Incidental Mutation 'R1758:Rnase4'
ID 195123
Institutional Source Beutler Lab
Gene Symbol Rnase4
Ensembl Gene ENSMUSG00000021876
Gene Name ribonuclease, RNase A family 4
Synonyms C730049F20Rik
MMRRC Submission 039790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R1758 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51328534-51343608 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 51342722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 149 (*149Q)
Ref Sequence ENSEMBL: ENSMUSP00000127274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022428] [ENSMUST00000069011] [ENSMUST00000169895] [ENSMUST00000171688]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000022428
AA Change: *149Q
SMART Domains Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876
AA Change: *149Q

signal peptide 1 29 N/A INTRINSIC
RNAse_Pc 30 148 8.54e-60 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069011
SMART Domains Protein: ENSMUSP00000067434
Gene: ENSMUSG00000072115

low complexity region 5 21 N/A INTRINSIC
RNAse_Pc 26 142 6.52e-65 SMART
Predicted Effect probably null
Transcript: ENSMUST00000169895
AA Change: *149Q
SMART Domains Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876
AA Change: *149Q

signal peptide 1 29 N/A INTRINSIC
RNAse_Pc 30 148 8.54e-60 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171688
SMART Domains Protein: ENSMUSP00000132084
Gene: ENSMUSG00000072115

low complexity region 5 21 N/A INTRINSIC
RNAse_Pc 26 142 6.52e-65 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the pancreatic ribonuclease A superfamily. The encoded enzyme is sereted and has unique uridine specificity. This gene resides in a cluster of highly related genes. It shares dual promoters and 5' exons with the angiogenin, ribonuclease, RNase A family, 5 gene. Each gene splices to a unique downstream exon that contains its complete coding region. Two alternatively spliced variants, with different 5' exons but the same coding exon, have been identified. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,612,237 (GRCm39) R38G possibly damaging Het
4930590J08Rik T C 6: 91,892,203 (GRCm39) V155A possibly damaging Het
Adgb A G 10: 10,302,349 (GRCm39) S406P probably damaging Het
Adgrb2 C A 4: 129,905,668 (GRCm39) T893N probably damaging Het
Adgrf5 T C 17: 43,735,484 (GRCm39) probably null Het
Alms1 T A 6: 85,605,487 (GRCm39) I2379N probably damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf4 C T 15: 80,141,414 (GRCm39) T268I probably benign Het
Cblif G A 19: 11,735,179 (GRCm39) M266I probably damaging Het
Ccdc154 T C 17: 25,382,156 (GRCm39) L25P probably damaging Het
Ccdc9 G A 7: 16,010,161 (GRCm39) S381F probably damaging Het
Cdk17 C T 10: 93,044,112 (GRCm39) T17M probably damaging Het
Cep128 T C 12: 91,314,352 (GRCm39) N142S probably benign Het
Cep78 A G 19: 15,936,900 (GRCm39) I602T probably damaging Het
Clasp1 C T 1: 118,475,755 (GRCm39) T935I probably damaging Het
Cnr1 T C 4: 33,945,000 (GRCm39) S463P probably damaging Het
Cntnap1 T A 11: 101,075,449 (GRCm39) W876R probably damaging Het
Cntnap5c A G 17: 58,349,545 (GRCm39) D286G probably damaging Het
Copa C T 1: 171,931,711 (GRCm39) R321C probably damaging Het
Cspg4b A G 13: 113,505,266 (GRCm39) T2132A possibly damaging Het
Ctla2a T G 13: 61,083,256 (GRCm39) E98A probably damaging Het
Cux1 A T 5: 136,421,176 (GRCm39) D183E probably damaging Het
Cxcl15 A C 5: 90,949,323 (GRCm39) T163P unknown Het
Ddias T C 7: 92,508,571 (GRCm39) N448S probably benign Het
Dhx8 T C 11: 101,657,564 (GRCm39) F1152S probably damaging Het
Dnah12 C A 14: 26,488,071 (GRCm39) Q992K probably benign Het
Eno3 G T 11: 70,552,251 (GRCm39) W301L possibly damaging Het
Faap100 A T 11: 120,268,059 (GRCm39) V238E probably damaging Het
Fgf4 A G 7: 144,416,049 (GRCm39) S137G probably benign Het
Fhod3 A C 18: 25,253,367 (GRCm39) D1439A possibly damaging Het
Frem2 A G 3: 53,560,778 (GRCm39) L1243P probably damaging Het
Gkn3 T G 6: 87,365,817 (GRCm39) M1L probably benign Het
Gm10250 T C 15: 5,150,509 (GRCm39) probably benign Het
Gm12185 T C 11: 48,798,859 (GRCm39) T545A possibly damaging Het
Gm14226 T A 2: 154,867,378 (GRCm39) L445H probably damaging Het
Gm3404 A T 5: 146,463,036 (GRCm39) M73L probably benign Het
Gm973 G T 1: 59,673,169 (GRCm39) R976S unknown Het
Gpr146 A T 5: 139,379,137 (GRCm39) H313L probably benign Het
Gys2 T A 6: 142,418,432 (GRCm39) E32D probably damaging Het
Igsf10 G A 3: 59,236,617 (GRCm39) T1188I probably benign Het
Igsf9b A T 9: 27,245,548 (GRCm39) T1172S possibly damaging Het
Itga8 T A 2: 12,270,144 (GRCm39) N114I possibly damaging Het
Itsn2 T A 12: 4,708,160 (GRCm39) V795E possibly damaging Het
Kdm1b T A 13: 47,214,244 (GRCm39) S197T probably benign Het
Kif5c G A 2: 49,613,145 (GRCm39) R161Q probably benign Het
Krt33b T C 11: 99,916,361 (GRCm39) Y232C probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1 A T 10: 127,424,453 (GRCm39) N744K possibly damaging Het
Mcm10 C A 2: 5,008,861 (GRCm39) L369F probably damaging Het
Muc5ac T A 7: 141,355,268 (GRCm39) I1018N possibly damaging Het
Myom2 T C 8: 15,115,795 (GRCm39) L70P probably benign Het
Myt1l T A 12: 29,877,241 (GRCm39) N297K unknown Het
Ncr1 C T 7: 4,343,807 (GRCm39) T98I probably benign Het
Nek3 T C 8: 22,650,278 (GRCm39) E78G probably damaging Het
Nfatc3 T A 8: 106,825,768 (GRCm39) N606K probably damaging Het
Nup107 T G 10: 117,597,248 (GRCm39) D669A probably damaging Het
Or10ag52 A T 2: 87,043,758 (GRCm39) Q174L probably benign Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Or4c3 T C 2: 89,851,673 (GRCm39) T246A probably benign Het
Or8b55 A T 9: 38,726,871 (GRCm39) H24L probably benign Het
Pcnx1 T C 12: 82,030,258 (GRCm39) V1711A probably benign Het
Pik3c3 A G 18: 30,410,063 (GRCm39) D99G probably damaging Het
Pinx1 C A 14: 64,157,024 (GRCm39) T317K probably benign Het
Ppargc1b G T 18: 61,431,857 (GRCm39) probably null Het
Pradc1 T A 6: 85,424,203 (GRCm39) I119F possibly damaging Het
Psat1 G T 19: 15,892,243 (GRCm39) T242K probably damaging Het
Psma6 G A 12: 55,454,317 (GRCm39) C28Y probably damaging Het
Pyurf A T 6: 57,668,817 (GRCm39) C58* probably null Het
Rab3gap2 C A 1: 185,016,081 (GRCm39) A1331E probably benign Het
Ruvbl2 T C 7: 45,074,586 (GRCm39) K184R probably benign Het
Scn7a T G 2: 66,510,527 (GRCm39) M1292L probably benign Het
Scn7a A T 2: 66,531,231 (GRCm39) Y549N probably damaging Het
Selp A G 1: 163,959,854 (GRCm39) D370G possibly damaging Het
Slc22a15 G A 3: 101,767,769 (GRCm39) Q386* probably null Het
Slc22a29 A G 19: 8,195,126 (GRCm39) probably null Het
Slc26a7 A C 4: 14,548,491 (GRCm39) I266S possibly damaging Het
Smpd4 T C 16: 17,443,872 (GRCm39) S112P probably damaging Het
Smpd4 T A 16: 17,458,744 (GRCm39) L165Q probably damaging Het
Snx33 A G 9: 56,833,982 (GRCm39) I29T probably benign Het
Spen G A 4: 141,203,686 (GRCm39) P1647L unknown Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Swsap1 C T 9: 21,867,280 (GRCm39) R75* probably null Het
Tesl1 A G X: 23,772,990 (GRCm39) I164V probably benign Het
Tmem210 C T 2: 25,178,435 (GRCm39) T32I probably damaging Het
Tnn C T 1: 159,975,154 (GRCm39) R91H possibly damaging Het
Tnni1 G A 1: 135,736,420 (GRCm39) R94H probably damaging Het
Tnrc6c T A 11: 117,651,556 (GRCm39) V1693D probably benign Het
Trip4 G A 9: 65,782,259 (GRCm39) Q158* probably null Het
Ttc39b T C 4: 83,155,586 (GRCm39) E474G probably damaging Het
Usp50 C A 2: 126,617,782 (GRCm39) C221F probably damaging Het
Vmn1r171 T C 7: 23,331,781 (GRCm39) I2T probably benign Het
Wdr62 T A 7: 29,967,328 (GRCm39) I309F probably damaging Het
Xdh A T 17: 74,217,204 (GRCm39) V688E probably damaging Het
Zfyve26 A G 12: 79,285,718 (GRCm39) L2353P probably damaging Het
Zgpat C A 2: 181,020,633 (GRCm39) R269S probably damaging Het
Other mutations in Rnase4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Rnase4 APN 14 51,342,378 (GRCm39) missense probably damaging 1.00
R0601:Rnase4 UTSW 14 51,342,552 (GRCm39) missense probably benign
R0671:Rnase4 UTSW 14 51,342,507 (GRCm39) missense probably damaging 1.00
R0948:Rnase4 UTSW 14 51,342,362 (GRCm39) missense probably damaging 1.00
R1571:Rnase4 UTSW 14 51,342,497 (GRCm39) missense probably damaging 1.00
R1893:Rnase4 UTSW 14 51,342,395 (GRCm39) missense possibly damaging 0.92
R4051:Rnase4 UTSW 14 51,342,462 (GRCm39) missense probably benign
R4052:Rnase4 UTSW 14 51,342,462 (GRCm39) missense probably benign
R4207:Rnase4 UTSW 14 51,342,462 (GRCm39) missense probably benign
R4208:Rnase4 UTSW 14 51,342,462 (GRCm39) missense probably benign
R5074:Rnase4 UTSW 14 51,342,702 (GRCm39) missense possibly damaging 0.88
R5739:Rnase4 UTSW 14 51,342,306 (GRCm39) missense probably benign 0.01
R6742:Rnase4 UTSW 14 51,342,486 (GRCm39) missense probably benign 0.12
R7878:Rnase4 UTSW 14 51,342,333 (GRCm39) missense probably damaging 0.98
R9086:Rnase4 UTSW 14 51,342,429 (GRCm39) missense possibly damaging 0.86
R9091:Rnase4 UTSW 14 51,342,662 (GRCm39) missense probably benign 0.33
R9270:Rnase4 UTSW 14 51,342,662 (GRCm39) missense probably benign 0.33
R9526:Rnase4 UTSW 14 51,342,645 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23