Incidental Mutation 'R6646:Rpap1'
ID |
527967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpap1
|
Ensembl Gene |
ENSMUSG00000034032 |
Gene Name |
RNA polymerase II associated protein 1 |
Synonyms |
A730023M06Rik, 1190005L06Rik |
MMRRC Submission |
044767-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R6646 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119594440-119618018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119610612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 156
(I156V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048493]
[ENSMUST00000099529]
[ENSMUST00000110793]
[ENSMUST00000136419]
[ENSMUST00000184294]
|
AlphaFold |
Q80TE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048493
AA Change: I156V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000037275 Gene: ENSMUSG00000034032 AA Change: I156V
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: I156V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000097127 Gene: ENSMUSG00000034032 AA Change: I156V
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: I156V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000106420 Gene: ENSMUSG00000034032 AA Change: I156V
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 |
probably benign
Transcript: ENSMUST00000184294
AA Change: I156V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000138873 Gene: ENSMUSG00000034032 AA Change: I156V
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141800
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (41/41) |
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 |
Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
probably null |
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 |
|
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 |
|
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'- GGACATTTGAGAGGCTAGGGATG -3'
(R):5'- TCTGCCTCTACCTCCAGAATG -3'
Sequencing Primer
(F):5'- GTCTGTATTTCCAGCAGACCAGAG -3'
(R):5'- ACCTCCAGAATGCTGATTTTAGCTG -3'
|
Posted On |
2018-07-24 |