Incidental Mutation 'IGL02122:Rpf1'
ID 280677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpf1
Ensembl Gene ENSMUSG00000028187
Gene Name ribosome production factor 1 homolog
Synonyms Bxdc5, 2210420E24Rik, 2310066N05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL02122
Quality Score
Status
Chromosome 3
Chromosomal Location 146505956-146521429 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146521267 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 44 (K44E)
Ref Sequence ENSEMBL: ENSMUSP00000143279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029838] [ENSMUST00000199079]
AlphaFold Q7TND5
Predicted Effect probably benign
Transcript: ENSMUST00000029838
AA Change: K44E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: K44E

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
low complexity region 71 92 N/A INTRINSIC
Brix 145 319 4.82e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196909
Predicted Effect probably benign
Transcript: ENSMUST00000199079
AA Change: K44E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: K44E

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
low complexity region 71 92 N/A INTRINSIC
Pfam:Brix 146 211 4.7e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,170,525 T756I possibly damaging Het
Abi3bp T C 16: 56,687,128 probably benign Het
Adcy5 G A 16: 35,283,612 probably benign Het
Adcy6 T A 15: 98,598,882 H504L possibly damaging Het
Ank2 A G 3: 126,937,874 probably benign Het
Atxn2 A G 5: 121,778,030 D34G probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil1 T C 13: 24,036,558 E657G possibly damaging Het
Cdc25c T C 18: 34,743,985 I212V probably benign Het
Chl1 A G 6: 103,675,137 D338G probably benign Het
Cog6 T C 3: 52,998,342 I361V probably benign Het
Dip2c T C 13: 9,506,659 S80P possibly damaging Het
Dmrtc2 A T 7: 24,872,583 R34S possibly damaging Het
Exph5 A G 9: 53,373,674 N685S probably benign Het
Flnc A T 6: 29,444,336 I684L possibly damaging Het
Foxk1 T A 5: 142,451,429 probably benign Het
Gprc6a T C 10: 51,626,723 N348S probably benign Het
Gspt1 T C 16: 11,229,216 K445R probably damaging Het
Hace1 T C 10: 45,618,604 V170A probably damaging Het
Hydin T C 8: 110,494,415 I1481T possibly damaging Het
Ighv4-1 A T 12: 113,948,525 L36Q possibly damaging Het
Ints1 G A 5: 139,765,150 Q833* probably null Het
Myo15 T C 11: 60,483,466 F96L probably benign Het
Myom1 G T 17: 71,092,137 R998L probably damaging Het
Nacc2 A G 2: 26,089,948 S159P probably benign Het
Olfr1128 A G 2: 87,545,103 V147A probably benign Het
Olfr178 T C 16: 58,889,771 T150A probably benign Het
Olfr873 T A 9: 20,300,584 L128Q probably damaging Het
Pbrm1 A G 14: 31,089,616 I1197V probably damaging Het
Pde4dip G A 3: 97,767,421 R60C probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pitpnm1 T C 19: 4,107,796 Y499H probably damaging Het
Plekhn1 C T 4: 156,223,856 probably null Het
Prmt8 A G 6: 127,690,717 Y332H probably benign Het
Prpf38a A G 4: 108,579,041 I25T possibly damaging Het
Rusc2 T C 4: 43,421,685 F702L possibly damaging Het
Ryr2 A T 13: 11,741,869 I1633K probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Tkt T C 14: 30,571,201 V510A possibly damaging Het
Tmem106a C A 11: 101,590,414 N249K probably damaging Het
Tmpo A T 10: 91,164,136 S157T possibly damaging Het
Tspan32 A T 7: 143,015,635 I144F probably damaging Het
Ufsp2 G A 8: 45,995,648 V429I probably benign Het
Unc13c T A 9: 73,734,397 probably benign Het
Usp47 A T 7: 112,106,908 K1259M probably damaging Het
Zdhhc18 A T 4: 133,613,635 probably benign Het
Zfp507 G T 7: 35,776,095 L898I probably damaging Het
Other mutations in Rpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Rpf1 APN 3 146512247 missense probably benign 0.10
IGL01371:Rpf1 APN 3 146507547 missense probably damaging 1.00
IGL01729:Rpf1 APN 3 146507149 missense probably damaging 1.00
R0196:Rpf1 UTSW 3 146508149 missense possibly damaging 0.86
R1664:Rpf1 UTSW 3 146512148 missense probably benign 0.01
R2019:Rpf1 UTSW 3 146521221 missense probably damaging 1.00
R3151:Rpf1 UTSW 3 146507635 missense probably damaging 1.00
R4989:Rpf1 UTSW 3 146506538 missense probably damaging 1.00
R5133:Rpf1 UTSW 3 146506538 missense probably damaging 1.00
R5134:Rpf1 UTSW 3 146506538 missense probably damaging 1.00
R5172:Rpf1 UTSW 3 146512295 missense possibly damaging 0.94
R5383:Rpf1 UTSW 3 146519391 missense possibly damaging 0.92
R5525:Rpf1 UTSW 3 146517804 splice site silent
R5927:Rpf1 UTSW 3 146519463 splice site probably null
R5947:Rpf1 UTSW 3 146506544 missense probably damaging 1.00
R7070:Rpf1 UTSW 3 146512184 missense probably damaging 1.00
R7311:Rpf1 UTSW 3 146507163 missense probably benign 0.42
R8345:Rpf1 UTSW 3 146507676 missense probably benign 0.17
R9317:Rpf1 UTSW 3 146512261 missense probably benign 0.14
R9406:Rpf1 UTSW 3 146508182 missense probably damaging 1.00
Y5404:Rpf1 UTSW 3 146512836 missense probably damaging 1.00
Y5405:Rpf1 UTSW 3 146512836 missense probably damaging 1.00
Posted On 2015-04-16