Incidental Mutation 'R9600:Pop1'
ID 723696
Institutional Source Beutler Lab
Gene Symbol Pop1
Ensembl Gene ENSMUSG00000022325
Gene Name processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms 4932434G09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R9600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 34495304-34530648 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34512735 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 493 (I493T)
Ref Sequence ENSEMBL: ENSMUSP00000052654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052290] [ENSMUST00000079028]
AlphaFold Q8K205
Predicted Effect probably benign
Transcript: ENSMUST00000052290
AA Change: I493T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: I493T

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 benign
Transcript: ENSMUST00000079028
AA Change: I493T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: I493T

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,175 L296Q possibly damaging Het
4932438A13Rik A T 3: 37,041,416 K1103* probably null Het
5730455P16Rik A G 11: 80,370,371 V210A probably damaging Het
Abcc9 G A 6: 142,590,376 A1544V possibly damaging Het
Akap6 A G 12: 52,886,558 T278A probably benign Het
Arfgef1 T A 1: 10,163,752 I1106F probably benign Het
Armc7 T C 11: 115,476,212 L61S probably damaging Het
Atp1a3 G A 7: 25,000,602 T111M probably benign Het
BC017158 T A 7: 128,276,504 D253V possibly damaging Het
Cacna2d4 T A 6: 119,345,062 S962R probably benign Het
Camsap2 T C 1: 136,277,198 T526A Het
Casq2 A T 3: 102,145,306 D378V unknown Het
Chst8 C T 7: 34,675,221 D398N possibly damaging Het
Cmya5 C T 13: 93,090,096 G2828D probably damaging Het
Cntnap2 T A 6: 45,992,075 N250K probably damaging Het
Cpne5 T C 17: 29,161,546 N401D probably damaging Het
Cse1l A G 2: 166,915,199 N7S probably damaging Het
Cyp4f39 G A 17: 32,486,946 G337D probably damaging Het
Dera C T 6: 137,837,137 R308C probably benign Het
Drd5 T A 5: 38,320,831 I389N possibly damaging Het
F830016B08Rik A G 18: 60,300,165 T107A probably damaging Het
Fbxw22 C A 9: 109,383,918 L320F probably damaging Het
Fndc3b G T 3: 27,498,792 T352K probably damaging Het
Gm36864 T A 7: 44,236,851 I169K unknown Het
Gm6614 T G 6: 142,003,508 probably null Het
Hdac4 A T 1: 91,961,555 D749E probably damaging Het
Herc1 C T 9: 66,397,312 A805V possibly damaging Het
Hrh1 A G 6: 114,480,492 K245E probably benign Het
Khdc1a A G 1: 21,350,980 T130A probably benign Het
Lrp5 C G 19: 3,591,712 A1417P probably benign Het
Macf1 T C 4: 123,471,209 Q3253R possibly damaging Het
Mdn1 T A 4: 32,684,723 L811* probably null Het
Mettl8 T C 2: 70,982,039 D84G possibly damaging Het
Miga1 T G 3: 152,287,549 T412P probably benign Het
Mtor G T 4: 148,547,635 R2322L possibly damaging Het
Muc16 T C 9: 18,655,851 N1791D unknown Het
Myo9b C G 8: 71,290,431 S45R possibly damaging Het
Olfm4 T C 14: 80,006,307 F105S probably damaging Het
Olfr313 A T 11: 58,817,544 I179F possibly damaging Het
Osbpl1a T C 18: 12,882,220 I384V probably benign Het
Pcnx T C 12: 81,983,661 L1131P Het
Pex6 T A 17: 46,724,396 V827E probably damaging Het
Plek A C 11: 16,990,119 S197A probably benign Het
Pmpca T C 2: 26,392,586 Y269H probably benign Het
Rap1gap2 T C 11: 74,393,128 N615D probably benign Het
Rtp3 T C 9: 110,986,130 Y389C unknown Het
Sardh T C 2: 27,230,501 Q423R probably benign Het
Slc11a1 T C 1: 74,383,529 probably null Het
Slc5a4b T C 10: 76,060,405 D572G probably damaging Het
Slfn14 A G 11: 83,279,222 V532A probably benign Het
Stxbp1 T C 2: 32,811,108 Y264C possibly damaging Het
Syce1l T C 8: 113,655,118 I230T unknown Het
Taf5l T C 8: 124,003,434 Y172C Het
Tex43 T C 18: 56,592,378 W37R probably benign Het
Trpc4 A T 3: 54,194,827 K49* probably null Het
Ttc13 A G 8: 124,688,545 V285A probably benign Het
Ttc17 A T 2: 94,374,545 L344Q probably damaging Het
Unc79 A G 12: 103,169,713 H2469R probably benign Het
Xkr7 A G 2: 153,054,473 I416V probably benign Het
Zeb2 C A 2: 45,097,168 D35Y unknown Het
Zfp28 A G 7: 6,394,918 H784R probably benign Het
Zfp644 A C 5: 106,636,043 S848R probably benign Het
Zfp809 G A 9: 22,239,088 E294K possibly damaging Het
Zfp820 A G 17: 21,819,880 Y156H 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
IGL02680:Pop1 APN 15 34502473 missense probably damaging 0.99
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
R9711:Pop1 UTSW 15 34530081 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- GCTGTTAGACAAATGTGTGCAG -3'
(R):5'- GACTGAATTCCTTGTGCATCTGAC -3'

Sequencing Primer
(F):5'- TTCTGAAGGTATTAATGGGCAAAAG -3'
(R):5'- GTGCATCTGACAGCTCGACAAG -3'
Posted On 2022-09-12