Incidental Mutation 'IGL00492:Rpf1'
ID6737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpf1
Ensembl Gene ENSMUSG00000028187
Gene Nameribosome production factor 1 homolog
SynonymsBxdc5, 2210420E24Rik, 2310066N05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL00492
Quality Score
Status
Chromosome3
Chromosomal Location146505956-146521429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 146512247 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 171 (H171Y)
Ref Sequence ENSEMBL: ENSMUSP00000143279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029838] [ENSMUST00000199079]
Predicted Effect probably benign
Transcript: ENSMUST00000029838
AA Change: H171Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: H171Y

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: H171Y

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: H171Y

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
Predicted Effect probably benign
Transcript: ENSMUST00000199174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200583
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap29 G T 3: 122,003,312 E108* probably null Het
Braf A T 6: 39,660,999 probably null Het
Calr3 G A 8: 72,431,396 Q112* probably null Het
Dis3 A G 14: 99,082,674 I649T probably damaging Het
Dopey2 T C 16: 93,780,782 V65A probably benign Het
Dpp4 A G 2: 62,379,302 Y126H probably damaging Het
Dtwd2 A T 18: 49,723,709 Y170* probably null Het
Efcab7 A G 4: 99,831,463 T61A probably benign Het
Fbxl3 G T 14: 103,095,294 L83M probably damaging Het
Fbxo17 A C 7: 28,735,341 S184R probably damaging Het
Fcf1 T C 12: 84,982,332 probably null Het
Gm428 C T 4: 73,687,333 T327I probably damaging Het
Hcrtr2 T C 9: 76,246,441 Y223C probably damaging Het
Kcnn1 A G 8: 70,848,062 F432S probably benign Het
Kmt2a C T 9: 44,807,934 probably benign Het
Lce1j T C 3: 92,789,406 T22A unknown Het
Lrfn5 T A 12: 61,844,126 S734T probably benign Het
Lyst T A 13: 13,678,175 S2253R possibly damaging Het
Myrfl G A 10: 116,796,106 L645F possibly damaging Het
Nudt9 A G 5: 104,061,762 probably benign Het
Ostn T A 16: 27,321,382 M15K possibly damaging Het
Psg20 T C 7: 18,674,611 T395A possibly damaging Het
Shprh A G 10: 11,188,158 E1325G probably damaging Het
Slc22a8 G T 19: 8,594,135 V77L probably benign Het
Tbck A C 3: 132,722,740 K285N probably benign Het
Vmn1r86 C T 7: 13,102,541 C86Y possibly damaging Het
Zdhhc20 A G 14: 57,873,924 I73T probably damaging Het
Zfp512b T C 2: 181,587,069 D701G probably damaging Het
Zfp735 T A 11: 73,711,366 Y379N possibly damaging Het
Znfx1 G T 2: 167,036,923 H980Q probably damaging Het
Other mutations in Rpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Rpf1 APN 3 146507547 missense probably damaging 1.00
IGL01729:Rpf1 APN 3 146507149 missense probably damaging 1.00
IGL02122:Rpf1 APN 3 146521267 missense probably benign
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
Y5404:Rpf1 UTSW 3 146512836 missense probably damaging 1.00
Y5405:Rpf1 UTSW 3 146512836 missense probably damaging 1.00
Posted On2012-04-20