Incidental Mutation 'IGL01727:Rilpl1'
ID105338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rilpl1
Ensembl Gene ENSMUSG00000029392
Gene NameRab interacting lysosomal protein-like 1
Synonyms2900002H16Rik, 6330559I19Rik, GOSPEL
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01727
Quality Score
Status
Chromosome5
Chromosomal Location124493080-124531391 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124530944 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 14 (A14T)
Ref Sequence ENSEMBL: ENSMUSP00000050014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062153]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062153
AA Change: A14T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050014
Gene: ENSMUSG00000029392
AA Change: A14T

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 27 175 2.3e-47 PFAM
Pfam:RILP 298 351 4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198678
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,121,553 A292V probably benign Het
Ankrd26 A G 6: 118,511,636 L1354P probably damaging Het
Aox1 T A 1: 58,073,228 C720* probably null Het
Aqp5 T C 15: 99,591,621 L117P probably damaging Het
BC005561 A G 5: 104,519,513 T634A probably benign Het
Col9a3 T C 2: 180,616,565 probably null Het
Ctrc T C 4: 141,843,761 Y56C probably damaging Het
Dsc2 T A 18: 20,038,200 T581S probably benign Het
Grap2 T C 15: 80,634,409 I51T probably damaging Het
Herc2 A G 7: 56,137,806 Y1737C probably damaging Het
Hook3 A G 8: 26,070,159 M346T probably benign Het
Lancl1 C T 1: 67,020,942 C108Y probably damaging Het
Lpin2 T C 17: 71,246,452 C824R probably damaging Het
Mlip T C 9: 77,239,748 S88G probably damaging Het
Mtdh T G 15: 34,083,109 L25R probably damaging Het
Musk A G 4: 58,303,887 I177V probably benign Het
Nov G A 15: 54,746,238 A45T probably benign Het
Olfr1148 T C 2: 87,833,500 S154P probably damaging Het
Olfr1186 A G 2: 88,525,927 M115V probably benign Het
Olfr1504 A G 19: 13,887,878 C111R probably damaging Het
Pabpc4l C A 3: 46,446,665 E181D probably damaging Het
Pcdh18 A G 3: 49,755,700 S389P probably damaging Het
Ptk7 A G 17: 46,572,548 Y864H probably damaging Het
Rbp4 A G 19: 38,124,052 V155A probably benign Het
Rnf148 T A 6: 23,655,002 probably benign Het
Rnf219 G A 14: 104,479,387 R517* probably null Het
Ska2 T A 11: 87,116,147 L26Q probably damaging Het
Slc29a2 T A 19: 5,026,458 F125I probably damaging Het
Smap2 A G 4: 120,982,208 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Supt7l A G 5: 31,520,342 V160A possibly damaging Het
Susd1 A G 4: 59,412,329 probably benign Het
Syne1 T C 10: 5,047,842 D375G probably damaging Het
Tpst2 G A 5: 112,309,858 D351N probably damaging Het
Trcg1 T A 9: 57,242,594 I483N probably damaging Het
Trcg1 T C 9: 57,242,273 I376T probably benign Het
Tsga10 T C 1: 37,835,274 E148G probably damaging Het
Zranb1 G T 7: 132,966,620 D336Y probably damaging Het
Other mutations in Rilpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Rilpl1 APN 5 124503649 missense probably damaging 1.00
R0973:Rilpl1 UTSW 5 124501871 missense probably benign 0.01
R0973:Rilpl1 UTSW 5 124501888 missense possibly damaging 0.72
R0973:Rilpl1 UTSW 5 124501871 missense probably benign 0.01
R0973:Rilpl1 UTSW 5 124501888 missense possibly damaging 0.72
R0974:Rilpl1 UTSW 5 124501871 missense probably benign 0.01
R0974:Rilpl1 UTSW 5 124501888 missense possibly damaging 0.72
R1056:Rilpl1 UTSW 5 124493837 missense probably damaging 1.00
R1539:Rilpl1 UTSW 5 124515555 missense probably damaging 1.00
R1800:Rilpl1 UTSW 5 124514656 missense probably damaging 1.00
R1928:Rilpl1 UTSW 5 124514750 unclassified probably benign
R4661:Rilpl1 UTSW 5 124514688 missense probably benign 0.32
R4804:Rilpl1 UTSW 5 124493765 missense probably damaging 1.00
R4904:Rilpl1 UTSW 5 124514744 unclassified probably null
R4937:Rilpl1 UTSW 5 124515531 missense possibly damaging 0.64
R5034:Rilpl1 UTSW 5 124493824 missense probably damaging 1.00
R6301:Rilpl1 UTSW 5 124514539 missense probably damaging 1.00
R7009:Rilpl1 UTSW 5 124503692 synonymous silent
R7681:Rilpl1 UTSW 5 124530913 missense possibly damaging 0.82
Posted On2014-01-21