Incidental Mutation 'IGL01473:Pop4'
ID 88344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pop4
Ensembl Gene ENSMUSG00000030423
Gene Name processing of precursor 4, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms Rpp29, 1110023P21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01473
Quality Score
Chromosome 7
Chromosomal Location 37962239-37970803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37963820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 154 (V154A)
Ref Sequence ENSEMBL: ENSMUSP00000032585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032585] [ENSMUST00000205753] [ENSMUST00000205899] [ENSMUST00000206221]
AlphaFold Q9CR08
Predicted Effect probably benign
Transcript: ENSMUST00000032585
AA Change: V154A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000032585
Gene: ENSMUSG00000030423
AA Change: V154A

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 noncoding transcript
Transcript: ENSMUST00000206045
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,135,542 (GRCm39) Y350C probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Clcn1 C A 6: 42,268,637 (GRCm39) A181D probably damaging Het
Cylc1 G T X: 110,166,449 (GRCm39) K243N unknown Het
Dsp A G 13: 38,351,547 (GRCm39) Y122C probably damaging Het
Exoc5 A G 14: 49,251,751 (GRCm39) V665A possibly damaging Het
Fcho1 G A 8: 72,164,782 (GRCm39) P500S probably benign Het
Flg2 A G 3: 93,110,327 (GRCm39) E785G unknown Het
Fpr1 A G 17: 18,097,954 (GRCm39) S12P possibly damaging Het
Hydin G T 8: 111,081,585 (GRCm39) G327V probably damaging Het
Hydin A T 8: 111,038,792 (GRCm39) M177L probably benign Het
Itga10 G A 3: 96,554,957 (GRCm39) G97E probably damaging Het
Khdc1c T A 1: 21,439,130 (GRCm39) Y39N possibly damaging Het
Lrp1b T G 2: 40,501,498 (GRCm39) T202P probably damaging Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mdc1 C A 17: 36,158,912 (GRCm39) L431I probably benign Het
Mmp17 A G 5: 129,683,472 (GRCm39) D536G probably benign Het
Myh8 G A 11: 67,192,651 (GRCm39) probably null Het
Odad3 C A 9: 21,906,675 (GRCm39) probably null Het
Ppp1r13l C T 7: 19,109,193 (GRCm39) R608C probably damaging Het
Prss36 T C 7: 127,543,873 (GRCm39) H166R probably damaging Het
Rab11fip3 C T 17: 26,287,709 (GRCm39) R148Q possibly damaging Het
Rbm39 T A 2: 156,014,899 (GRCm39) R49* probably null Het
S100a11 T C 3: 93,433,413 (GRCm39) C86R probably damaging Het
Skint7 T C 4: 111,839,402 (GRCm39) I232T probably damaging Het
Smchd1 G A 17: 71,696,745 (GRCm39) T1210I probably benign Het
Speg C T 1: 75,404,929 (GRCm39) T2907I possibly damaging Het
Spz1 A T 13: 92,711,764 (GRCm39) C237* probably null Het
Sun3 G T 11: 8,979,394 (GRCm39) D42E probably benign Het
Tgds C T 14: 118,365,626 (GRCm39) probably benign Het
Tnxb G A 17: 34,904,675 (GRCm39) D1270N probably damaging Het
Vmn2r78 A C 7: 86,569,520 (GRCm39) T138P possibly damaging Het
Wdfy1 T C 1: 79,685,182 (GRCm39) I351V probably benign Het
Other mutations in Pop4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03030:Pop4 APN 7 37,962,730 (GRCm39) missense probably damaging 1.00
R0172:Pop4 UTSW 7 37,962,679 (GRCm39) missense probably damaging 1.00
R1167:Pop4 UTSW 7 37,962,693 (GRCm39) missense probably benign 0.34
R4929:Pop4 UTSW 7 37,965,573 (GRCm39) missense probably damaging 1.00
R8463:Pop4 UTSW 7 37,962,599 (GRCm39) makesense probably null
R8516:Pop4 UTSW 7 37,966,826 (GRCm39) missense probably benign 0.00
R8863:Pop4 UTSW 7 37,962,649 (GRCm39) missense possibly damaging 0.95
Posted On 2013-11-18