Incidental Mutation 'R0095:Rpap3'
ID |
17955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpap3
|
Ensembl Gene |
ENSMUSG00000022466 |
Gene Name |
RNA polymerase II associated protein 3 |
Synonyms |
D15Ertd682e, 2310042P20Rik |
MMRRC Submission |
038381-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0095 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97572978-97603706 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 97578417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023104]
|
AlphaFold |
Q9D706 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023104
|
SMART Domains |
Protein: ENSMUSP00000023104 Gene: ENSMUSG00000022466
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229109
|
Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
Validation Efficiency |
88% (50/57) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
T |
C |
1: 9,630,402 (GRCm39) |
I317T |
possibly damaging |
Het |
Aldh3a2 |
C |
T |
11: 61,141,774 (GRCm39) |
G21D |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
Cacnb2 |
G |
T |
2: 14,963,586 (GRCm39) |
V61F |
probably damaging |
Het |
Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
Gpr3 |
T |
A |
4: 132,938,597 (GRCm39) |
D25V |
probably benign |
Het |
Gstm7 |
A |
T |
3: 107,837,879 (GRCm39) |
|
probably benign |
Het |
Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
probably damaging |
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 |
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 |
|
YA93:Rpap3
|
UTSW |
15 |
97,591,114 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2013-03-25 |