Incidental Mutation 'R2307:Rpap1'
ID |
244618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpap1
|
Ensembl Gene |
ENSMUSG00000034032 |
Gene Name |
RNA polymerase II associated protein 1 |
Synonyms |
A730023M06Rik, 1190005L06Rik |
MMRRC Submission |
040306-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R2307 (G1)
|
Quality Score |
157 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
119594440-119618018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119614247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 50
(P50L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048493]
[ENSMUST00000099529]
[ENSMUST00000110793]
[ENSMUST00000136419]
[ENSMUST00000184294]
|
AlphaFold |
Q80TE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048493
AA Change: P50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037275 Gene: ENSMUSG00000034032 AA Change: P50L
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
Pfam:RPAP1_N
|
225 |
270 |
2.4e-21 |
PFAM |
Pfam:RPAP1_C
|
372 |
438 |
1.9e-27 |
PFAM |
low complexity region
|
451 |
473 |
N/A |
INTRINSIC |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
low complexity region
|
843 |
860 |
N/A |
INTRINSIC |
low complexity region
|
989 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1052 |
N/A |
INTRINSIC |
low complexity region
|
1097 |
1108 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099529
AA Change: P50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097127 Gene: ENSMUSG00000034032 AA Change: P50L
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
Pfam:RPAP1_N
|
224 |
272 |
1.7e-21 |
PFAM |
Pfam:RPAP1_C
|
370 |
440 |
2.9e-27 |
PFAM |
low complexity region
|
451 |
473 |
N/A |
INTRINSIC |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
low complexity region
|
843 |
860 |
N/A |
INTRINSIC |
low complexity region
|
989 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1052 |
N/A |
INTRINSIC |
low complexity region
|
1097 |
1108 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110793
AA Change: P50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106420 Gene: ENSMUSG00000034032 AA Change: P50L
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
Pfam:RPAP1_N
|
224 |
272 |
1.7e-21 |
PFAM |
Pfam:RPAP1_C
|
370 |
440 |
2.9e-27 |
PFAM |
low complexity region
|
451 |
473 |
N/A |
INTRINSIC |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
low complexity region
|
843 |
860 |
N/A |
INTRINSIC |
low complexity region
|
989 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1052 |
N/A |
INTRINSIC |
low complexity region
|
1097 |
1108 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133146
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136419
AA Change: P50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138619 Gene: ENSMUSG00000034032 AA Change: P50L
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184294
AA Change: P50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138873 Gene: ENSMUSG00000034032 AA Change: P50L
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
Pfam:RPAP1_N
|
224 |
272 |
4.8e-22 |
PFAM |
Pfam:RPAP1_C
|
370 |
440 |
1.2e-27 |
PFAM |
low complexity region
|
451 |
473 |
N/A |
INTRINSIC |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
low complexity region
|
843 |
860 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141800
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
Het |
|
Other mutations in Rpap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01807:Rpap1
|
APN |
2 |
119,613,189 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02009:Rpap1
|
APN |
2 |
119,610,594 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02068:Rpap1
|
APN |
2 |
119,613,135 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02100:Rpap1
|
APN |
2 |
119,599,807 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02528:Rpap1
|
APN |
2 |
119,605,431 (GRCm39) |
splice site |
probably null |
|
IGL02530:Rpap1
|
APN |
2 |
119,613,720 (GRCm39) |
splice site |
probably benign |
|
IGL02747:Rpap1
|
APN |
2 |
119,604,609 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03371:Rpap1
|
APN |
2 |
119,605,538 (GRCm39) |
splice site |
probably benign |
|
R0138:Rpap1
|
UTSW |
2 |
119,595,380 (GRCm39) |
splice site |
probably null |
|
R0325:Rpap1
|
UTSW |
2 |
119,602,321 (GRCm39) |
missense |
probably benign |
|
R0616:Rpap1
|
UTSW |
2 |
119,608,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R1081:Rpap1
|
UTSW |
2 |
119,601,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Rpap1
|
UTSW |
2 |
119,614,259 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1837:Rpap1
|
UTSW |
2 |
119,600,366 (GRCm39) |
critical splice donor site |
probably null |
|
R2308:Rpap1
|
UTSW |
2 |
119,614,247 (GRCm39) |
missense |
probably benign |
0.00 |
R2375:Rpap1
|
UTSW |
2 |
119,600,888 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2507:Rpap1
|
UTSW |
2 |
119,610,535 (GRCm39) |
critical splice donor site |
probably null |
|
R2508:Rpap1
|
UTSW |
2 |
119,610,535 (GRCm39) |
critical splice donor site |
probably null |
|
R4155:Rpap1
|
UTSW |
2 |
119,604,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4156:Rpap1
|
UTSW |
2 |
119,604,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4157:Rpap1
|
UTSW |
2 |
119,604,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:Rpap1
|
UTSW |
2 |
119,605,487 (GRCm39) |
missense |
probably benign |
0.03 |
R4837:Rpap1
|
UTSW |
2 |
119,608,732 (GRCm39) |
missense |
probably benign |
0.32 |
R4880:Rpap1
|
UTSW |
2 |
119,614,346 (GRCm39) |
missense |
probably damaging |
0.97 |
R5010:Rpap1
|
UTSW |
2 |
119,600,522 (GRCm39) |
missense |
probably benign |
|
R5111:Rpap1
|
UTSW |
2 |
119,601,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5650:Rpap1
|
UTSW |
2 |
119,604,331 (GRCm39) |
missense |
probably benign |
|
R6144:Rpap1
|
UTSW |
2 |
119,603,128 (GRCm39) |
nonsense |
probably null |
|
R6353:Rpap1
|
UTSW |
2 |
119,607,377 (GRCm39) |
splice site |
probably null |
|
R6646:Rpap1
|
UTSW |
2 |
119,610,612 (GRCm39) |
missense |
probably benign |
0.03 |
R6731:Rpap1
|
UTSW |
2 |
119,608,777 (GRCm39) |
missense |
probably benign |
|
R6872:Rpap1
|
UTSW |
2 |
119,605,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6878:Rpap1
|
UTSW |
2 |
119,608,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Rpap1
|
UTSW |
2 |
119,604,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7558:Rpap1
|
UTSW |
2 |
119,601,735 (GRCm39) |
missense |
probably benign |
|
R7640:Rpap1
|
UTSW |
2 |
119,594,891 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7862:Rpap1
|
UTSW |
2 |
119,605,893 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8055:Rpap1
|
UTSW |
2 |
119,595,284 (GRCm39) |
missense |
probably benign |
0.13 |
R8934:Rpap1
|
UTSW |
2 |
119,599,730 (GRCm39) |
critical splice donor site |
probably null |
|
R9032:Rpap1
|
UTSW |
2 |
119,608,776 (GRCm39) |
missense |
probably benign |
0.00 |
R9220:Rpap1
|
UTSW |
2 |
119,604,669 (GRCm39) |
missense |
probably damaging |
0.99 |
R9422:Rpap1
|
UTSW |
2 |
119,613,519 (GRCm39) |
intron |
probably benign |
|
R9651:Rpap1
|
UTSW |
2 |
119,598,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Rpap1
|
UTSW |
2 |
119,607,278 (GRCm39) |
missense |
probably benign |
0.00 |
X0028:Rpap1
|
UTSW |
2 |
119,601,543 (GRCm39) |
missense |
probably benign |
|
Z1177:Rpap1
|
UTSW |
2 |
119,614,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTCTGGTCCCTCAGTATT -3'
(R):5'- TGCATGGAAAAGATAAAGACCACC -3'
Sequencing Primer
(F):5'- CTGGTCCCTCAGTATTTACAAGAAG -3'
(R):5'- ACCAGGGTTCGGTTGTAACC -3'
|
Posted On |
2014-10-30 |