Incidental Mutation 'R4275:Rnase1'
ID 324770
Institutional Source Beutler Lab
Gene Symbol Rnase1
Ensembl Gene ENSMUSG00000035896
Gene Name ribonuclease, RNase A family, 1 (pancreatic)
Synonyms Rib1, Rib-1
MMRRC Submission 041646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4275 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51382459-51384224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51383327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 9 (L9Q)
Ref Sequence ENSEMBL: ENSMUSP00000079025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080126]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080126
AA Change: L9Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079025
Gene: ENSMUSG00000035896
AA Change: L9Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
RNAse_Pc 26 149 4.35e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226251
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (43/44)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1e T C 1: 154,369,071 (GRCm39) Y322C probably damaging Het
Camsap2 A G 1: 136,198,614 (GRCm39) V1462A probably benign Het
D3Ertd751e C A 3: 41,710,589 (GRCm39) probably benign Het
Dhcr7 C T 7: 143,396,964 (GRCm39) A152V probably damaging Het
Enpep A T 3: 129,125,927 (GRCm39) N68K probably benign Het
Fam131b G A 6: 42,298,241 (GRCm39) L43F probably damaging Het
Fbxl5 T A 5: 43,920,114 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Hycc2 T C 1: 58,569,092 (GRCm39) T440A probably benign Het
Igf2 T C 7: 142,209,523 (GRCm39) M46V probably benign Het
Kntc1 T A 5: 123,905,842 (GRCm39) Y367N probably damaging Het
Mapk8ip2 T C 15: 89,343,198 (GRCm39) W647R probably damaging Het
Mettl21c C T 1: 44,049,716 (GRCm39) V110I probably damaging Het
Mrgprh T C 17: 13,096,114 (GRCm39) L118P probably damaging Het
Myadm A G 7: 3,345,618 (GRCm39) T127A probably benign Het
Myh10 A T 11: 68,642,766 (GRCm39) probably null Het
Nadk T A 4: 155,668,712 (GRCm39) Y128N probably benign Het
Or5g27 T C 2: 85,410,207 (GRCm39) V208A probably benign Het
Or8k39 T C 2: 86,563,936 (GRCm39) T7A probably damaging Het
Papolg A G 11: 23,818,378 (GRCm39) I500T probably benign Het
Pkhd1 A T 1: 20,128,608 (GRCm39) C4032S probably benign Het
Rspry1 G T 8: 95,376,389 (GRCm39) V304L probably benign Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Scpep1 T C 11: 88,837,968 (GRCm39) probably null Het
Serpina3m T A 12: 104,355,375 (GRCm39) I14N probably damaging Het
Smg6 A C 11: 74,884,700 (GRCm39) probably benign Het
Suz12 T C 11: 79,920,879 (GRCm39) M593T probably damaging Het
Tmem139 A G 6: 42,241,039 (GRCm39) E208G probably damaging Het
Tnxb A G 17: 34,917,205 (GRCm39) Y2200C probably damaging Het
Usp19 T G 9: 108,375,893 (GRCm39) V911G probably damaging Het
Vipr1 T C 9: 121,493,684 (GRCm39) L245P probably damaging Het
Vmn2r105 T A 17: 20,448,902 (GRCm39) I92F probably damaging Het
Zbtb47 T A 9: 121,595,605 (GRCm39) V576D probably damaging Het
Zfp518b A G 5: 38,829,071 (GRCm39) V978A probably damaging 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
IGL01859:Rnase1 APN 14 51,383,260 (GRCm39) missense probably benign 0.00
R2424:Rnase1 UTSW 14 51,383,004 (GRCm39) missense possibly damaging 0.56
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
Predicted Primers PCR Primer
(F):5'- TGTTCACGGGCTTGCATGAC -3'
(R):5'- ACAGTCTTGAGATTGGGGC -3'

Sequencing Primer
(F):5'- CGGGCTTGCATGACCCATTTG -3'
(R):5'- TGGCTGCAGGGACTAGG -3'
Posted On 2015-06-24