Incidental Mutation 'IGL00597:Rpusd4'
ID6183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpusd4
Ensembl Gene ENSMUSG00000032044
Gene NameRNA pseudouridylate synthase domain containing 4
Synonyms2410001E19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.933) question?
Stock #IGL00597
Quality Score
Status
Chromosome9
Chromosomal Location35267865-35277731 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35268442 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 77 (V77E)
Ref Sequence ENSEMBL: ENSMUSP00000034543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034543] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000125087] [ENSMUST00000217306]
Predicted Effect probably benign
Transcript: ENSMUST00000034543
AA Change: V77E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: V77E

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 105 277 5.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059057
SMART Domains Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 301 1.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063782
SMART Domains Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
Pfam:SIR2_2 75 225 7.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121564
SMART Domains Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 301 2.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125087
SMART Domains Protein: ENSMUSP00000119747
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 268 3.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147256
Predicted Effect probably benign
Transcript: ENSMUST00000217306
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdkrb1 A T 12: 105,604,951 I259F probably damaging Het
Chac1 A G 2: 119,353,559 Y214C probably benign Het
Ctnnd2 A C 15: 30,647,141 T328P possibly damaging Het
Gart A G 16: 91,638,789 S179P possibly damaging Het
Gbp9 A G 5: 105,094,498 V125A probably damaging Het
Gpc6 T A 14: 117,951,234 S427T probably benign Het
Ifna7 A T 4: 88,816,438 I71F probably benign Het
Kcnip1 A T 11: 33,643,289 probably benign Het
Kcnip1 A T 11: 33,643,294 probably null Het
Krt86 A G 15: 101,476,226 K222R probably benign Het
Nacad G A 11: 6,600,921 P757S probably benign Het
Obox7 C A 7: 14,664,032 probably benign Het
Pam T A 1: 97,834,444 T805S probably benign Het
Pgam2 G A 11: 5,803,442 R83C probably damaging Het
Prtg T A 9: 72,809,644 I89N probably damaging Het
Sirpb1a T C 3: 15,416,917 Y50C probably damaging Het
Whamm T C 7: 81,578,266 V87A probably damaging Het
Other mutations in Rpusd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Rpusd4 APN 9 35268418 missense possibly damaging 0.66
IGL01657:Rpusd4 APN 9 35273461 unclassified probably benign
IGL01780:Rpusd4 APN 9 35268424 missense probably damaging 0.98
IGL03290:Rpusd4 APN 9 35267977 missense probably benign
R0607:Rpusd4 UTSW 9 35267993 missense possibly damaging 0.93
R1081:Rpusd4 UTSW 9 35275088 missense probably benign 0.04
R1441:Rpusd4 UTSW 9 35272769 missense probably damaging 0.97
R2029:Rpusd4 UTSW 9 35268014 missense probably benign 0.00
R3929:Rpusd4 UTSW 9 35272580 missense probably benign 0.29
R4107:Rpusd4 UTSW 9 35275128 missense probably damaging 1.00
R4840:Rpusd4 UTSW 9 35268535 missense probably damaging 1.00
R5429:Rpusd4 UTSW 9 35272602 missense probably benign 0.01
R5801:Rpusd4 UTSW 9 35270073 missense possibly damaging 0.83
R5988:Rpusd4 UTSW 9 35272520 splice site probably null
R6318:Rpusd4 UTSW 9 35268038 missense probably damaging 1.00
R7819:Rpusd4 UTSW 9 35267932 missense probably benign
R7995:Rpusd4 UTSW 9 35272721 missense probably damaging 0.99
R8227:Rpusd4 UTSW 9 35268535 missense probably benign 0.22
R8246:Rpusd4 UTSW 9 35272580 missense probably benign 0.29
V1662:Rpusd4 UTSW 9 35272761 missense probably benign 0.06
Posted On2012-04-20