Incidental Mutation 'R6353:Rpap1'
| ID |
512280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpap1
|
| Ensembl Gene |
ENSMUSG00000034032 |
| Gene Name |
RNA polymerase II associated protein 1 |
| Synonyms |
A730023M06Rik, 1190005L06Rik |
| MMRRC Submission |
044505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119594440-119618018 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 119607377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048493]
[ENSMUST00000099529]
[ENSMUST00000110793]
[ENSMUST00000136419]
[ENSMUST00000184294]
|
| AlphaFold |
Q80TE0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048493
|
| SMART Domains |
Protein: ENSMUSP00000037275
Gene: ENSMUSG00000034032
| 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 null
Transcript: ENSMUST00000099529
|
| SMART Domains |
Protein: ENSMUSP00000097127
Gene: ENSMUSG00000034032
| 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 null
Transcript: ENSMUST00000110793
|
| SMART Domains |
Protein: ENSMUSP00000106420
Gene: ENSMUSG00000034032
| 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 |
probably benign
Transcript: ENSMUST00000184294
|
| SMART Domains |
Protein: ENSMUSP00000138873
Gene: ENSMUSG00000034032
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
| Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
| Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
| Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
| Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
| Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
| Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
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 |
|
|
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 |
|
|
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'- AAATGATGGTGCCTGCCTTC -3'
(R):5'- TCAGGGGCTACATAGGTGTG -3'
Sequencing Primer
(F):5'- CCATACCTGGGGTTCTTGGC -3'
(R):5'- GGGCTGGCAGGGTCATTAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation