Incidental Mutation 'IGL02082:Rnase10'
ID283400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnase10
Ensembl Gene ENSMUSG00000021872
Gene Nameribonuclease, RNase A family, 10 (non-active)
Synonyms4930474F22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02082
Quality Score
Status
Chromosome14
Chromosomal Location51007751-51010758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51009399 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 41 (E41V)
Ref Sequence ENSEMBL: ENSMUSP00000131065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022424] [ENSMUST00000164632]
Predicted Effect probably damaging
Transcript: ENSMUST00000022424
AA Change: E78V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022424
Gene: ENSMUSG00000021872
AA Change: E78V

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
low complexity region 87 98 N/A INTRINSIC
Pfam:RnaseA 132 244 2.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164632
AA Change: E41V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131065
Gene: ENSMUSG00000021872
AA Change: E41V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
Pfam:RnaseA 91 208 1.4e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous disruption of this gene leads to decreased bone mineral density, alterations in B cell, T cell and NK cell number, and abnormal circulating glucose, creatinine, chloride and serum albumin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,970,198 T2A probably benign Het
Atp9b A C 18: 80,891,930 probably benign Het
Brinp3 T C 1: 146,751,862 C278R probably damaging Het
Cfap54 T C 10: 93,081,458 S47G unknown Het
Clec16a T C 16: 10,614,568 L484P probably damaging Het
Cnksr1 C A 4: 134,236,052 G71C probably damaging Het
Dnah12 A T 14: 26,707,162 N246I possibly damaging Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Focad C T 4: 88,230,578 Q511* probably null Het
Gpr63 A G 4: 25,008,564 probably benign Het
Iah1 C A 12: 21,317,404 S37* probably null Het
Inpp4a T A 1: 37,366,627 probably benign Het
Mcm2 A T 6: 88,888,236 Y486* probably null Het
Mtmr10 A G 7: 64,333,490 probably benign Het
Nbea A G 3: 55,968,167 L1694S possibly damaging Het
Pafah1b1 A G 11: 74,699,333 S4P probably benign Het
Slc17a6 G T 7: 51,669,029 R473L probably benign Het
Tbc1d9b A G 11: 50,163,882 D951G probably benign Het
Tk1 C A 11: 117,825,727 probably null Het
Trim46 C A 3: 89,239,000 A395S probably benign Het
Vmn1r113 C T 7: 20,787,747 H155Y probably benign Het
Vmn1r222 A G 13: 23,232,329 M238T probably damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Other mutations in Rnase10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Rnase10 APN 14 51009781 missense possibly damaging 0.91
IGL01534:Rnase10 APN 14 51007979 missense probably benign 0.00
IGL02661:Rnase10 APN 14 51009816 missense probably damaging 1.00
R1254:Rnase10 UTSW 14 51009626 missense probably damaging 0.99
R1989:Rnase10 UTSW 14 51009638 missense probably benign 0.03
R3878:Rnase10 UTSW 14 51009432 missense probably damaging 0.97
R5405:Rnase10 UTSW 14 51009860 missense probably damaging 1.00
R5942:Rnase10 UTSW 14 51009278 missense probably benign 0.08
R6107:Rnase10 UTSW 14 51009294 missense possibly damaging 0.89
R6994:Rnase10 UTSW 14 51009681 missense probably damaging 1.00
R7138:Rnase10 UTSW 14 51009710 missense probably damaging 1.00
R7186:Rnase10 UTSW 14 51009785 missense probably damaging 1.00
R7848:Rnase10 UTSW 14 51009513 missense possibly damaging 0.75
Posted On2015-04-16