Incidental Mutation 'R4207:Rnase4'
ID 318988
Institutional Source Beutler Lab
Gene Symbol Rnase4
Ensembl Gene ENSMUSG00000021876
Gene Name ribonuclease, RNase A family 4
Synonyms C730049F20Rik
MMRRC Submission 041036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R4207 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51328534-51343608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51342462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 62 (K62R)
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 benign
Transcript: ENSMUST00000022428
AA Change: K62R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876
AA Change: K62R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
RNAse_Pc 26 142 6.52e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169895
AA Change: K62R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876
AA Change: K62R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
RNAse_Pc 26 142 6.52e-65 SMART
Meta Mutation Damage Score 0.0687 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Acap2 T A 16: 30,938,245 (GRCm39) N293I probably damaging Het
Adgrg4 G A X: 55,964,109 (GRCm39) V1893I possibly damaging Het
Aff1 T C 5: 103,966,854 (GRCm39) probably null Het
Ap1b1 A G 11: 4,981,637 (GRCm39) D515G probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Cand1 T C 10: 119,047,750 (GRCm39) D580G probably damaging Het
Casp4 A G 9: 5,328,451 (GRCm39) D311G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctnnd2 G T 15: 30,972,973 (GRCm39) V1033F probably damaging Het
Dhx29 G T 13: 113,064,483 (GRCm39) A53S probably benign Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Efl1 T C 7: 82,400,024 (GRCm39) V592A probably damaging Het
Elovl7 A T 13: 108,419,040 (GRCm39) Q224L possibly damaging Het
Fcgr3 T A 1: 170,881,644 (GRCm39) K160N probably benign Het
Flg A G 3: 93,187,169 (GRCm39) Y207C probably benign Het
Fmn2 A G 1: 174,409,521 (GRCm39) T585A unknown Het
Gm7135 T C 1: 97,397,620 (GRCm39) noncoding transcript Het
Gm8104 G T 14: 42,959,091 (GRCm39) D94Y probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kbtbd4 T C 2: 90,740,099 (GRCm39) F495L probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Mthfsd A G 8: 121,832,365 (GRCm39) V133A probably damaging Het
Nav2 T A 7: 49,246,979 (GRCm39) I2168N probably damaging Het
Nav2 T A 7: 49,222,046 (GRCm39) probably null Het
Nlrp10 T A 7: 108,523,548 (GRCm39) D644V possibly damaging Het
Oplah C T 15: 76,186,910 (GRCm39) R635H probably damaging Het
Or10n1 A G 9: 39,525,253 (GRCm39) Y130C possibly damaging Het
Or2c1 T C 16: 3,657,434 (GRCm39) L199P probably damaging Het
Or5b117 T C 19: 13,431,835 (GRCm39) I15M probably benign Het
Peli1 A G 11: 21,097,115 (GRCm39) probably null Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Pld5 T G 1: 175,821,441 (GRCm39) T242P probably damaging Het
Rbm5 A G 9: 107,627,682 (GRCm39) S420P probably benign Het
Rhag A T 17: 41,142,544 (GRCm39) I250F probably damaging Het
Scaf4 C T 16: 90,057,103 (GRCm39) V83I unknown Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Slc5a8 G T 10: 88,747,275 (GRCm39) L409F probably damaging Het
Spns3 A T 11: 72,429,187 (GRCm39) V199E probably damaging Het
Sspo A G 6: 48,455,227 (GRCm39) T3030A probably benign Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Stk39 G T 2: 68,051,264 (GRCm39) T527K probably benign Het
Sult2a1 T A 7: 13,535,472 (GRCm39) T194S probably benign Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Umodl1 G A 17: 31,178,341 (GRCm39) V106I probably damaging Het
Vmn2r85 A C 10: 130,254,574 (GRCm39) C703W probably damaging Het
Vmn2r92 G A 17: 18,404,523 (GRCm39) V556M possibly damaging Het
Zfp292 T C 4: 34,806,079 (GRCm39) I2322V probably benign Het
Zfp644 T C 5: 106,766,142 (GRCm39) E93G probably damaging Het
Zfp81 C T 17: 33,553,890 (GRCm39) C308Y 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
R1758:Rnase4 UTSW 14 51,342,722 (GRCm39) makesense probably null
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
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
(F):5'- GGTAATGATGGATCTACAGAGGACTC -3'
(R):5'- AACTCGCCTAGTGCTGGTTC -3'

Sequencing Primer
(F):5'- GACTCAGTCCTTGCTTCTGC -3'
(R):5'- CTGTATCTACAGTTGGGGGCC -3'
Posted On 2015-06-10