probably benign Het
Ctrc C A 4: 141,846,224 probably null Het
D230025D16Rik T C 8: 105,246,556 probably null Het
Dchs1 G T 7: 105,755,244 P2697Q probably damaging Het
Dmbt1 A G 7: 131,044,487 probably benign Het
Drd2 G A 9: 49,402,212 R227H probably damaging Het
Dscc1 C A 15: 55,086,764 C195F probably damaging Het
Dzip1 T A 14: 118,922,713 M28L probably benign Het
Edar A T 10: 58,607,366 S313T probably benign Het
Eef1e1 C A 13: 38,656,123 A69S probably damaging Het
Fbn1 A G 2: 125,301,929 V2760A probably benign Het
Fez1 GACAAACA GACA 9: 36,870,549 probably null Het
Fgl1 C G 8: 41,210,459 A11P possibly damaging Het
Fras1 T C 5: 96,600,733 V689A probably benign Het
Fry T A 5: 150,380,859 D571E probably damaging Het
Gm11232 T A 4: 71,757,213 R104* probably null Het
Gm1527 A G 3: 28,918,050 I439V possibly damaging Het
Gm4922 C A 10: 18,783,892 G361* probably null Het
Gm7052 T A 17: 22,040,466 probably benign Het
Gm7534 T C 4: 134,196,833 D467G probably benign Het
Gpatch8 A T 11: 102,481,229 S494R unknown Het
Gria2 A T 3: 80,732,045 V220E possibly damaging Het
Grik4 G A 9: 42,521,122 H860Y probably benign Het
Gtpbp1 A C 15: 79,707,729 S93R probably damaging Het
Gucy2g C A 19: 55,215,036 probably benign Het
Hist1h2ae C A 13: 23,571,047 probably benign Het
Hmcn1 G A 1: 150,609,700 R4384C probably damaging Het
Hspa12b G C 2: 131,145,192 A678P probably damaging Het
Igsf21 T A 4: 140,028,124 N407Y probably damaging Het
Insig2 A G 1: 121,307,156 Y174H probably benign Het
Itpr3 T A 17: 27,118,372 M2413K probably benign Het
Kalrn A T 16: 34,174,487 I1322N probably damaging Het
Klk1b24 T A 7: 44,191,466 M106K possibly damaging Het
Krt81 G T 15: 101,460,317 Q352K probably benign Het
Lvrn T C 18: 46,882,385 probably benign Het
Mcpt1 T A 14: 56,019,164 probably benign Het
Med13l T C 5: 118,738,459 M900T probably benign Het
Med16 A G 10: 79,907,478 probably benign Het
Megf6 G T 4: 154,177,121 V68L probably benign Het
Mep1a T C 17: 43,491,672 H154R probably damaging Het
Mrc2 A T 11: 105,337,772 D659V probably benign Het
Mroh8 T A 2: 157,221,304 E799V probably damaging Het
Mrpl21 A G 19: 3,284,808 Y50C possibly damaging Het
Msl1 A G 11: 98,803,982 probably benign Het
Myo1a C A 10: 127,719,937 Q932K probably benign Het
Nav3 A C 10: 109,720,044 S1675R probably damaging Het
Neurl2 A G 2: 164,832,746 V232A possibly damaging Het
Nfatc1 T A 18: 80,665,267 probably benign Het
Odf3l2 A T 10: 79,645,558 probably benign Het
Olfr1362 C T 13: 21,611,822 C49Y probably benign Het
Olfr175-ps1 T A 16: 58,824,676 E11V probably null Het
P4hb A G 11: 120,562,555 probably benign Het
Papss1 T G 3: 131,605,854 I281S probably damaging Het
Pde10a A T 17: 8,964,708 D832V probably damaging Het
Pfkfb2 A T 1: 130,708,190 Y35N possibly damaging Het
Phf20l1 T A 15: 66,604,813 F253Y probably damaging Het
Pkhd1l1 G A 15: 44,516,115 V1046I probably benign Het
Plin3 C T 17: 56,284,337 A148T probably benign Het
Ppp1r8 T C 4: 132,840,631 probably benign Het
Ppp2r3a A G 9: 101,211,312 L604P probably damaging Het
Prdm5 T C 6: 65,883,601 V239A probably damaging Het
Prickle1 A G 15: 93,500,638 S770P probably damaging Het
Prl2c5 T A 13: 13,190,725 I155N probably benign Het
Prom1 T C 5: 44,032,932 probably benign Het
Psg25 C T 7: 18,529,587 G104R probably damaging Het
Rbm19 T C 5: 120,144,029 V817A probably benign Het
Ryr2 T A 13: 11,727,022 Y2091F probably damaging Het
Slc16a4 A G 3: 107,300,932 T253A probably benign Het
Smg7 A T 1: 152,855,843 probably null Het
Spink5 C A 18: 44,007,719 H662N probably benign Het
Taf2 A T 15: 55,059,915 M322K probably damaging Het
Tmc2 T C 2: 130,248,762 F676S probably damaging Het
Tmem177 A G 1: 119,910,185 S255P possibly damaging Het
Trim46 A T 3: 89,235,068 probably null Het
Tubb1 T A 2: 174,450,803 probably null Het
Upf1 T C 8: 70,344,254 T110A probably benign Het
Vmn2r9 T A 5: 108,848,984 I140L probably benign Het
Zfp638 T A 6: 83,944,656 H588Q probably damaging Het
Zfp780b T A 7: 27,964,827 N101I 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
R1650:Lca5l UTSW 16 96178940 critical splice acceptor site probably null
R1669:Lca5l UTSW 16 96159808 missense possibly damaging 0.95
R1706:Lca5l UTSW 16 96175964 missense probably benign 0.41
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
Predicted Primers PCR Primer
(F):5'- TGCTCTTTCTGTCGCGGAATGC -3'
(R):5'- AATGCTCAGAATCGGCCTGTGC -3'

Sequencing Primer
(F):5'- atcgcctgcatcgcctg -3'
(R):5'- ctgtgctggggccagag -3'
Posted On2014-03-14