Incidental Mutation 'IGL03156:Rnh1'
ID411274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnh1
Ensembl Gene ENSMUSG00000038650
Gene Nameribonuclease/angiogenin inhibitor 1
SynonymsRNH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL03156
Quality Score
Status
Chromosome7
Chromosomal Location141160326-141172857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 141163183 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 268 (N268S)
Ref Sequence ENSEMBL: ENSMUSP00000147928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106033] [ENSMUST00000167493] [ENSMUST00000209378] [ENSMUST00000210314] [ENSMUST00000210979]
Predicted Effect possibly damaging
Transcript: ENSMUST00000106033
AA Change: N232S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650
AA Change: N232S

DomainStartEndE-ValueType
Blast:LRR 22 49 3e-7 BLAST
LRR 50 77 2.95e-3 SMART
LRR 79 106 1.95e-3 SMART
LRR_RI 107 134 1.36e-7 SMART
LRR 136 163 7.15e-2 SMART
LRR 164 191 2.65e-5 SMART
LRR 193 220 4.24e-1 SMART
LRR 221 248 4.94e-5 SMART
LRR 250 277 2.34e-6 SMART
LRR 278 305 1.15e-5 SMART
LRR 307 334 8e0 SMART
LRR 335 362 4.75e-7 SMART
LRR 364 391 1.12e-3 SMART
LRR 392 419 6.17e-6 SMART
low complexity region 437 449 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167493
AA Change: N232S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650
AA Change: N232S

DomainStartEndE-ValueType
Blast:LRR 22 49 3e-7 BLAST
LRR 50 77 2.95e-3 SMART
LRR 79 106 1.95e-3 SMART
LRR_RI 107 134 1.36e-7 SMART
LRR 136 163 7.15e-2 SMART
LRR 164 191 2.65e-5 SMART
LRR 193 220 4.24e-1 SMART
LRR 221 248 4.94e-5 SMART
LRR 250 277 2.34e-6 SMART
LRR 278 305 1.15e-5 SMART
LRR 307 334 8e0 SMART
LRR 335 362 4.75e-7 SMART
LRR 364 391 1.12e-3 SMART
LRR 392 419 6.17e-6 SMART
low complexity region 437 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209378
Predicted Effect probably damaging
Transcript: ENSMUST00000210314
AA Change: N268S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000210979
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik A T 19: 11,105,750 I102K possibly damaging Het
4930430A15Rik T C 2: 111,200,412 D12G possibly damaging Het
Abca16 T C 7: 120,423,851 I70T possibly damaging Het
Acot11 A G 4: 106,754,136 Y365H probably damaging Het
Bdp1 A G 13: 100,061,036 V947A probably benign Het
Ccdc159 G T 9: 21,929,475 V113L probably benign Het
Cep350 T C 1: 155,858,042 D3035G probably damaging Het
Clca1 T A 3: 145,013,911 I433F probably damaging Het
Cntn5 T C 9: 9,673,877 Y740C probably damaging Het
Dennd5a C A 7: 109,919,255 probably benign Het
Des G A 1: 75,362,996 E333K probably damaging Het
Dnah7a T C 1: 53,605,824 R1018G probably damaging Het
Eif2b2 G T 12: 85,219,721 A54S probably damaging Het
Gm7276 C T 18: 77,185,603 probably benign Het
Hsbp1l1 A G 18: 80,235,519 probably benign Het
Iars G A 13: 49,703,179 G303S possibly damaging Het
Il18r1 A G 1: 40,498,368 E431G possibly damaging Het
Lrrc14b A G 13: 74,363,904 V19A probably benign Het
Map1lc3a T A 2: 155,277,009 I31N probably damaging Het
Obscn T C 11: 59,054,896 Y4163C probably damaging Het
Olfr478 T A 7: 108,032,351 probably benign Het
Pcsk1 A G 13: 75,131,951 T632A probably benign Het
Ppp1r15a A G 7: 45,525,171 L71P possibly damaging Het
Ptgs2 T G 1: 150,105,477 F504V probably damaging Het
Rimbp2 T G 5: 128,771,757 R908S probably damaging Het
Sap30l T C 11: 57,806,168 probably null Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Serpina12 T C 12: 104,037,899 Y158C probably damaging Het
Tmem237 A T 1: 59,109,127 D148E probably damaging Het
Trmt13 T C 3: 116,585,802 D232G probably benign Het
Zan T A 5: 137,463,939 T993S unknown Het
Zfp236 G A 18: 82,680,702 L85F probably damaging Het
Zfp352 G A 4: 90,224,087 D155N possibly damaging Het
Zfp867 T C 11: 59,465,008 probably benign Het
Zmiz2 T C 11: 6,399,536 F399L probably damaging Het
Other mutations in Rnh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Rnh1 APN 7 141166731 missense possibly damaging 0.49
IGL01016:Rnh1 APN 7 141164496 splice site probably benign
R0063:Rnh1 UTSW 7 141164196 intron probably null
R0456:Rnh1 UTSW 7 141162548 missense possibly damaging 0.90
R1086:Rnh1 UTSW 7 141163369 missense probably benign
R1223:Rnh1 UTSW 7 141163207 missense probably damaging 1.00
R1741:Rnh1 UTSW 7 141164023 missense probably benign 0.00
R1771:Rnh1 UTSW 7 141164606 missense possibly damaging 0.55
R4508:Rnh1 UTSW 7 141164543 missense possibly damaging 0.90
R5348:Rnh1 UTSW 7 141163408 missense probably damaging 0.99
R5581:Rnh1 UTSW 7 141163381 missense probably benign 0.00
R6752:Rnh1 UTSW 7 141163441 missense probably benign 0.00
R6932:Rnh1 UTSW 7 141163183 missense probably damaging 1.00
R7536:Rnh1 UTSW 7 141160812 missense possibly damaging 0.92
Posted On2016-08-02