Incidental Mutation 'IGL02009:Rpap1'
| ID |
182277 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpap1
|
| Ensembl Gene |
ENSMUSG00000034032 |
| Gene Name |
RNA polymerase II associated protein 1 |
| Synonyms |
A730023M06Rik, 1190005L06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119594440-119618018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119610594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 162
(S162P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048493]
[ENSMUST00000099529]
[ENSMUST00000110793]
[ENSMUST00000136419]
[ENSMUST00000184294]
|
| AlphaFold |
Q80TE0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048493
AA Change: S162P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037275
Gene: ENSMUSG00000034032
AA Change: S162P
| 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 |
possibly damaging
Transcript: ENSMUST00000099529
AA Change: S162P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097127
Gene: ENSMUSG00000034032
AA Change: S162P
| 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 |
possibly damaging
Transcript: ENSMUST00000110793
AA Change: S162P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106420
Gene: ENSMUSG00000034032
AA Change: S162P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138619
Gene: ENSMUSG00000034032
| 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: ENSMUST00000141800
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184294
AA Change: S162P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138873
Gene: ENSMUSG00000034032
AA Change: S162P
| 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: ENSMUST00000156506
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
T |
C |
7: 66,051,789 (GRCm39) |
D388G |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
| Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
| Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
| Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
| Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
| Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
| Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
| Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
| Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
| Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
| Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
| Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
| Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
| Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,686 (GRCm39) |
F309L |
possibly damaging |
Het |
| Mstn |
A |
G |
1: 53,101,309 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
| Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
| Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
| Rpl3l |
A |
G |
17: 24,951,407 (GRCm39) |
K103E |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,722,447 (GRCm39) |
V479E |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
| Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,752 (GRCm39) |
D270G |
possibly damaging |
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 |
|
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 |
|
|
R2307:Rpap1
|
UTSW |
2 |
119,614,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation