Incidental Mutation 'YA93:Rpap3'
ID |
86 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpap3
|
Ensembl Gene |
ENSMUSG00000022466 |
Gene Name |
RNA polymerase II associated protein 3 |
Synonyms |
D15Ertd682e, 2310042P20Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
YA93
of strain
inept
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97572978-97603706 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97591114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 241
(E241V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023104]
|
AlphaFold |
Q9D706 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023104
AA Change: E241V
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023104 Gene: ENSMUSG00000022466 AA Change: E241V
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.2403 |
Coding Region Coverage |
|
Validation Efficiency |
88% (101/115) |
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
C |
T |
1: 34,771,298 (GRCm39) |
R1202W |
probably benign |
Het |
B4galnt4 |
T |
A |
7: 140,647,324 (GRCm39) |
I358K |
possibly damaging |
Homo |
Ccdc168 |
A |
G |
1: 44,104,245 (GRCm39) |
|
probably benign |
Het |
Chodl |
A |
G |
16: 78,738,170 (GRCm39) |
H46R |
probably benign |
Homo |
Cubn |
C |
A |
2: 13,388,803 (GRCm39) |
R1468L |
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,205,201 (GRCm39) |
|
probably benign |
Het |
Dntt |
A |
C |
19: 41,041,626 (GRCm39) |
M437L |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,821,594 (GRCm39) |
P157S |
probably damaging |
Het |
Lct |
C |
T |
1: 128,229,057 (GRCm39) |
G812D |
probably damaging |
Het |
Osbpl5 |
T |
A |
7: 143,247,607 (GRCm39) |
I720F |
probably benign |
Homo |
Pbld2 |
T |
A |
10: 62,890,224 (GRCm39) |
Y211N |
possibly damaging |
Het |
Peg3 |
T |
A |
7: 6,714,646 (GRCm39) |
E192V |
probably damaging |
Het |
Ptbp3 |
T |
C |
4: 59,524,413 (GRCm39) |
T38A |
possibly damaging |
Het |
Scara3 |
C |
A |
14: 66,168,398 (GRCm39) |
M406I |
probably damaging |
Het |
Serpinf2 |
C |
A |
11: 75,323,510 (GRCm39) |
V399L |
probably benign |
Het |
|
Other mutations in Rpap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01835:Rpap3
|
APN |
15 |
97,601,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02714:Rpap3
|
APN |
15 |
97,594,458 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03409:Rpap3
|
APN |
15 |
97,579,620 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0095:Rpap3
|
UTSW |
15 |
97,578,417 (GRCm39) |
splice site |
probably benign |
|
R0847:Rpap3
|
UTSW |
15 |
97,601,082 (GRCm39) |
critical splice donor site |
probably null |
|
R1496:Rpap3
|
UTSW |
15 |
97,584,364 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1562:Rpap3
|
UTSW |
15 |
97,592,098 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1603:Rpap3
|
UTSW |
15 |
97,599,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1801:Rpap3
|
UTSW |
15 |
97,592,090 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2163:Rpap3
|
UTSW |
15 |
97,578,229 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4969:Rpap3
|
UTSW |
15 |
97,584,407 (GRCm39) |
missense |
probably benign |
|
R5226:Rpap3
|
UTSW |
15 |
97,601,104 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6610:Rpap3
|
UTSW |
15 |
97,586,049 (GRCm39) |
missense |
probably benign |
0.24 |
R6613:Rpap3
|
UTSW |
15 |
97,579,722 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7040:Rpap3
|
UTSW |
15 |
97,576,993 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7429:Rpap3
|
UTSW |
15 |
97,586,031 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7430:Rpap3
|
UTSW |
15 |
97,586,031 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7829:Rpap3
|
UTSW |
15 |
97,579,589 (GRCm39) |
missense |
probably benign |
0.02 |
R7853:Rpap3
|
UTSW |
15 |
97,576,299 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8223:Rpap3
|
UTSW |
15 |
97,589,185 (GRCm39) |
missense |
probably benign |
0.02 |
R8366:Rpap3
|
UTSW |
15 |
97,579,548 (GRCm39) |
missense |
probably benign |
0.18 |
R8897:Rpap3
|
UTSW |
15 |
97,585,998 (GRCm39) |
missense |
probably benign |
0.02 |
R9043:Rpap3
|
UTSW |
15 |
97,584,443 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9144:Rpap3
|
UTSW |
15 |
97,589,184 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9453:Rpap3
|
UTSW |
15 |
97,579,641 (GRCm39) |
missense |
|
|
R9530:Rpap3
|
UTSW |
15 |
97,579,655 (GRCm39) |
missense |
probably benign |
|
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to T transversion at position 810 of the Rpap3 transcript in exon 7 of 17 total exons. The mutated nucleotide causes a glutamic acid to valine substitution at amino acid 241 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Rpap3 gene encodes a 660 amino acid protein that belongs to the RPAP3 ( RNA polymerase II-associated protein) family. RPAP3 forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. The protein contains seven TPRs (tetratrico peptide repeats) at amino acids 8-41, 134-167, 169-201, 202, 235, 284-317, 319-351, and 352-385. These repeats mediate protein-protein interactions and the assembly of multiprotein complexes (Uniprot Q9D706).
The E241V change is predicted to be probably damaging by the PolyPhen program.
|
Posted On |
2010-03-02 |