Incidental Mutation 'IGL00499:Lrrc30'
ID3436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc30
Ensembl Gene ENSMUSG00000073375
Gene Nameleucine rich repeat containing 30
SynonymsLOC240131
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00499
Quality Score
Status
Chromosome17
Chromosomal Location67630965-67632723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 67632039 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 182 (F182S)
Ref Sequence ENSEMBL: ENSMUSP00000094893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097290]
Predicted Effect probably damaging
Transcript: ENSMUST00000097290
AA Change: F182S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: F182S

DomainStartEndE-ValueType
LRR_TYP 69 92 1.67e-2 SMART
LRR 115 138 1.73e0 SMART
LRR 139 160 1.91e1 SMART
LRR_TYP 161 184 2.53e-2 SMART
Blast:LRR 207 229 1e-5 BLAST
LRR 230 253 3.29e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,875,308 noncoding transcript Het
Abcb9 T C 5: 124,077,238 D480G possibly damaging Het
Adam26a A T 8: 43,568,859 N531K possibly damaging Het
AW554918 A T 18: 25,420,065 K542* probably null Het
Blk A G 14: 63,380,720 F246L probably damaging Het
Camk1 T C 6: 113,336,211 E292G probably benign Het
Ccdc88a C T 11: 29,499,341 T261I probably benign Het
Cep290 A T 10: 100,543,327 Q57L probably damaging Het
Cpsf1 A T 15: 76,600,216 H688Q probably benign Het
Cryz T C 3: 154,604,942 V13A possibly damaging Het
Dst A G 1: 34,290,423 K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 V371E possibly damaging Het
Eps8 C A 6: 137,522,888 E181* probably null Het
Flt4 T C 11: 49,635,261 I796T probably damaging Het
Gmps A G 3: 64,014,367 N597S probably benign Het
Itgav T A 2: 83,802,995 M1011K probably damaging Het
Kif16b A G 2: 142,857,324 M112T probably damaging Het
Lig1 T C 7: 13,298,830 probably null Het
Oxsm A T 14: 16,242,076 M231K probably damaging Het
Pnisr T C 4: 21,870,407 probably null Het
Rsrc1 A T 3: 67,082,600 probably benign Het
Setd1b A T 5: 123,158,747 probably benign Het
Tbx6 A G 7: 126,781,529 Y8C probably damaging Het
Tmem33 T C 5: 67,284,195 Y196H probably damaging Het
Traf5 T C 1: 192,057,174 D96G possibly damaging Het
Tsc22d1 T A 14: 76,418,917 D945E probably damaging Het
Tubb2b T C 13: 34,128,346 I155V probably benign Het
Usp13 T A 3: 32,881,411 Y328N probably damaging Het
Usp17lc G A 7: 103,418,466 D323N probably damaging Het
Usp17lc G A 7: 103,418,465 M322I probably damaging Het
Zfp341 C T 2: 154,634,231 T446I probably damaging Het
Zfp407 A G 18: 84,561,752 L412P probably damaging Het
Zfp521 T A 18: 13,939,120 D21V probably benign Het
Zranb1 A G 7: 132,982,504 probably benign Het
Other mutations in Lrrc30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Lrrc30 APN 17 67632504 missense probably benign 0.00
IGL02500:Lrrc30 APN 17 67631862 missense probably damaging 1.00
R1666:Lrrc30 UTSW 17 67632205 missense probably benign 0.39
R1769:Lrrc30 UTSW 17 67631681 makesense probably null
R2079:Lrrc30 UTSW 17 67631880 missense possibly damaging 0.80
R3405:Lrrc30 UTSW 17 67632180 missense probably damaging 1.00
R3406:Lrrc30 UTSW 17 67632180 missense probably damaging 1.00
R4301:Lrrc30 UTSW 17 67632568 missense probably damaging 1.00
R6399:Lrrc30 UTSW 17 67632686 start gained probably benign
R6469:Lrrc30 UTSW 17 67631865 missense probably benign
R7079:Lrrc30 UTSW 17 67632021 missense possibly damaging 0.96
R7454:Lrrc30 UTSW 17 67632243 missense probably damaging 0.97
X0027:Lrrc30 UTSW 17 67632459 missense probably damaging 1.00
Z1088:Lrrc30 UTSW 17 67631695 missense possibly damaging 0.93
Posted On2012-04-20