Incidental Mutation 'IGL01550:Rpp40'
ID90590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpp40
Ensembl Gene ENSMUSG00000021418
Gene Nameribonuclease P 40 subunit
SynonymsD8Bwg1265e, Rnasep1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.910) question?
Stock #IGL01550
Quality Score
Status
Chromosome13
Chromosomal Location35893472-35906359 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 35906200 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171686] [ENSMUST00000174230]
Predicted Effect probably null
Transcript: ENSMUST00000171686
SMART Domains Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418

DomainStartEndE-ValueType
Pfam:Ribonuc_P_40 75 346 1.9e-97 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174230
SMART Domains Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418

DomainStartEndE-ValueType
Pfam:Ribonuc_P_40 85 324 1.7e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225277
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mup4 A T 4: 59,960,120 I48K probably damaging Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr243 T G 7: 103,716,997 H134Q probably damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tbc1d10c T C 19: 4,184,824 T413A probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Wbp4 T C 14: 79,466,334 T258A probably benign Het
Zfp758 T C 17: 22,375,040 L137S probably damaging Het
Other mutations in Rpp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Rpp40 APN 13 35902034 missense probably damaging 1.00
IGL03028:Rpp40 APN 13 35904511 missense probably damaging 0.99
R0006:Rpp40 UTSW 13 35896735 missense probably damaging 1.00
R0098:Rpp40 UTSW 13 35898987 missense probably benign 0.06
R0098:Rpp40 UTSW 13 35898987 missense probably benign 0.06
R0144:Rpp40 UTSW 13 35901369 missense probably benign 0.00
R0799:Rpp40 UTSW 13 35902051 missense probably benign
R1852:Rpp40 UTSW 13 35896914 missense probably benign 0.06
R2083:Rpp40 UTSW 13 35898992 missense probably benign 0.01
R2129:Rpp40 UTSW 13 35898621 nonsense probably null
R4042:Rpp40 UTSW 13 35898566 missense probably benign 0.00
R4044:Rpp40 UTSW 13 35898566 missense probably benign 0.00
R4118:Rpp40 UTSW 13 35896804 missense probably damaging 1.00
R5068:Rpp40 UTSW 13 35898698 missense probably benign 0.00
R5181:Rpp40 UTSW 13 35896712 unclassified probably null
R7023:Rpp40 UTSW 13 35898906 missense possibly damaging 0.66
Posted On2013-12-09