Incidental Mutation 'R6613:Rpap3'
| ID |
523801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpap3
|
| Ensembl Gene |
ENSMUSG00000022466 |
| Gene Name |
RNA polymerase II associated protein 3 |
| Synonyms |
D15Ertd682e, 2310042P20Rik |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97572978-97603706 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 97579722 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 null
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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,191 (GRCm39) |
F317I |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,330,902 (GRCm39) |
T79S |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,413,246 (GRCm39) |
E357* |
probably null |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
A |
T |
9: 44,293,795 (GRCm39) |
I242F |
probably damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,412 (GRCm39) |
V650A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAGTGTCACTGACTGC -3'
(R):5'- CTGGGAAGGCAAAGAGTTTTATTG -3'
Sequencing Primer
(F):5'- CAACACTTTAGCTCTTGGCC -3'
(R):5'- TGTTTGTGTTCTCAGACATAGTATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation