Incidental Mutation 'IGL01929:Lrrc59'
ID 180381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc59
Ensembl Gene ENSMUSG00000020869
Gene Name leucine rich repeat containing 59
Synonyms C78668
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # IGL01929
Quality Score
Status
Chromosome 11
Chromosomal Location 94520603-94536049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94534342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 300 (V300A)
Ref Sequence ENSEMBL: ENSMUSP00000021239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021239] [ENSMUST00000039949]
AlphaFold Q922Q8
Predicted Effect possibly damaging
Transcript: ENSMUST00000021239
AA Change: V300A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869
AA Change: V300A

DomainStartEndE-ValueType
LRR 38 60 6.22e0 SMART
LRR 61 83 1.33e-1 SMART
LRR 84 106 3.75e0 SMART
LRR 107 131 1.09e2 SMART
coiled coil region 148 216 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039949
SMART Domains Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
ERCC4 252 515 2.06e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127158
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,251,445 (GRCm39) P467S probably benign Het
Areg T C 5: 91,292,312 (GRCm39) I204T probably benign Het
Dnah3 A T 7: 119,550,874 (GRCm39) Y3137* probably null Het
Dnajc10 T G 2: 80,158,420 (GRCm39) C270W probably damaging Het
Epc1 A G 18: 6,449,217 (GRCm39) F427L possibly damaging Het
Fcgbp A T 7: 27,803,388 (GRCm39) D1664V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6686 G A 17: 15,786,577 (GRCm39) probably benign Het
Grik4 C A 9: 42,477,594 (GRCm39) probably null Het
H2-Oa G A 17: 34,313,056 (GRCm39) probably null Het
Iigp1c A G 18: 60,379,554 (GRCm39) E363G probably benign Het
Il20ra T G 10: 19,635,019 (GRCm39) L420R probably benign Het
Kcnk2 A G 1: 189,072,227 (GRCm39) S34P probably damaging Het
Klc4 A G 17: 46,955,173 (GRCm39) probably null Het
Large1 T C 8: 73,585,903 (GRCm39) Y401C probably damaging Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nfrkb T A 9: 31,331,169 (GRCm39) I1230N possibly damaging Het
Or55b3 A G 7: 102,126,373 (GRCm39) S235P possibly damaging Het
Prr14l T C 5: 32,985,587 (GRCm39) T146A probably benign Het
Psmd5 A G 2: 34,753,478 (GRCm39) V221A probably damaging Het
Ptchd4 A T 17: 42,814,213 (GRCm39) T705S probably benign Het
Ptprm G A 17: 66,997,544 (GRCm39) A1184V probably damaging Het
Rb1cc1 G T 1: 6,310,383 (GRCm39) K260N possibly damaging Het
Rbm28 T A 6: 29,128,584 (GRCm39) D46V possibly damaging Het
Sdk1 T C 5: 141,938,785 (GRCm39) Y403H probably damaging Het
Slco3a1 A G 7: 73,968,353 (GRCm39) probably benign Het
Slfn8 T A 11: 82,894,231 (GRCm39) K803* probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r130 A T 17: 23,295,851 (GRCm39) I674F possibly damaging Het
Vmn2r82 A T 10: 79,214,545 (GRCm39) D176V probably damaging Het
Wdr70 A T 15: 7,950,115 (GRCm39) probably null Het
Xdh A T 17: 74,241,850 (GRCm39) C150S probably damaging Het
Xpo5 G T 17: 46,513,855 (GRCm39) M3I probably benign Het
Other mutations in Lrrc59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Lrrc59 APN 11 94,529,426 (GRCm39) nonsense probably null
IGL01525:Lrrc59 APN 11 94,525,522 (GRCm39) missense probably damaging 0.99
IGL01958:Lrrc59 APN 11 94,529,354 (GRCm39) splice site probably null
IGL02635:Lrrc59 APN 11 94,534,282 (GRCm39) missense probably damaging 1.00
R0277:Lrrc59 UTSW 11 94,534,248 (GRCm39) missense probably damaging 1.00
R0323:Lrrc59 UTSW 11 94,534,248 (GRCm39) missense probably damaging 1.00
R1794:Lrrc59 UTSW 11 94,529,421 (GRCm39) missense probably benign
R4833:Lrrc59 UTSW 11 94,525,498 (GRCm39) missense probably benign 0.00
R6242:Lrrc59 UTSW 11 94,525,809 (GRCm39) missense possibly damaging 0.65
R6817:Lrrc59 UTSW 11 94,520,891 (GRCm39) missense probably damaging 1.00
R7709:Lrrc59 UTSW 11 94,525,811 (GRCm39) missense probably damaging 1.00
R7724:Lrrc59 UTSW 11 94,534,170 (GRCm39) missense probably damaging 0.99
R8066:Lrrc59 UTSW 11 94,525,426 (GRCm39) missense possibly damaging 0.88
R9143:Lrrc59 UTSW 11 94,525,456 (GRCm39) missense probably damaging 1.00
R9166:Lrrc59 UTSW 11 94,522,959 (GRCm39) missense probably benign 0.00
R9266:Lrrc59 UTSW 11 94,532,044 (GRCm39) critical splice acceptor site probably null
Z1176:Lrrc59 UTSW 11 94,534,147 (GRCm39) missense probably benign 0.19
Posted On 2014-05-07