Incidental Mutation 'IGL01859:Rnase1'
ID 178260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnase1
Ensembl Gene ENSMUSG00000035896
Gene Name ribonuclease, RNase A family, 1 (pancreatic)
Synonyms Rib1, Rib-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01859
Quality Score
Status
Chromosome 14
Chromosomal Location 51382459-51384224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 51383260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 31 (Q31H)
Ref Sequence ENSEMBL: ENSMUSP00000079025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080126]
AlphaFold no structure available at present
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: 103,963,336 (GRCm39) probably benign Het
Ak7 A G 12: 105,711,556 (GRCm39) M398V probably null Het
Angptl3 C T 4: 98,925,669 (GRCm39) R332* probably null Het
Ano7 A G 1: 93,322,168 (GRCm39) Y392C probably damaging Het
Arpc1b T C 5: 145,060,540 (GRCm39) F18L probably damaging Het
Cdc23 G T 18: 34,784,459 (GRCm39) P73Q probably benign Het
Cdkl1 A C 12: 69,806,903 (GRCm39) L111R probably damaging Het
Cntnap2 A G 6: 46,965,655 (GRCm39) D822G probably damaging Het
Col6a5 G A 9: 105,808,160 (GRCm39) R963* probably null Het
Crocc T C 4: 140,756,601 (GRCm39) D1008G probably benign Het
Dntt G T 19: 41,025,743 (GRCm39) M120I probably benign Het
Dock1 A G 7: 134,678,890 (GRCm39) Y1003C possibly damaging Het
Fam178b T A 1: 36,698,446 (GRCm39) R92W probably damaging Het
Fermt2 A G 14: 45,697,413 (GRCm39) V646A possibly damaging Het
Foxc1 T C 13: 31,992,706 (GRCm39) S506P unknown Het
Gtpbp1 T A 15: 79,603,341 (GRCm39) V610E probably benign Het
H2-T15 A T 17: 36,368,903 (GRCm39) M59K possibly damaging Het
Hsdl2 T C 4: 59,601,569 (GRCm39) probably null Het
Itgb8 T A 12: 119,153,680 (GRCm39) R278S probably damaging Het
Kcnh7 T A 2: 62,552,132 (GRCm39) D953V probably benign Het
Med13 A T 11: 86,174,577 (GRCm39) D1749E possibly damaging Het
Mocos G T 18: 24,799,717 (GRCm39) probably benign Het
Pcdhb20 T G 18: 37,637,616 (GRCm39) N47K probably damaging Het
Phf21a T A 2: 92,158,701 (GRCm39) F227L probably damaging Het
Piezo2 T C 18: 63,225,915 (GRCm39) E907G probably benign Het
Pla2g4e G T 2: 120,013,214 (GRCm39) Q369K possibly damaging Het
Ppp3cb A G 14: 20,559,517 (GRCm39) I413T probably damaging Het
Ptgis A G 2: 167,056,726 (GRCm39) probably null Het
Rasgrp1 A G 2: 117,119,899 (GRCm39) V452A probably benign Het
Rbms3 T A 9: 116,788,606 (GRCm39) D105V probably damaging Het
Rnase13 G T 14: 52,159,760 (GRCm39) N126K probably damaging Het
Sema5b G T 16: 35,467,479 (GRCm39) V248L possibly damaging Het
Serpinb12 G A 1: 106,881,564 (GRCm39) probably null Het
Slc4a11 A T 2: 130,526,914 (GRCm39) L738Q probably damaging Het
Spta1 A T 1: 174,001,938 (GRCm39) I23F probably damaging Het
Stk-ps2 A T 1: 46,069,202 (GRCm39) noncoding transcript Het
Tcp1 A G 17: 13,141,571 (GRCm39) E350G possibly damaging Het
Tonsl T C 15: 76,518,980 (GRCm39) K518E probably damaging Het
Trim34a A G 7: 103,910,149 (GRCm39) E317G probably damaging Het
Trit1 A G 4: 122,943,344 (GRCm39) S335G probably benign Het
Usp28 G T 9: 48,935,321 (GRCm39) E91* probably null Het
Vmn2r56 A G 7: 12,449,932 (GRCm39) L102P probably damaging Het
Wwtr1 A C 3: 57,384,938 (GRCm39) L203R possibly damaging Het
Zfp110 T C 7: 12,583,467 (GRCm39) V705A possibly damaging Het
Zfp955a T C 17: 33,462,693 (GRCm39) N67S probably benign Het
Other mutations in Rnase1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Rnase1 APN 14 51,383,003 (GRCm39) missense probably benign 0.02
IGL01103:Rnase1 APN 14 51,383,079 (GRCm39) missense probably benign 0.01
R2424:Rnase1 UTSW 14 51,383,004 (GRCm39) missense possibly damaging 0.56
R4275:Rnase1 UTSW 14 51,383,327 (GRCm39) missense probably damaging 0.99
R5579:Rnase1 UTSW 14 51,383,219 (GRCm39) missense probably benign
R5807:Rnase1 UTSW 14 51,382,907 (GRCm39) missense probably benign 0.31
R9090:Rnase1 UTSW 14 51,382,964 (GRCm39) missense possibly damaging 0.63
R9271:Rnase1 UTSW 14 51,382,964 (GRCm39) missense possibly damaging 0.63
Posted On 2014-05-07