Incidental Mutation 'IGL02680:Pop1'
ID 303343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pop1
Ensembl Gene ENSMUSG00000022325
Gene Name processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms 4932434G09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL02680
Quality Score
Status
Chromosome 15
Chromosomal Location 34495304-34530648 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34502473 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 102 (I102K)
Ref Sequence ENSEMBL: ENSMUSP00000078037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052290] [ENSMUST00000079028]
AlphaFold Q8K205
Predicted Effect probably damaging
Transcript: ENSMUST00000052290
AA Change: I102K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: I102K

DomainStartEndE-ValueType
Pfam:POP1 107 190 6.2e-21 PFAM
Pfam:POP1 179 257 2.5e-23 PFAM
low complexity region 382 387 N/A INTRINSIC
Pfam:POPLD 647 738 1.4e-30 PFAM
low complexity region 931 940 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000079028
AA Change: I102K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: I102K

DomainStartEndE-ValueType
Pfam:POP1 107 258 1e-46 PFAM
low complexity region 382 387 N/A INTRINSIC
Pfam:POPLD 617 708 1.2e-34 PFAM
low complexity region 901 910 N/A INTRINSIC
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 the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,949 probably benign Het
Aldh1a3 C A 7: 66,406,147 V299F probably damaging Het
Ankar A G 1: 72,670,116 Y747H probably damaging Het
Armc9 T C 1: 86,252,278 I107T probably damaging Het
Atmin A T 8: 116,957,497 D632V probably damaging Het
Atp5h C A 11: 115,416,014 probably null Het
Cadps2 T C 6: 23,838,896 E81G probably damaging Het
Cep162 A G 9: 87,246,744 V67A possibly damaging Het
Cfap100 C T 6: 90,412,235 V335I probably benign Het
Dmtf1 A T 5: 9,130,381 D181E probably benign Het
Efcab14 T A 4: 115,740,418 I70N probably damaging Het
Frzb T C 2: 80,424,626 T189A possibly damaging Het
Fstl3 G A 10: 79,778,672 W69* probably null Het
Gjb3 C T 4: 127,326,022 C239Y probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Inpp5d A G 1: 87,701,483 T397A possibly damaging Het
Myh11 G T 16: 14,209,520 H1283Q probably benign Het
Naip6 A G 13: 100,283,748 V1338A probably benign Het
Obscn A G 11: 59,000,020 S7229P unknown Het
Olfr364-ps1 A T 2: 37,146,415 I68F probably damaging Het
Pfkp G A 13: 6,600,672 probably benign Het
Ppp1r21 A G 17: 88,583,862 M732V probably benign Het
Rsc1a1 A G 4: 141,685,097 V168A probably benign Het
Scd2 G A 19: 44,301,246 V227I probably benign Het
Scn10a T A 9: 119,666,059 Y372F probably damaging Het
Slc35c2 G T 2: 165,282,135 T94K probably damaging Het
Slc41a2 A G 10: 83,283,864 Y345H probably benign Het
Slc5a11 T C 7: 123,265,631 S387P probably damaging Het
Smg7 T A 1: 152,845,394 N727I probably benign Het
Steap2 A T 5: 5,673,474 F469I probably benign Het
Tex2 T A 11: 106,568,232 probably benign Het
Tmem79 A G 3: 88,332,963 L226P probably damaging Het
Tnfrsf14 G T 4: 154,924,470 C165* probably null Het
Trim21 A G 7: 102,559,663 V283A probably benign Het
Vmn2r16 A T 5: 109,340,082 M274L probably benign Het
Other mutations in Pop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Pop1 APN 15 34508729 missense probably benign 0.00
IGL02192:Pop1 APN 15 34529071 missense probably benign 0.08
IGL02958:Pop1 APN 15 34530363 missense probably damaging 0.99
H8562:Pop1 UTSW 15 34530212 missense probably benign 0.00
PIT4802001:Pop1 UTSW 15 34529083 missense probably benign 0.00
R0244:Pop1 UTSW 15 34515891 nonsense probably null
R0281:Pop1 UTSW 15 34529858 splice site probably null
R0453:Pop1 UTSW 15 34526206 missense possibly damaging 0.82
R0579:Pop1 UTSW 15 34509969 missense possibly damaging 0.68
R1054:Pop1 UTSW 15 34509809 missense probably benign 0.30
R1501:Pop1 UTSW 15 34510357 missense probably benign 0.01
R1614:Pop1 UTSW 15 34530210 missense possibly damaging 0.46
R1994:Pop1 UTSW 15 34530471 missense probably damaging 1.00
R2084:Pop1 UTSW 15 34508598 splice site probably benign
R4020:Pop1 UTSW 15 34508780 missense probably benign 0.01
R4550:Pop1 UTSW 15 34528936 missense probably damaging 1.00
R4579:Pop1 UTSW 15 34515824 intron probably benign
R5672:Pop1 UTSW 15 34530179 missense possibly damaging 0.63
R6139:Pop1 UTSW 15 34529058 missense probably benign 0.26
R6161:Pop1 UTSW 15 34526310 missense probably damaging 1.00
R6821:Pop1 UTSW 15 34508639 missense possibly damaging 0.86
R7053:Pop1 UTSW 15 34530275 missense probably benign 0.01
R7195:Pop1 UTSW 15 34510379 missense probably damaging 0.97
R7543:Pop1 UTSW 15 34530447 missense probably damaging 1.00
R7571:Pop1 UTSW 15 34528947 missense probably null 1.00
R7587:Pop1 UTSW 15 34502413 missense probably damaging 0.97
R8401:Pop1 UTSW 15 34508609 missense probably damaging 1.00
R8406:Pop1 UTSW 15 34529170 missense probably benign
R8707:Pop1 UTSW 15 34529203 missense probably benign 0.02
R9044:Pop1 UTSW 15 34530408 missense possibly damaging 0.94
R9066:Pop1 UTSW 15 34515914 missense possibly damaging 0.68
R9236:Pop1 UTSW 15 34499412 missense probably damaging 0.98
RF001:Pop1 UTSW 15 34502437 missense probably damaging 1.00
RF002:Pop1 UTSW 15 34502437 missense probably damaging 1.00
Z1088:Pop1 UTSW 15 34499319 missense probably damaging 1.00
Posted On 2015-04-16