Incidental Mutation 'IGL02077:Rsl1d1'
ID186018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsl1d1
Ensembl Gene ENSMUSG00000005846
Gene Nameribosomal L1 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #IGL02077
Quality Score
Status
Chromosome16
Chromosomal Location11192970-11203331 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 11194456 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000119953] [ENSMUST00000230002]
Predicted Effect probably benign
Transcript: ENSMUST00000119953
SMART Domains Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Ribosomal_L1 36 259 2.3e-52 PFAM
coiled coil region 281 313 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181206
Predicted Effect probably benign
Transcript: ENSMUST00000230002
Predicted Effect probably benign
Transcript: ENSMUST00000230232
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a G T 2: 113,837,471 T395K possibly damaging Het
Dopey2 T C 16: 93,780,760 S58P probably damaging Het
F5 T A 1: 164,198,866 V1669E probably damaging Het
Fndc7 T A 3: 108,883,468 T81S probably benign Het
Hnf4a G T 2: 163,562,607 probably null Het
Il27 C T 7: 126,594,879 probably null Het
Lhcgr G A 17: 88,750,130 T311I probably benign Het
Mafb A G 2: 160,365,767 S304P probably benign Het
Mfrp C T 9: 44,105,220 T404M probably damaging Het
Ntpcr T A 8: 125,737,368 Y77* probably null Het
Otof A G 5: 30,399,235 S301P probably damaging Het
Prpf6 G A 2: 181,640,664 G533R probably damaging Het
Prpf8 T A 11: 75,495,809 H1041Q probably damaging Het
Pyurf T C 6: 57,689,835 I81V probably benign Het
Sema6a A T 18: 47,283,398 D387E possibly damaging Het
Serpinb3a T G 1: 107,046,381 T267P probably damaging Het
Tgm7 A T 2: 121,103,835 M192K probably damaging Het
Thbs1 G T 2: 118,113,110 V70L probably benign Het
Thsd7b T A 1: 129,816,682 I769N probably damaging Het
Tlr9 A G 9: 106,225,505 Y665C possibly damaging Het
Ttn T C 2: 76,770,162 D18928G probably damaging Het
Uggt1 A G 1: 36,176,794 S131P probably damaging Het
Unc80 A G 1: 66,525,716 N854S possibly damaging Het
Vps13b A G 15: 35,910,613 T3508A possibly damaging Het
Wdr43 G A 17: 71,640,291 A381T probably benign Het
Zfyve26 A T 12: 79,276,395 M859K possibly damaging Het
Other mutations in Rsl1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Rsl1d1 APN 16 11199694 missense probably damaging 1.00
IGL01087:Rsl1d1 APN 16 11194675 missense possibly damaging 0.85
IGL01998:Rsl1d1 APN 16 11194645 missense possibly damaging 0.79
IGL02627:Rsl1d1 APN 16 11194551 missense possibly damaging 0.48
R0925:Rsl1d1 UTSW 16 11199689 missense probably damaging 1.00
R1017:Rsl1d1 UTSW 16 11203252 missense probably benign
R1671:Rsl1d1 UTSW 16 11201381 missense probably damaging 1.00
R4658:Rsl1d1 UTSW 16 11201374 missense probably damaging 1.00
R4915:Rsl1d1 UTSW 16 11199729 splice site probably null
R5265:Rsl1d1 UTSW 16 11201384 missense possibly damaging 0.82
R5545:Rsl1d1 UTSW 16 11199650 missense probably damaging 0.99
R6221:Rsl1d1 UTSW 16 11201311 missense probably damaging 0.99
R6970:Rsl1d1 UTSW 16 11193694 missense probably benign 0.06
R7852:Rsl1d1 UTSW 16 11203234 missense probably benign
R7919:Rsl1d1 UTSW 16 11202433 missense probably benign 0.18
Z1088:Rsl1d1 UTSW 16 11202385 missense possibly damaging 0.93
Posted On2014-05-07