Incidental Mutation 'IGL03030:Pop4'
ID408399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pop4
Ensembl Gene ENSMUSG00000030423
Gene Nameprocessing of precursor 4, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms1110023P21Rik, Rpp29
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.862) question?
Stock #IGL03030
Quality Score
Status
Chromosome7
Chromosomal Location38261996-38271423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38263306 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 178 (I178N)
Ref Sequence ENSEMBL: ENSMUSP00000032585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032585] [ENSMUST00000205753] [ENSMUST00000205899] [ENSMUST00000206221]
Predicted Effect probably damaging
Transcript: ENSMUST00000032585
AA Change: I178N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032585
Gene: ENSMUSG00000030423
AA Change: I178N

DomainStartEndE-ValueType
low complexity region 63 75 N/A INTRINSIC
POP4 125 216 7.94e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205753
Predicted Effect probably benign
Transcript: ENSMUST00000205899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205959
Predicted Effect probably benign
Transcript: ENSMUST00000206221
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for an endonuclease-mediated deletion display complete prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,644 D246G probably damaging Het
4930452B06Rik A G 14: 8,511,113 S434P probably damaging Het
4931406B18Rik A G 7: 43,495,633 V367A possibly damaging Het
Abcb5 A T 12: 118,940,369 S200R possibly damaging Het
Adam29 T C 8: 55,873,065 D118G probably damaging Het
Adh4 A G 3: 138,429,145 D360G probably benign Het
Ankle2 A G 5: 110,251,610 Q611R possibly damaging Het
Ankra2 C T 13: 98,273,373 probably benign Het
Ap1g2 T A 14: 55,106,047 I28F probably damaging Het
Baz2a C T 10: 128,125,146 T1608I possibly damaging Het
C530008M17Rik A G 5: 76,857,616 D608G unknown Het
Cacnb4 T C 2: 52,474,882 D123G probably damaging Het
Cage1 G A 13: 38,028,147 T51M probably benign Het
Ccdc63 A G 5: 122,122,813 V216A probably benign Het
Ccnd2 A G 6: 127,148,878 V65A probably damaging Het
Chd3 T A 11: 69,354,404 T1163S possibly damaging Het
Cmbl A G 15: 31,589,677 probably benign Het
Cobl G T 11: 12,254,241 N813K possibly damaging Het
Cog5 G A 12: 31,790,922 V249M probably damaging Het
Cps1 A G 1: 67,142,921 N98S probably damaging Het
D630045J12Rik A T 6: 38,149,713 I1454N probably damaging Het
Elmo2 A G 2: 165,294,317 V603A possibly damaging Het
F12 A G 13: 55,421,519 probably benign Het
Ficd G A 5: 113,736,929 V20I probably benign Het
Gatad2b G T 3: 90,341,937 G94V probably benign Het
Gm4845 G A 1: 141,256,665 noncoding transcript Het
Hrnr G A 3: 93,320,601 V9I possibly damaging Het
Kifc3 A G 8: 95,102,412 S584P probably damaging Het
Klk1b24 C A 7: 44,191,366 Q73K probably benign Het
Lrp10 C A 14: 54,469,162 N518K possibly damaging Het
Lsr A G 7: 30,959,281 V247A possibly damaging Het
Mfsd6 A T 1: 52,709,703 M1K probably null Het
Mprip T A 11: 59,741,115 probably null Het
Myo3b G T 2: 70,426,816 probably benign Het
Olfr1019 T C 2: 85,841,072 T240A probably damaging Het
Olfr123 T A 17: 37,796,271 Y276N probably damaging Het
Olfr1463 C T 19: 13,235,054 S268L probably damaging Het
Olfr32 A T 2: 90,138,662 I159N possibly damaging Het
Olfr365 T C 2: 37,201,871 V210A probably benign Het
Oprd1 A G 4: 132,117,385 F104S possibly damaging Het
Palb2 A G 7: 122,113,256 V591A probably damaging Het
Pcdhb18 A T 18: 37,490,733 D372V probably damaging Het
Phc3 A G 3: 30,936,853 V405A probably damaging Het
Phf20l1 A T 15: 66,641,947 probably benign Het
Pik3ip1 A G 11: 3,333,259 K57E possibly damaging Het
Pkhd1l1 G A 15: 44,591,976 M4044I probably benign Het
Pkhd1l1 T C 15: 44,596,902 V4169A probably benign Het
Pklr A T 3: 89,142,656 I313F probably damaging Het
Plxna4 T A 6: 32,202,225 T952S probably benign Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rapgef2 C A 3: 79,074,307 probably null Het
Rbm19 A G 5: 120,131,246 D538G probably damaging Het
Rnf44 G A 13: 54,681,990 R312* probably null Het
Rock1 T C 18: 10,070,215 probably benign Het
Rrp1b A G 17: 32,056,901 E474G probably damaging Het
Ryr2 T A 13: 11,684,479 I2959F probably damaging Het
Sidt2 A G 9: 45,939,505 S801P probably damaging Het
Skint6 T C 4: 113,012,956 I602V probably benign Het
Slc6a19 C A 13: 73,700,471 V55L probably damaging Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Trappc11 C A 8: 47,513,929 V440F probably damaging Het
Vmn1r236 G A 17: 21,286,846 W75* probably null Het
Vmn2r52 A G 7: 10,158,872 F780S probably benign Het
Vmn2r82 G T 10: 79,381,315 A494S possibly damaging Het
Vwa3b A T 1: 37,044,968 K74M probably damaging Het
Wrn T A 8: 33,248,961 I1037F possibly damaging Het
Zfp13 T C 17: 23,580,845 T82A probably benign Het
Zfp82 T C 7: 30,057,465 E64G probably benign Het
Other mutations in Pop4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Pop4 APN 7 38264396 missense probably benign 0.01
R0172:Pop4 UTSW 7 38263255 missense probably damaging 1.00
R1167:Pop4 UTSW 7 38263269 missense probably benign 0.34
R4929:Pop4 UTSW 7 38266149 missense probably damaging 1.00
Posted On2016-08-02