Incidental Mutation 'IGL02714:Rpap3'
ID304684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpap3
Ensembl Gene ENSMUSG00000022466
Gene NameRNA polymerase II associated protein 3
Synonyms2310042P20Rik, D15Ertd682e
Accession Numbers

Genbank: NM_028003; MGI: 1277218

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02714
Quality Score
Status
Chromosome15
Chromosomal Location97675097-97705825 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97696577 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 157 (Y157H)
Ref Sequence ENSEMBL: ENSMUSP00000023104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023104]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023104
AA Change: Y157H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: Y157H

DomainStartEndE-ValueType
coiled coil region 9 45 N/A INTRINSIC
low complexity region 63 78 N/A INTRINSIC
low complexity region 114 125 N/A INTRINSIC
TPR 134 167 1.12e-7 SMART
TPR 168 201 2.07e1 SMART
TPR 202 235 2.36e-6 SMART
low complexity region 252 273 N/A INTRINSIC
TPR 284 317 6.58e-5 SMART
TPR 318 351 4.45e-2 SMART
TPR 352 385 3.87e-2 SMART
Pfam:RPAP3_C 540 631 3.8e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Allele List at MGI

All alleles(10) : Targeted, other(1) Gene trapped(9)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam T A 7: 19,758,807 probably benign Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cd86 T C 16: 36,620,928 D59G possibly damaging Het
Ckmt2 A G 13: 91,858,308 M306T possibly damaging Het
Dsc1 T C 18: 20,087,485 E744G probably damaging Het
Gpr139 T A 7: 119,145,119 D81V possibly damaging Het
Lsg1 T C 16: 30,585,550 probably null Het
Ly9 A G 1: 171,605,118 V109A possibly damaging Het
Mcm3ap T A 10: 76,511,033 S1806T probably benign Het
Met T A 6: 17,491,852 Y204* probably null Het
Olfr881 T A 9: 37,993,086 I198N possibly damaging Het
Ppp1r13l T C 7: 19,377,643 S798P possibly damaging Het
Ppp2r5b C T 19: 6,234,707 R42H probably damaging Het
Prg2 T A 2: 84,983,505 I220N probably damaging Het
Prph A G 15: 99,056,866 D271G probably damaging Het
Rassf9 T A 10: 102,512,563 L9Q possibly damaging Het
Tacstd2 A T 6: 67,535,069 I213N probably damaging Het
Tlr12 A G 4: 128,617,713 L248P probably damaging Het
Trip11 A T 12: 101,884,001 I1268N probably damaging Het
Zp1 C T 19: 10,918,612 G220D probably damaging Het
Other mutations in Rpap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01835:Rpap3 APN 15 97703239 missense possibly damaging 0.85
IGL03409:Rpap3 APN 15 97681739 missense possibly damaging 0.46
R0095:Rpap3 UTSW 15 97680536 splice site probably benign
R0847:Rpap3 UTSW 15 97703201 critical splice donor site probably null
R1496:Rpap3 UTSW 15 97686483 missense possibly damaging 0.86
R1562:Rpap3 UTSW 15 97694217 missense possibly damaging 0.86
R1603:Rpap3 UTSW 15 97701121 missense possibly damaging 0.53
R1801:Rpap3 UTSW 15 97694209 missense possibly damaging 0.73
R2163:Rpap3 UTSW 15 97680348 missense possibly damaging 0.71
R4969:Rpap3 UTSW 15 97686526 missense probably benign
R5226:Rpap3 UTSW 15 97703223 missense possibly damaging 0.53
R6610:Rpap3 UTSW 15 97688168 missense probably benign 0.24
R6613:Rpap3 UTSW 15 97681841 critical splice acceptor site probably null
R7040:Rpap3 UTSW 15 97679112 missense possibly damaging 0.51
R7429:Rpap3 UTSW 15 97688150 missense possibly damaging 0.96
R7430:Rpap3 UTSW 15 97688150 missense possibly damaging 0.96
YA93:Rpap3 UTSW 15 97693233 missense possibly damaging 0.86
Posted On2015-04-16