Incidental Mutation 'R1571:Rnase4'
ID 186226
Institutional Source Beutler Lab
Gene Symbol Rnase4
Ensembl Gene ENSMUSG00000021876
Gene Name ribonuclease, RNase A family 4
Synonyms C730049F20Rik
MMRRC Submission 039610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R1571 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51328534-51343608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51342497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 74 (F74V)
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 damaging
Transcript: ENSMUST00000022428
AA Change: F74V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876
AA Change: F74V

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 damaging
Transcript: ENSMUST00000169895
AA Change: F74V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876
AA Change: F74V

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A G 5: 114,961,372 (GRCm39) probably null Het
Abcd3 T C 3: 121,586,491 (GRCm39) I70V possibly damaging Het
Acad10 T C 5: 121,759,411 (GRCm39) Y1024C probably damaging Het
Atp2b3 T G X: 72,588,712 (GRCm39) V701G probably damaging Het
Cbfa2t2 T A 2: 154,342,347 (GRCm39) M21K probably damaging Het
Cdc25a C T 9: 109,710,614 (GRCm39) T106I possibly damaging Het
Cdhr5 T C 7: 140,852,083 (GRCm39) T190A probably damaging Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Clcn6 T C 4: 148,097,226 (GRCm39) T614A possibly damaging Het
Cntln A T 4: 84,865,823 (GRCm39) R160* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dock3 C A 9: 106,815,158 (GRCm39) M1236I possibly damaging Het
Eif4g3 T A 4: 137,847,719 (GRCm39) H213Q probably damaging Het
Eya1 T A 1: 14,279,141 (GRCm39) H372L probably damaging Het
Fam13b A G 18: 34,630,485 (GRCm39) V91A possibly damaging Het
Hat1 T A 2: 71,264,519 (GRCm39) I319K probably benign Het
Kcnf1 T C 12: 17,225,853 (GRCm39) N123D probably benign Het
Kcns3 C A 12: 11,141,551 (GRCm39) G383W probably damaging Het
Kprp A T 3: 92,732,689 (GRCm39) C120* probably null Het
Lama3 T A 18: 12,672,774 (GRCm39) C2456S probably damaging Het
Lrp1b A T 2: 41,366,658 (GRCm39) D539E probably damaging Het
Matn3 T C 12: 9,005,466 (GRCm39) L292S probably damaging Het
Mbd3l1 T A 9: 18,395,947 (GRCm39) I24N probably damaging Het
Med10 T C 13: 69,958,159 (GRCm39) L37P probably damaging Het
Mrc1 A T 2: 14,313,544 (GRCm39) H925L probably damaging Het
Myo15a T A 11: 60,409,290 (GRCm39) I3219N probably damaging Het
Nom1 C T 5: 29,647,633 (GRCm39) Q623* probably null Het
Nrm T A 17: 36,175,079 (GRCm39) W136R probably damaging Het
Or8h8 A C 2: 86,753,789 (GRCm39) V29G probably benign Het
Pde7b T C 10: 20,288,836 (GRCm39) N298S probably benign Het
Piezo2 C T 18: 63,277,990 (GRCm39) A305T possibly damaging Het
Pimreg T C 11: 71,936,042 (GRCm39) L175P possibly damaging Het
Pkhd1l1 A G 15: 44,390,237 (GRCm39) D1451G probably benign Het
Ptpro A G 6: 137,355,128 (GRCm39) S212G probably benign Het
Rhpn1 C T 15: 75,585,967 (GRCm39) R627C possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Selp T C 1: 163,954,176 (GRCm39) Y159H probably damaging Het
Senp6 A G 9: 80,000,853 (GRCm39) T21A probably damaging Het
Slco1a7 A T 6: 141,700,135 (GRCm39) C132* probably null Het
Slco3a1 T C 7: 74,154,128 (GRCm39) D148G possibly damaging Het
Smtn G A 11: 3,480,102 (GRCm39) P373L probably benign Het
Snx20 A T 8: 89,356,597 (GRCm39) L73Q probably damaging Het
Sobp A G 10: 43,033,942 (GRCm39) V128A possibly damaging Het
Tcerg1 A G 18: 42,657,357 (GRCm39) T280A unknown Het
Tgfbrap1 A G 1: 43,088,973 (GRCm39) V810A probably benign Het
Thbs1 C A 2: 117,949,678 (GRCm39) D589E probably damaging Het
Tjp2 A G 19: 24,078,239 (GRCm39) Y885H probably damaging Het
Tmem109 A G 19: 10,849,993 (GRCm39) S100P probably damaging Het
Trim36 T C 18: 46,305,562 (GRCm39) K462E probably benign Het
Vmn1r226 A T 17: 20,908,538 (GRCm39) I257F probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Wdcp T A 12: 4,901,924 (GRCm39) Y593* probably null Het
Wdr59 T C 8: 112,177,682 (GRCm39) S907G 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
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
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
(F):5'- ACTGACCACCCAGTCATGTTTGTTC -3'
(R):5'- AGGCAATGACAACTCGCCTAGTG -3'

Sequencing Primer
(F):5'- AGCTGTACGCCTGTCAATTAG -3'
(R):5'- AGTGCTGGTTCTTGCCC -3'
Posted On 2014-05-09