Incidental Mutation 'IGL01729:Rpf1'
ID 105400
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
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL01729
Quality Score
Status
Chromosome 3
Chromosomal Location 146212099-146227184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 146212904 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TND5
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: 83,112,526 (GRCm39) F86L probably damaging Het
Acer3 A G 7: 97,866,072 (GRCm39) V217A probably benign Het
Adcy10 T C 1: 165,340,737 (GRCm39) probably null Het
Adcy8 C T 15: 64,678,511 (GRCm39) V481I probably damaging Het
Ano3 C T 2: 110,611,739 (GRCm39) probably null Het
Arhgap23 C T 11: 97,344,787 (GRCm39) T583I probably damaging Het
Atp2a1 A G 7: 126,057,106 (GRCm39) L173P probably damaging Het
Clgn T C 8: 84,124,279 (GRCm39) W74R probably damaging Het
Clstn3 T C 6: 124,426,753 (GRCm39) S523G probably benign Het
Dnah10 A C 5: 124,864,529 (GRCm39) K2245Q probably benign Het
Dsg1b G T 18: 20,538,295 (GRCm39) V634L possibly damaging Het
Dzip3 A T 16: 48,748,726 (GRCm39) V864E possibly damaging Het
Ear2 A T 14: 44,340,701 (GRCm39) R120* probably null Het
Fam171b T C 2: 83,685,881 (GRCm39) probably benign Het
Fam186b G A 15: 99,178,132 (GRCm39) S398L probably benign Het
Gabrp T C 11: 33,502,689 (GRCm39) K392E probably damaging Het
Gm10355 G A 3: 101,213,999 (GRCm39) noncoding transcript Het
Gm3424 T C 14: 17,337,188 (GRCm39) Y90C probably damaging Het
Gm8165 A G 14: 43,910,186 (GRCm39) V212A unknown Het
Grm7 G A 6: 111,223,145 (GRCm39) R395Q probably benign Het
Il1r1 T A 1: 40,333,986 (GRCm39) N185K probably damaging Het
Jam3 A G 9: 27,016,821 (GRCm39) F80L probably damaging Het
Map1s T C 8: 71,365,712 (GRCm39) Y206H probably damaging Het
Mroh7 A G 4: 106,561,402 (GRCm39) Y614H possibly damaging Het
Ntmt2 T A 1: 163,552,572 (GRCm39) D18V probably damaging Het
Pate2 T C 9: 35,581,888 (GRCm39) Y61H probably damaging Het
Prox1 T A 1: 189,893,372 (GRCm39) T358S probably benign Het
Prpf6 T A 2: 181,296,710 (GRCm39) D876E probably damaging Het
Rpusd2 T A 2: 118,865,837 (GRCm39) V178D probably damaging Het
Stx2 A G 5: 129,068,042 (GRCm39) F222L probably benign Het
Themis T A 10: 28,637,587 (GRCm39) Y230* probably null Het
Tmem132e T C 11: 82,325,942 (GRCm39) L314P possibly damaging Het
Tmtc3 T C 10: 100,283,017 (GRCm39) E846G probably benign Het
Trem1 T C 17: 48,551,603 (GRCm39) V88A possibly damaging Het
Trim21 G A 7: 102,213,100 (GRCm39) A66V probably damaging Het
Trip4 A C 9: 65,782,174 (GRCm39) V186G probably benign Het
Vps9d1 T C 8: 123,973,739 (GRCm39) E348G probably damaging Het
Xrn2 T C 2: 146,878,717 (GRCm39) probably null Het
Zfp36 A G 7: 28,077,888 (GRCm39) S7P probably damaging Het
Other mutations in Rpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Rpf1 APN 3 146,218,002 (GRCm39) missense probably benign 0.10
IGL01371:Rpf1 APN 3 146,213,302 (GRCm39) missense probably damaging 1.00
IGL02122:Rpf1 APN 3 146,227,022 (GRCm39) missense probably benign
R0196:Rpf1 UTSW 3 146,213,904 (GRCm39) missense possibly damaging 0.86
R1664:Rpf1 UTSW 3 146,217,903 (GRCm39) missense probably benign 0.01
R2019:Rpf1 UTSW 3 146,226,976 (GRCm39) missense probably damaging 1.00
R3151:Rpf1 UTSW 3 146,213,390 (GRCm39) missense probably damaging 1.00
R4989:Rpf1 UTSW 3 146,212,293 (GRCm39) missense probably damaging 1.00
R5133:Rpf1 UTSW 3 146,212,293 (GRCm39) missense probably damaging 1.00
R5134:Rpf1 UTSW 3 146,212,293 (GRCm39) missense probably damaging 1.00
R5172:Rpf1 UTSW 3 146,218,050 (GRCm39) missense possibly damaging 0.94
R5383:Rpf1 UTSW 3 146,225,146 (GRCm39) missense possibly damaging 0.92
R5525:Rpf1 UTSW 3 146,223,559 (GRCm39) splice site silent
R5927:Rpf1 UTSW 3 146,225,218 (GRCm39) splice site probably null
R5947:Rpf1 UTSW 3 146,212,299 (GRCm39) missense probably damaging 1.00
R7070:Rpf1 UTSW 3 146,217,939 (GRCm39) missense probably damaging 1.00
R7311:Rpf1 UTSW 3 146,212,918 (GRCm39) missense probably benign 0.42
R8345:Rpf1 UTSW 3 146,213,431 (GRCm39) missense probably benign 0.17
R9317:Rpf1 UTSW 3 146,218,016 (GRCm39) missense probably benign 0.14
R9406:Rpf1 UTSW 3 146,213,937 (GRCm39) missense probably damaging 1.00
R9746:Rpf1 UTSW 3 146,223,533 (GRCm39) missense probably damaging 1.00
Y5404:Rpf1 UTSW 3 146,218,591 (GRCm39) missense probably damaging 1.00
Y5405:Rpf1 UTSW 3 146,218,591 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21