Incidental Mutation 'IGL01729:Rpf1'
ID105400
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: 0.929) question?
Stock #IGL01729
Quality Score
Status
Chromosome3
Chromosomal Location146505956-146521429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 146507149 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 311 (R311C)
Ref Sequence ENSEMBL: ENSMUSP00000029838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029838] [ENSMUST00000090031] [ENSMUST00000118280] [ENSMUST00000119130] [ENSMUST00000199079]
Predicted Effect probably damaging
Transcript: ENSMUST00000029838
AA Change: R311C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: R311C

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 probably benign
Transcript: ENSMUST00000090031
SMART Domains Protein: ENSMUSP00000087485
Gene: ENSMUSG00000068523

DomainStartEndE-ValueType
G_gamma 4 68 1.06e-20 SMART
GGL 7 68 2.79e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118280
SMART Domains Protein: ENSMUSP00000114014
Gene: ENSMUSG00000068523

DomainStartEndE-ValueType
G_gamma 4 68 1.06e-20 SMART
GGL 7 68 2.79e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119130
SMART Domains Protein: ENSMUSP00000113018
Gene: ENSMUSG00000068523

DomainStartEndE-ValueType
G_gamma 1 67 9.67e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196909
Predicted Effect probably benign
Transcript: ENSMUST00000199079
SMART Domains Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187

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 unknown
Transcript: ENSMUST00000199174
AA Change: R105C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200583
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,228,325 F86L probably damaging Het
Acer3 A G 7: 98,216,865 V217A probably benign Het
Adcy10 T C 1: 165,513,168 probably null Het
Adcy8 C T 15: 64,806,662 V481I probably damaging Het
Ano3 C T 2: 110,781,394 probably null Het
Arhgap23 C T 11: 97,453,961 T583I probably damaging Het
Atp2a1 A G 7: 126,457,934 L173P probably damaging Het
Clgn T C 8: 83,397,650 W74R probably damaging Het
Clstn3 T C 6: 124,449,794 S523G probably benign Het
Dnah10 A C 5: 124,787,465 K2245Q probably benign Het
Dsg1b G T 18: 20,405,238 V634L possibly damaging Het
Dzip3 A T 16: 48,928,363 V864E possibly damaging Het
Ear2 A T 14: 44,103,244 R120* probably null Het
Fam171b T C 2: 83,855,537 probably benign Het
Fam186b G A 15: 99,280,251 S398L probably benign Het
Gabrp T C 11: 33,552,689 K392E probably damaging Het
Gm10355 G A 3: 101,306,683 noncoding transcript Het
Gm3424 T C 14: 5,829,323 Y90C probably damaging Het
Gm8165 A G 14: 43,672,729 V212A unknown Het
Grm7 G A 6: 111,246,184 R395Q probably benign Het
Il1r1 T A 1: 40,294,826 N185K probably damaging Het
Jam3 A G 9: 27,105,525 F80L probably damaging Het
Map1s T C 8: 70,913,068 Y206H probably damaging Het
Mettl11b T A 1: 163,725,003 D18V probably damaging Het
Mroh7 A G 4: 106,704,205 Y614H possibly damaging Het
Pate2 T C 9: 35,670,592 Y61H probably damaging Het
Prox1 T A 1: 190,161,175 T358S probably benign Het
Prpf6 T A 2: 181,654,917 D876E probably damaging Het
Rpusd2 T A 2: 119,035,356 V178D probably damaging Het
Stx2 A G 5: 128,990,978 F222L probably benign Het
Themis T A 10: 28,761,591 Y230* probably null Het
Tmem132e T C 11: 82,435,116 L314P possibly damaging Het
Tmtc3 T C 10: 100,447,155 E846G probably benign Het
Trem1 T C 17: 48,244,575 V88A possibly damaging Het
Trim21 G A 7: 102,563,893 A66V probably damaging Het
Trip4 A C 9: 65,874,892 V186G probably benign Het
Vps9d1 T C 8: 123,247,000 E348G probably damaging Het
Xrn2 T C 2: 147,036,797 probably null Het
Zfp36 A G 7: 28,378,463 S7P 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
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 On2014-01-21