Incidental Mutation 'R7640:Rpap1'
ID |
590168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpap1
|
Ensembl Gene |
ENSMUSG00000034032 |
Gene Name |
RNA polymerase II associated protein 1 |
Synonyms |
A730023M06Rik, 1190005L06Rik |
MMRRC Submission |
045698-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R7640 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119594440-119618018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119594891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1372
(P1372L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028759]
[ENSMUST00000048493]
[ENSMUST00000082130]
[ENSMUST00000099529]
[ENSMUST00000110793]
[ENSMUST00000136419]
[ENSMUST00000184294]
|
AlphaFold |
Q80TE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028759
|
SMART Domains |
Protein: ENSMUSP00000028759 Gene: ENSMUSG00000027297
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Gly_rich
|
111 |
381 |
2.4e-21 |
PFAM |
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
TyrKc
|
506 |
773 |
2.61e-127 |
SMART |
low complexity region
|
824 |
841 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048493
AA Change: P1372L
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037275 Gene: ENSMUSG00000034032 AA Change: P1372L
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: ENSMUST00000082130
|
SMART Domains |
Protein: ENSMUSP00000080774 Gene: ENSMUSG00000027297
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Gly_rich
|
109 |
294 |
6.1e-16 |
PFAM |
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
TyrKc
|
445 |
712 |
2.61e-127 |
SMART |
low complexity region
|
763 |
780 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099529
AA Change: P1372L
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097127 Gene: ENSMUSG00000034032 AA Change: P1372L
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: P1372L
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106420 Gene: ENSMUSG00000034032 AA Change: P1372L
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: ENSMUST00000136419
|
SMART Domains |
Protein: ENSMUSP00000138619 Gene: ENSMUSG00000034032
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (68/69) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
T |
4: 137,181,905 (GRCm39) |
N20I |
probably damaging |
Het |
4930558K02Rik |
A |
G |
1: 161,784,718 (GRCm39) |
S74P |
probably benign |
Het |
Abcb6 |
A |
T |
1: 75,151,489 (GRCm39) |
|
probably null |
Het |
Adamts14 |
C |
A |
10: 61,081,836 (GRCm39) |
A234S |
probably benign |
Het |
Ankrd42 |
A |
G |
7: 92,268,843 (GRCm39) |
S167P |
probably benign |
Het |
Ap3m1 |
T |
C |
14: 21,088,243 (GRCm39) |
I272V |
probably benign |
Het |
Armt1 |
T |
C |
10: 4,403,572 (GRCm39) |
F219S |
probably damaging |
Het |
Atr |
T |
G |
9: 95,789,346 (GRCm39) |
|
probably null |
Het |
Cep72 |
G |
A |
13: 74,206,607 (GRCm39) |
Q72* |
probably null |
Het |
Clock |
G |
T |
5: 76,396,225 (GRCm39) |
L175M |
possibly damaging |
Het |
Cnmd |
T |
A |
14: 79,898,974 (GRCm39) |
Y26F |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
Cuta |
C |
T |
17: 27,157,396 (GRCm39) |
V135I |
probably benign |
Het |
Ddx41 |
A |
T |
13: 55,682,052 (GRCm39) |
M241K |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,998,995 (GRCm39) |
N60S |
probably damaging |
Het |
Drc3 |
A |
G |
11: 60,279,730 (GRCm39) |
M432V |
probably benign |
Het |
Dync2i2 |
T |
G |
2: 29,921,780 (GRCm39) |
D527A |
probably benign |
Het |
Eef1d |
C |
A |
15: 75,774,556 (GRCm39) |
G368C |
probably damaging |
Het |
En2 |
A |
T |
5: 28,375,164 (GRCm39) |
K236* |
probably null |
Het |
Fas |
A |
G |
19: 34,284,564 (GRCm39) |
T24A |
possibly damaging |
Het |
Golga2 |
T |
C |
2: 32,196,251 (GRCm39) |
V930A |
probably benign |
Het |
Gprin2 |
G |
T |
14: 33,917,710 (GRCm39) |
A20D |
probably benign |
Het |
Ighv14-4 |
A |
T |
12: 114,140,064 (GRCm39) |
C115* |
probably null |
Het |
Impdh2 |
T |
C |
9: 108,442,380 (GRCm39) |
Y459H |
possibly damaging |
Het |
Klhdc7b |
G |
T |
15: 89,271,463 (GRCm39) |
V124L |
possibly damaging |
Het |
L2hgdh |
A |
T |
12: 69,768,131 (GRCm39) |
Y122* |
probably null |
Het |
Lamc2 |
A |
T |
1: 153,012,550 (GRCm39) |
I708N |
possibly damaging |
Het |
Large2 |
T |
C |
2: 92,205,050 (GRCm39) |
M1V |
probably null |
Het |
Lrit2 |
T |
C |
14: 36,794,081 (GRCm39) |
W382R |
probably damaging |
Het |
Mcee |
T |
A |
7: 64,061,716 (GRCm39) |
V173E |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,682,342 (GRCm39) |
V493E |
probably benign |
Het |
Mfap4 |
A |
G |
11: 61,377,913 (GRCm39) |
N118D |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,504,400 (GRCm39) |
S301G |
probably benign |
Het |
Mlf1 |
G |
A |
3: 67,300,266 (GRCm39) |
M94I |
possibly damaging |
Het |
Mrc2 |
T |
A |
11: 105,223,121 (GRCm39) |
S455T |
possibly damaging |
Het |
Mrgprb5 |
T |
G |
7: 47,818,007 (GRCm39) |
I243L |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,580,479 (GRCm39) |
P360T |
|
Het |
Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
Nscme3l |
T |
A |
19: 5,553,035 (GRCm39) |
S249C |
probably damaging |
Het |
Nts |
T |
C |
10: 102,326,165 (GRCm39) |
Q7R |
possibly damaging |
Het |
Oas1b |
T |
C |
5: 120,959,479 (GRCm39) |
L288P |
probably damaging |
Het |
Or4a66 |
T |
A |
2: 88,531,230 (GRCm39) |
I148L |
probably benign |
Het |
Or51k2 |
A |
T |
7: 103,596,150 (GRCm39) |
I126F |
probably damaging |
Het |
Or5w11 |
A |
G |
2: 87,459,436 (GRCm39) |
I94V |
probably benign |
Het |
Or8k30 |
A |
G |
2: 86,339,287 (GRCm39) |
I161M |
possibly damaging |
Het |
Otoa |
A |
G |
7: 120,744,849 (GRCm39) |
E869G |
probably damaging |
Het |
Pcdhac2 |
T |
C |
18: 37,277,578 (GRCm39) |
L186P |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,918,204 (GRCm39) |
E1271G |
possibly damaging |
Het |
Pmepa1 |
C |
T |
2: 173,117,956 (GRCm39) |
A8T |
probably benign |
Het |
Pramel24 |
T |
C |
4: 143,453,276 (GRCm39) |
V128A |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,267,861 (GRCm39) |
|
probably null |
Het |
Rlf |
T |
A |
4: 121,003,998 (GRCm39) |
M1771L |
possibly damaging |
Het |
Rragd |
A |
T |
4: 32,983,527 (GRCm39) |
D22V |
probably benign |
Het |
Sema3f |
A |
T |
9: 107,560,774 (GRCm39) |
S644R |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Spata31h1 |
T |
A |
10: 82,130,490 (GRCm39) |
N840I |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,093,703 (GRCm39) |
N717K |
probably damaging |
Het |
Sphkap |
C |
T |
1: 83,256,649 (GRCm39) |
D367N |
possibly damaging |
Het |
Tbc1d21 |
C |
T |
9: 58,268,544 (GRCm39) |
V272M |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,028,690 (GRCm39) |
|
probably null |
Het |
Tmem132c |
A |
G |
5: 127,640,070 (GRCm39) |
D747G |
probably damaging |
Het |
Trim2 |
C |
A |
3: 84,098,213 (GRCm39) |
V372F |
probably benign |
Het |
Ttc34 |
A |
G |
4: 154,945,841 (GRCm39) |
T292A |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,553,384 (GRCm39) |
T919A |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,477,540 (GRCm39) |
I3385T |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,507,905 (GRCm39) |
K813R |
probably damaging |
Het |
Zfp850 |
T |
C |
7: 27,688,634 (GRCm39) |
T525A |
probably benign |
Het |
Zfp873 |
T |
C |
10: 81,896,109 (GRCm39) |
I280T |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,725,121 (GRCm39) |
T697A |
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 |
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 |
|
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 |
|
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'- AGGCAAGTCTTGTGTTGCC -3'
(R):5'- CAGGATGAGGTAAAGACTGCCC -3'
Sequencing Primer
(F):5'- TTCTCTCGGGAGGCTCACTG -3'
(R):5'- CGAAGGAGTATGCTGCAGAGAAC -3'
|
Posted On |
2019-10-24 |