Incidental Mutation 'R6395:Rnasel'
ID 514691
Institutional Source Beutler Lab
Gene Symbol Rnasel
Ensembl Gene ENSMUSG00000066800
Gene Name ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent)
Synonyms 2-5A-dependent RNAase, E230029I04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R6395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 153625172-153639967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153637867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 680 (M680T)
Ref Sequence ENSEMBL: ENSMUSP00000083385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086209] [ENSMUST00000182538] [ENSMUST00000182722] [ENSMUST00000183241]
AlphaFold Q05921
Predicted Effect probably damaging
Transcript: ENSMUST00000086209
AA Change: M680T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083385
Gene: ENSMUSG00000066800
AA Change: M680T

DomainStartEndE-ValueType
ANK 24 53 6.07e0 SMART
ANK 58 87 6.65e-6 SMART
ANK 91 120 2.73e-2 SMART
ANK 124 153 2.13e-4 SMART
ANK 167 197 6.36e-3 SMART
ANK 201 234 1.06e1 SMART
ANK 238 268 4.13e-2 SMART
ANK 272 301 7.3e-3 SMART
Pfam:Pkinase 365 521 4.9e-19 PFAM
Pfam:Pkinase_Tyr 365 523 6.1e-14 PFAM
Pfam:Kdo 451 546 8e-8 PFAM
PUG 656 707 2.33e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182131
Predicted Effect possibly damaging
Transcript: ENSMUST00000182538
AA Change: M172T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138734
Gene: ENSMUSG00000066800
AA Change: M172T

DomainStartEndE-ValueType
PUG 148 199 2.33e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182722
SMART Domains Protein: ENSMUSP00000138247
Gene: ENSMUSG00000066800

DomainStartEndE-ValueType
ANK 24 53 6.07e0 SMART
ANK 58 87 6.65e-6 SMART
ANK 91 120 2.73e-2 SMART
ANK 124 153 2.13e-4 SMART
ANK 167 197 6.36e-3 SMART
ANK 201 234 1.06e1 SMART
ANK 238 268 4.13e-2 SMART
ANK 272 301 7.3e-3 SMART
Pfam:Pkinase_Tyr 364 523 2.4e-13 PFAM
Pfam:Pkinase 365 520 2.1e-18 PFAM
Pfam:Kdo 452 546 9.3e-7 PFAM
Pfam:Ribonuc_2-5A 589 651 2.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183241
SMART Domains Protein: ENSMUSP00000138752
Gene: ENSMUSG00000066800

DomainStartEndE-ValueType
ANK 24 53 6.07e0 SMART
ANK 58 87 6.65e-6 SMART
ANK 91 120 2.73e-2 SMART
ANK 124 153 2.13e-4 SMART
ANK 167 197 6.36e-3 SMART
ANK 201 234 1.06e1 SMART
ANK 238 268 4.13e-2 SMART
ANK 272 301 7.3e-3 SMART
Pfam:Pkinase_Tyr 364 523 2.6e-13 PFAM
Pfam:Pkinase 365 517 2.4e-18 PFAM
Pfam:Kdo 452 546 9.7e-7 PFAM
Pfam:Ribonuc_2-5A 589 674 1.7e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an enlarged spleen and increased succeptibility to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging Het
Other mutations in Rnasel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Rnasel APN 1 153,634,130 (GRCm39) missense probably benign 0.04
IGL02662:Rnasel APN 1 153,629,857 (GRCm39) missense probably damaging 1.00
IGL03215:Rnasel APN 1 153,634,301 (GRCm39) missense probably damaging 1.00
R0022:Rnasel UTSW 1 153,636,521 (GRCm39) missense probably damaging 1.00
R0022:Rnasel UTSW 1 153,636,521 (GRCm39) missense probably damaging 1.00
R0028:Rnasel UTSW 1 153,630,465 (GRCm39) missense probably benign 0.04
R0116:Rnasel UTSW 1 153,630,258 (GRCm39) missense probably damaging 1.00
R0981:Rnasel UTSW 1 153,635,345 (GRCm39) missense probably benign 0.03
R1523:Rnasel UTSW 1 153,631,759 (GRCm39) missense probably damaging 0.98
R1538:Rnasel UTSW 1 153,636,540 (GRCm39) missense possibly damaging 0.62
R1646:Rnasel UTSW 1 153,630,800 (GRCm39) missense probably damaging 1.00
R1793:Rnasel UTSW 1 153,630,169 (GRCm39) missense probably damaging 0.98
R1843:Rnasel UTSW 1 153,630,420 (GRCm39) missense possibly damaging 0.94
R2158:Rnasel UTSW 1 153,630,647 (GRCm39) missense probably damaging 1.00
R2434:Rnasel UTSW 1 153,630,396 (GRCm39) missense probably damaging 1.00
R2895:Rnasel UTSW 1 153,636,522 (GRCm39) missense probably damaging 1.00
R4107:Rnasel UTSW 1 153,630,542 (GRCm39) missense probably benign 0.00
R5013:Rnasel UTSW 1 153,629,677 (GRCm39) missense probably damaging 0.99
R5015:Rnasel UTSW 1 153,629,843 (GRCm39) nonsense probably null
R5540:Rnasel UTSW 1 153,630,890 (GRCm39) nonsense probably null
R5688:Rnasel UTSW 1 153,629,452 (GRCm39) start gained probably benign
R5955:Rnasel UTSW 1 153,630,146 (GRCm39) missense probably benign 0.05
R6131:Rnasel UTSW 1 153,630,206 (GRCm39) missense probably damaging 1.00
R6164:Rnasel UTSW 1 153,630,138 (GRCm39) missense probably benign 0.32
R6483:Rnasel UTSW 1 153,630,432 (GRCm39) missense probably benign 0.10
R7470:Rnasel UTSW 1 153,629,777 (GRCm39) missense probably benign 0.00
R7538:Rnasel UTSW 1 153,630,306 (GRCm39) missense probably benign 0.03
R8310:Rnasel UTSW 1 153,630,734 (GRCm39) missense possibly damaging 0.87
R8804:Rnasel UTSW 1 153,629,661 (GRCm39) missense probably damaging 1.00
R8813:Rnasel UTSW 1 153,629,641 (GRCm39) missense probably damaging 1.00
R8947:Rnasel UTSW 1 153,630,777 (GRCm39) missense probably damaging 1.00
R9239:Rnasel UTSW 1 153,630,097 (GRCm39) missense probably damaging 1.00
R9552:Rnasel UTSW 1 153,630,673 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TCTAGGGATAGGGCCATGTG -3'
(R):5'- AAGACTCAGCTCTGTATGCC -3'

Sequencing Primer
(F):5'- ATAGGGCCATGTGAGGGTC -3'
(R):5'- AGCTCTGTATGCCCCCTGG -3'
Posted On 2018-05-04