Incidental Mutation 'IGL01998:Rsl1d1'
ID182942
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: 0.945) question?
Stock #IGL01998
Quality Score
Status
Chromosome16
Chromosomal Location11192970-11203331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11194645 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 306 (S306P)
Ref Sequence ENSEMBL: ENSMUSP00000113431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119953] [ENSMUST00000230002]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119953
AA Change: S306P

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: S306P

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 unknown
Transcript: ENSMUST00000230002
AA Change: S190P
Predicted Effect probably benign
Transcript: ENSMUST00000230232
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,194,179 D205E probably benign Het
4930435E12Rik A T 16: 38,828,224 D174E probably benign Het
4932438A13Rik T C 3: 36,957,016 S1788P possibly damaging Het
Arpc3 T C 5: 122,403,407 C78R probably damaging Het
Atp6v0b A G 4: 117,886,066 probably null Het
B3gnt8 A G 7: 25,628,778 Y211C probably damaging Het
Birc6 T C 17: 74,579,885 I736T probably benign Het
Bpifb9a T C 2: 154,268,200 probably null Het
C3ar1 A T 6: 122,850,940 M106K probably damaging Het
Cab39l T A 14: 59,496,895 L21Q probably damaging Het
Casp1 A T 9: 5,303,043 I166F probably damaging Het
Cd180 A G 13: 102,705,214 E256G probably damaging Het
Clca4a T C 3: 144,958,126 T519A probably damaging Het
Clstn3 A T 6: 124,458,663 L233Q probably damaging Het
Crlf3 G A 11: 80,058,019 probably benign Het
Depdc5 T C 5: 32,945,151 probably benign Het
Drc7 T A 8: 95,059,193 C226S probably damaging Het
Epha5 T A 5: 84,084,734 D807V probably damaging Het
Fat2 A G 11: 55,296,195 L1275P probably benign Het
Fv1 T C 4: 147,869,327 C117R possibly damaging Het
Ighg2b C A 12: 113,307,089 M140I unknown Het
Klra5 A T 6: 129,906,713 Y60* probably null Het
Lmtk2 C T 5: 144,176,065 T1201I probably damaging Het
Ncapd2 A T 6: 125,169,933 L1230H probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nfx1 T A 4: 41,004,353 I708N probably damaging Het
Notch2 A T 3: 98,143,106 D1899V probably damaging Het
Npepl1 T A 2: 174,116,200 probably benign Het
Nps T A 7: 135,268,752 probably benign Het
Nrg1 T C 8: 31,918,134 S24G probably damaging Het
Olfr330 A T 11: 58,529,577 Y136* probably null Het
Olfr352 A G 2: 36,869,646 N27D probably benign Het
Olfr698 G A 7: 106,752,551 T279M possibly damaging Het
Olfr730 C A 14: 50,186,648 V190L probably benign Het
Pigx G T 16: 32,084,610 T211K probably benign Het
Pink1 A G 4: 138,320,742 I223T probably damaging Het
Plat G A 8: 22,767,147 A15T probably benign Het
Ptges2 G A 2: 32,401,530 A310T possibly damaging Het
Rxfp1 T C 3: 79,660,096 K316E probably benign Het
Scn10a A G 9: 119,609,676 I1708T probably damaging Het
Sdk2 A T 11: 113,838,532 F1073Y probably damaging Het
Sp100 A G 1: 85,666,929 D170G probably benign Het
Spock1 A T 13: 57,436,181 probably benign Het
Strbp A G 2: 37,625,285 L243P probably damaging Het
Tgm5 T A 2: 121,052,439 T446S probably damaging Het
Tmem59l C T 8: 70,484,781 V239I probably benign Het
Trav8-1 A T 14: 53,470,205 T101S probably benign Het
Triml1 T C 8: 43,141,313 D27G probably damaging Het
Vmn2r54 T C 7: 12,615,300 E785G probably benign Het
Vps13c A G 9: 67,955,068 probably null Het
Wwp2 C T 8: 107,549,521 R64C probably damaging Het
Zfp608 T C 18: 54,891,818 H1460R probably 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
IGL02077:Rsl1d1 APN 16 11194456 unclassified probably benign
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
R7935:Rsl1d1 UTSW 16 11203234 missense probably benign
Z1088:Rsl1d1 UTSW 16 11202385 missense possibly damaging 0.93
Posted On2014-05-07