Incidental Mutation 'IGL01859:Rnase1'
ID178260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnase1
Ensembl Gene ENSMUSG00000035896
Gene Nameribonuclease, RNase A family, 1 (pancreatic)
SynonymsRib1, Rib-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01859
Quality Score
Status
Chromosome14
Chromosomal Location51144998-51146785 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 51145803 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 31 (Q31H)
Ref Sequence ENSEMBL: ENSMUSP00000079025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080126]
Predicted Effect probably benign
Transcript: ENSMUST00000080126
AA Change: Q31H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000079025
Gene: ENSMUSG00000035896
AA Change: Q31H

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
RNAse_Pc 26 149 4.35e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226251
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S probably benign Het
Other mutations in Rnase1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Rnase1 APN 14 51145546 missense probably benign 0.02
IGL01103:Rnase1 APN 14 51145622 missense probably benign 0.01
R2424:Rnase1 UTSW 14 51145547 missense possibly damaging 0.56
R4275:Rnase1 UTSW 14 51145870 missense probably damaging 0.99
R5579:Rnase1 UTSW 14 51145762 missense probably benign
R5807:Rnase1 UTSW 14 51145450 missense probably benign 0.31
Posted On2014-05-07