Incidental Mutation 'IGL02592:Rnase6'
ID299775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnase6
Ensembl Gene ENSMUSG00000021880
Gene Nameribonuclease, RNase A family, 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02592
Quality Score
Status
Chromosome14
Chromosomal Location51123908-51132187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51130525 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 125 (Y125H)
Ref Sequence ENSEMBL: ENSMUSP00000154125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095923] [ENSMUST00000226194] [ENSMUST00000226210]
Predicted Effect probably benign
Transcript: ENSMUST00000095923
AA Change: Y125H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093613
Gene: ENSMUSG00000021880
AA Change: Y125H

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
RNAse_Pc 30 153 4.83e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226194
AA Change: Y125H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000226210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228752
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps G A 14: 12,473,465 R899C probably damaging Het
Cass4 T C 2: 172,416,328 L82P probably benign Het
Cd53 C A 3: 106,763,285 C144F probably damaging Het
Fancc G A 13: 63,360,197 R175W probably damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gpr149 T C 3: 62,603,810 D256G possibly damaging Het
Kdm5b T A 1: 134,624,853 M1189K probably damaging Het
Lvrn T A 18: 46,850,591 C134S probably damaging Het
Mroh8 A T 2: 157,216,969 Y926N probably damaging Het
Nfxl1 A G 5: 72,514,229 S896P probably benign Het
Orc4 A T 2: 48,933,078 probably null Het
Pcsk6 T A 7: 65,969,028 H447Q probably damaging Het
Rfx6 C A 10: 51,716,023 Q121K probably damaging Het
Sbno1 A T 5: 124,400,809 Y494N probably damaging Het
Sppl3 G A 5: 115,095,911 V347M probably damaging Het
Tlr12 G A 4: 128,617,686 T257M probably benign Het
Tmem132e A T 11: 82,434,636 D154V probably damaging Het
Zfp345 A G 2: 150,473,309 Y103H probably benign Het
Zfp947 T A 17: 22,146,252 Q147L possibly damaging Het
Other mutations in Rnase6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Rnase6 APN 14 51130291 missense probably benign 0.08
R1960:Rnase6 UTSW 14 51130432 missense possibly damaging 0.95
R2167:Rnase6 UTSW 14 51130517 missense probably benign
R5197:Rnase6 UTSW 14 51130213 missense unknown
Posted On2015-04-16