Incidental Mutation 'R0847:Rpap3'
ID |
77032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpap3
|
Ensembl Gene |
ENSMUSG00000022466 |
Gene Name |
RNA polymerase II associated protein 3 |
Synonyms |
D15Ertd682e, 2310042P20Rik |
MMRRC Submission |
039026-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0847 (G1)
|
Quality Score |
198 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
97572978-97603706 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 97601082 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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,895,764 (GRCm39) |
I899T |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,983,797 (GRCm39) |
Q1694* |
probably null |
Het |
Cblc |
A |
T |
7: 19,524,459 (GRCm39) |
Y260* |
probably null |
Het |
Ccn4 |
T |
G |
15: 66,791,124 (GRCm39) |
C309G |
probably damaging |
Het |
Ceacam5 |
A |
G |
7: 17,491,762 (GRCm39) |
T711A |
possibly damaging |
Het |
Cep63 |
A |
G |
9: 102,465,957 (GRCm39) |
S690P |
probably benign |
Het |
Chia1 |
A |
T |
3: 106,039,253 (GRCm39) |
I448F |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,313,112 (GRCm39) |
F1712I |
probably damaging |
Het |
Ecpas |
G |
A |
4: 58,841,439 (GRCm39) |
T645I |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,695 (GRCm39) |
V109A |
probably damaging |
Het |
Fxyd7 |
A |
G |
7: 30,744,029 (GRCm39) |
C60R |
probably damaging |
Het |
Gm17349 |
C |
A |
15: 99,600,289 (GRCm39) |
|
probably benign |
Het |
Gpn2 |
A |
G |
4: 133,315,906 (GRCm39) |
N199D |
probably benign |
Het |
Ints12 |
C |
T |
3: 132,814,603 (GRCm39) |
T270M |
possibly damaging |
Het |
Kdm4a |
C |
T |
4: 118,021,695 (GRCm39) |
E266K |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,963,634 (GRCm39) |
T50N |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,293,159 (GRCm39) |
D1249E |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,769,854 (GRCm39) |
K146N |
probably damaging |
Het |
Med20 |
G |
A |
17: 47,922,618 (GRCm39) |
|
probably null |
Het |
Myo18b |
T |
C |
5: 113,022,354 (GRCm39) |
|
probably benign |
Het |
Nav3 |
T |
A |
10: 109,739,718 (GRCm39) |
T84S |
possibly damaging |
Het |
Olfm2 |
A |
G |
9: 20,579,953 (GRCm39) |
V266A |
probably damaging |
Het |
Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
Or5b123 |
C |
T |
19: 13,596,915 (GRCm39) |
H87Y |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,627,327 (GRCm39) |
I44F |
probably damaging |
Het |
Pthlh |
A |
T |
6: 147,164,766 (GRCm39) |
|
probably null |
Het |
Rprd2 |
A |
G |
3: 95,672,725 (GRCm39) |
S893P |
probably benign |
Het |
Sacm1l |
G |
A |
9: 123,377,927 (GRCm39) |
G69D |
probably damaging |
Het |
Slc27a4 |
T |
C |
2: 29,701,261 (GRCm39) |
S351P |
probably benign |
Het |
Sobp |
C |
G |
10: 42,898,415 (GRCm39) |
R390P |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,614,689 (GRCm39) |
M107K |
possibly damaging |
Het |
Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
Stab2 |
T |
C |
10: 86,805,735 (GRCm39) |
I204V |
probably benign |
Het |
Synm |
T |
C |
7: 67,384,804 (GRCm39) |
I511V |
probably damaging |
Het |
Tbr1 |
T |
C |
2: 61,635,373 (GRCm39) |
S108P |
probably benign |
Het |
Tln1 |
A |
G |
4: 43,555,333 (GRCm39) |
F197S |
probably damaging |
Het |
Tmem167b |
C |
T |
3: 108,467,537 (GRCm39) |
G46R |
probably benign |
Het |
Tmprss11g |
T |
C |
5: 86,638,585 (GRCm39) |
K301R |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,765,122 (GRCm39) |
V960M |
possibly damaging |
Het |
Ube3a |
G |
A |
7: 58,926,334 (GRCm39) |
D371N |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,078,225 (GRCm39) |
F78I |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCGACAGCACATTTTACAGGGC -3'
(R):5'- ACTTGGCAGGACACGATGACTTC -3'
Sequencing Primer
(F):5'- cgattcctggagcccac -3'
(R):5'- TGACTTCGGCGAGTAAGGC -3'
|
Posted On |
2013-10-16 |