Incidental Mutation 'IGL01861:Rnase6'
ID178327
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: 0.111) question?
Stock #IGL01861
Quality Score
Status
Chromosome14
Chromosomal Location51123908-51132187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 51130291 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 47 (Q47K)
Ref Sequence ENSEMBL: ENSMUSP00000154125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095923] [ENSMUST00000226194] [ENSMUST00000226210]
Predicted Effect probably benign
Transcript: ENSMUST00000095923
AA Change: Q47K

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000093613
Gene: ENSMUSG00000021880
AA Change: Q47K

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: Q47K

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 T C 17: 56,300,144 T34A possibly damaging Het
Atm C A 9: 53,494,612 R1252L probably null Het
Cd34 T C 1: 194,958,580 probably benign Het
Cmya5 A G 13: 93,089,748 V2944A probably damaging Het
Cntnap3 C T 13: 64,799,108 G169D probably damaging Het
Dnah7a T A 1: 53,640,349 T326S probably benign Het
Dnah7a C T 1: 53,584,449 probably benign Het
Fam133b A G 5: 3,564,242 probably benign Het
Fhod1 A G 8: 105,331,176 S906P probably damaging Het
Gli3 A G 13: 15,725,325 Y1099C probably damaging Het
Gpr63 C T 4: 25,008,545 T423M probably damaging Het
Hpx A T 7: 105,592,186 Y339* probably null Het
Lingo2 A T 4: 35,709,526 D151E probably benign Het
Mill2 A T 7: 18,856,640 Q215L probably damaging Het
Naf1 T C 8: 66,864,533 probably benign Het
Ndufv1 A G 19: 4,008,803 V235A probably benign Het
Olfr890 T C 9: 38,143,750 I205T probably damaging Het
Pafah1b1 A T 11: 74,690,577 N22K possibly damaging Het
Prune1 G T 3: 95,265,557 R66S probably damaging Het
Ptcd1 A T 5: 145,158,777 I291N possibly damaging Het
Ptprk A G 10: 28,383,445 I294V possibly damaging Het
Rfx6 G A 10: 51,721,579 V471M probably damaging Het
Skint5 T C 4: 113,559,824 probably benign Het
Srcap T A 7: 127,525,285 probably benign Het
Stap1 A G 5: 86,096,524 I217V possibly damaging Het
Taf1d T C 9: 15,308,739 probably null Het
Tecta T C 9: 42,373,362 H809R probably benign Het
Tex15 A G 8: 33,570,689 N49S probably damaging Het
Tubb4b-ps1 A G 5: 7,179,374 probably benign Het
Uhrf2 A G 19: 30,086,404 Y589C probably damaging Het
Zfp616 A T 11: 74,082,916 T4S possibly damaging Het
Zfp687 A T 3: 95,011,860 F200L probably damaging Het
Other mutations in Rnase6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02592:Rnase6 APN 14 51130525 missense probably benign 0.02
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 On2014-05-07