Incidental Mutation 'IGL01016:Rnh1'
ID53675
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: 0.117) question?
Stock #IGL01016
Quality Score
Status
Chromosome7
Chromosomal Location141160326-141172857 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 141164496 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106033] [ENSMUST00000167493] [ENSMUST00000209378] [ENSMUST00000210314] [ENSMUST00000210979]
Predicted Effect probably benign
Transcript: ENSMUST00000106033
SMART Domains Protein: ENSMUSP00000101651
Gene: ENSMUSG00000038650

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: ENSMUST00000167493
SMART Domains Protein: ENSMUSP00000133061
Gene: ENSMUSG00000038650

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 benign
Transcript: ENSMUST00000210314
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh7 G A 1: 110,108,956 probably null Het
Dennd1c T C 17: 57,066,839 I575V probably damaging Het
Focad G A 4: 88,392,015 V1394I possibly damaging Het
Gldc G A 19: 30,133,493 S570F possibly damaging Het
Gm12695 T A 4: 96,757,947 Y286F probably benign Het
Grid1 C T 14: 34,822,639 Q56* probably null Het
Il7r A T 15: 9,510,208 V253E probably damaging Het
Iqgap3 T C 3: 88,107,560 L861P probably damaging Het
Kcnc3 C T 7: 44,595,386 R367W probably damaging Het
Lipt1 T C 1: 37,875,183 Y107H probably damaging Het
Mep1a T C 17: 43,479,084 E445G probably benign Het
Mpo A G 11: 87,797,610 probably null Het
Nme5 T C 18: 34,578,659 probably null Het
Olfr281 T A 15: 98,456,305 probably benign Het
Olfr666 A T 7: 104,893,036 N197K probably damaging Het
Olfr921 T A 9: 38,775,441 F62Y probably damaging Het
Papolg A T 11: 23,885,570 N83K possibly damaging Het
Picalm A T 7: 90,161,318 D111V probably damaging Het
Ppargc1a T A 5: 51,498,031 probably null Het
Rpgrip1 T C 14: 52,145,836 Y576H probably damaging Het
Sobp T A 10: 43,022,878 Y237F probably damaging Het
Spink5 T C 18: 44,007,644 Y637H probably damaging Het
St18 G T 1: 6,844,323 G797V probably damaging Het
Tbx20 T C 9: 24,750,321 D293G probably damaging Het
Tcl1b1 A T 12: 105,164,404 R49* probably null Het
Tnfsf13b A G 8: 10,031,612 Q258R probably damaging Het
Vmn1r223 A T 13: 23,250,067 Y277F probably damaging Het
Wdr62 T C 7: 30,254,251 T146A probably benign Het
Zfp236 G A 18: 82,668,690 A241V probably benign Het
Zfp318 T C 17: 46,400,077 S909P probably damaging Het
Other mutations in Rnh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Rnh1 APN 7 141166731 missense possibly damaging 0.49
IGL03156:Rnh1 APN 7 141163183 missense probably damaging 1.00
R0063:Rnh1 UTSW 7 141164196 splice site 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
R8152:Rnh1 UTSW 7 141160704 missense probably damaging 1.00
R8334:Rnh1 UTSW 7 141168631 missense probably benign 0.01
R8791:Rnh1 UTSW 7 141162433 missense probably benign 0.40
Posted On2013-06-28