Incidental Mutation 'R7919:Rsl1d1'
ID648251
Institutional Source Beutler Lab
Gene Symbol Rsl1d1
Ensembl Gene ENSMUSG00000005846
Gene Nameribosomal L1 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #R7919 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location11192970-11203331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11202433 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 44 (S44P)
Ref Sequence ENSEMBL: ENSMUSP00000113431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119953] [ENSMUST00000230002]
Predicted Effect probably benign
Transcript: ENSMUST00000119953
AA Change: S44P

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: S44P

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 possibly damaging
Transcript: ENSMUST00000230002
AA Change: S43P

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000230232
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T G 3: 138,179,550 K95T probably damaging Het
9430097D07Rik T C 2: 32,574,449 T113A unknown Het
Abcc2 T C 19: 43,816,809 Y701H probably damaging Het
Adcy2 T A 13: 68,887,972 H190L probably benign Het
Arhgef15 T C 11: 68,947,605 T623A probably benign Het
Armc3 A G 2: 19,286,095 T462A probably benign Het
Calhm2 C T 19: 47,133,008 V241M possibly damaging Het
Cdc25c T C 18: 34,735,376 I314V probably damaging Het
Cntrl G A 2: 35,127,401 D407N probably benign Het
Dnah5 A G 15: 28,350,596 E2588G probably damaging Het
Dnm1 T A 2: 32,339,978 N178Y probably damaging Het
Eaf2 T A 16: 36,810,552 E86D probably damaging Het
Elf1 C A 14: 79,560,899 D75E probably benign Het
Fem1c T C 18: 46,524,303 T115A probably damaging Het
Garnl3 A G 2: 33,046,599 V186A probably benign Het
Gatb T A 3: 85,604,521 S194R probably damaging Het
Gm10775 T A 13: 65,260,099 N71K unknown Het
Gm19965 T A 1: 116,822,120 C510* probably null Het
Hydin A G 8: 110,267,339 T2A unknown Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Jag1 G A 2: 137,088,446 T726M probably damaging Het
Kank1 A G 19: 25,431,075 D1306G probably damaging Het
Krt26 T A 11: 99,333,594 E366V probably damaging Het
Ksr2 A G 5: 117,761,353 E872G possibly damaging Het
Med6 G A 12: 81,573,847 R242* probably null Het
Meis2 A G 2: 115,867,307 V370A probably benign Het
Mta2 C T 19: 8,949,134 R480* probably null Het
Mup3 A T 4: 62,084,592 N177K probably damaging Het
Myo15 T A 11: 60,526,530 V3435E probably damaging Het
Ncapg A G 5: 45,696,048 T880A probably benign Het
Obox1 A T 7: 15,556,331 K200* probably null Het
Olfr1045 A T 2: 86,198,265 C162* probably null Het
Ovgp1 T A 3: 105,981,285 V319D probably damaging Het
Plxdc2 A T 2: 16,548,225 I145F probably damaging Het
Prr30 T C 14: 101,199,111 N5S possibly damaging Het
Ptcd3 T C 6: 71,903,454 Y95C probably damaging Het
Sh3gl2 A G 4: 85,355,358 E49G probably benign Het
Shroom1 A G 11: 53,463,393 T47A probably benign Het
Slc20a1 G A 2: 129,207,837 D340N probably benign Het
Stx1b A G 7: 127,807,335 S281P probably benign Het
Tg A T 15: 66,684,074 I872F possibly damaging Het
Ubqln3 C T 7: 104,141,192 A564T probably benign Het
Vsnl1 T C 12: 11,332,086 E98G possibly damaging Het
Vwf T C 6: 125,647,859 L1857P Het
Wars C T 12: 108,881,104 E125K probably benign Het
Wnt16 G A 6: 22,291,050 S159N probably benign Het
Zcchc14 A G 8: 121,604,173 F817S probably damaging Het
Zufsp A G 10: 33,949,112 S125P 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
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
Z1088:Rsl1d1 UTSW 16 11202385 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GAGACCAAATGCAGGATTGTACA -3'
(R):5'- TTGCCCAATAGAAAGAGGAGC -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- GCCAGCCTGGACTAAGTATTC -3'
Posted On2020-09-15