Incidental Mutation 'IGL01837:Rpap2'
ID |
155011 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rpap2
|
Ensembl Gene |
ENSMUSG00000033773 |
Gene Name |
RNA polymerase II associated protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01837
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
107745239-107809704 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 107773835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065422]
[ENSMUST00000112650]
[ENSMUST00000112651]
[ENSMUST00000112654]
[ENSMUST00000112655]
|
AlphaFold |
Q8VC34 |
Predicted Effect |
probably null
Transcript: ENSMUST00000065422
|
SMART Domains |
Protein: ENSMUSP00000070209 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
80 |
152 |
3.6e-26 |
PFAM |
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112650
|
SMART Domains |
Protein: ENSMUSP00000108269 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
1 |
74 |
1.7e-28 |
PFAM |
low complexity region
|
129 |
142 |
N/A |
INTRINSIC |
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112651
|
SMART Domains |
Protein: ENSMUSP00000108270 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
1 |
76 |
1.9e-28 |
PFAM |
low complexity region
|
131 |
144 |
N/A |
INTRINSIC |
low complexity region
|
296 |
307 |
N/A |
INTRINSIC |
low complexity region
|
482 |
496 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112654
|
SMART Domains |
Protein: ENSMUSP00000108273 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
78 |
153 |
1.8e-28 |
PFAM |
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112655
|
SMART Domains |
Protein: ENSMUSP00000108274 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
78 |
153 |
4.1e-28 |
PFAM |
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
low complexity region
|
560 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149156
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,627,671 (GRCm39) |
F1372L |
probably damaging |
Het |
Alcam |
T |
A |
16: 52,073,531 (GRCm39) |
N339I |
probably benign |
Het |
Ankrd35 |
A |
C |
3: 96,587,982 (GRCm39) |
D141A |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,150,492 (GRCm39) |
I1820V |
probably benign |
Het |
Ccp110 |
T |
A |
7: 118,324,684 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,946,419 (GRCm39) |
D954E |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,313,363 (GRCm39) |
I1347F |
possibly damaging |
Het |
Ddx10 |
A |
G |
9: 53,140,498 (GRCm39) |
I301T |
probably benign |
Het |
Defb23 |
T |
A |
2: 152,301,294 (GRCm39) |
M93L |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,970,565 (GRCm39) |
|
probably null |
Het |
Dok3 |
T |
C |
13: 55,671,383 (GRCm39) |
E396G |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,727,055 (GRCm39) |
M1318L |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,343,167 (GRCm39) |
|
probably benign |
Het |
Gm11992 |
A |
T |
11: 9,011,266 (GRCm39) |
R236W |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,734,452 (GRCm39) |
I1513V |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,951,759 (GRCm39) |
E25G |
possibly damaging |
Het |
Ighg2b |
C |
T |
12: 113,270,065 (GRCm39) |
E318K |
unknown |
Het |
Itga4 |
T |
C |
2: 79,145,349 (GRCm39) |
S722P |
probably damaging |
Het |
Kirrel3 |
G |
A |
9: 34,946,224 (GRCm39) |
R617H |
probably damaging |
Het |
Mboat1 |
A |
T |
13: 30,425,166 (GRCm39) |
H409L |
possibly damaging |
Het |
Naa15 |
A |
T |
3: 51,351,369 (GRCm39) |
K180* |
probably null |
Het |
Nccrp1 |
A |
G |
7: 28,246,191 (GRCm39) |
S124P |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,573,338 (GRCm39) |
I92T |
probably damaging |
Het |
Or13a28 |
G |
A |
7: 140,218,124 (GRCm39) |
C170Y |
probably damaging |
Het |
Or6d14 |
C |
A |
6: 116,533,807 (GRCm39) |
Y140* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
Plcb2 |
C |
T |
2: 118,542,407 (GRCm39) |
|
probably null |
Het |
Pramel19 |
A |
G |
4: 101,798,650 (GRCm39) |
E207G |
probably damaging |
Het |
Prm2 |
G |
A |
16: 10,609,775 (GRCm39) |
|
probably null |
Het |
R3hdm1 |
C |
T |
1: 128,114,497 (GRCm39) |
Q184* |
probably null |
Het |
Rgl1 |
A |
T |
1: 152,424,901 (GRCm39) |
N359K |
probably damaging |
Het |
Rnf44 |
A |
G |
13: 54,829,966 (GRCm39) |
Y366H |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,631,665 (GRCm39) |
N2120S |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,825,027 (GRCm39) |
|
probably benign |
Het |
Sipa1 |
G |
T |
19: 5,702,099 (GRCm39) |
T937K |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,730,157 (GRCm39) |
D707E |
probably damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,477 (GRCm39) |
N151S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,358 (GRCm39) |
N42S |
probably benign |
Het |
Ttn |
G |
T |
2: 76,732,338 (GRCm39) |
|
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,636 (GRCm39) |
E178G |
probably damaging |
Het |
|
Other mutations in Rpap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00654:Rpap2
|
APN |
5 |
107,751,497 (GRCm39) |
unclassified |
probably benign |
|
IGL01451:Rpap2
|
APN |
5 |
107,751,492 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01583:Rpap2
|
APN |
5 |
107,768,061 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02343:Rpap2
|
APN |
5 |
107,766,047 (GRCm39) |
splice site |
probably null |
|
IGL02999:Rpap2
|
APN |
5 |
107,749,697 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03261:Rpap2
|
APN |
5 |
107,746,426 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03381:Rpap2
|
APN |
5 |
107,768,067 (GRCm39) |
missense |
probably benign |
0.00 |
R0077:Rpap2
|
UTSW |
5 |
107,768,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Rpap2
|
UTSW |
5 |
107,751,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Rpap2
|
UTSW |
5 |
107,780,961 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3039:Rpap2
|
UTSW |
5 |
107,749,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3605:Rpap2
|
UTSW |
5 |
107,768,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R3735:Rpap2
|
UTSW |
5 |
107,803,017 (GRCm39) |
splice site |
probably benign |
|
R4007:Rpap2
|
UTSW |
5 |
107,751,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R4367:Rpap2
|
UTSW |
5 |
107,749,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4448:Rpap2
|
UTSW |
5 |
107,749,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4589:Rpap2
|
UTSW |
5 |
107,768,361 (GRCm39) |
missense |
probably benign |
0.00 |
R4606:Rpap2
|
UTSW |
5 |
107,749,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4799:Rpap2
|
UTSW |
5 |
107,768,113 (GRCm39) |
missense |
probably benign |
0.00 |
R4939:Rpap2
|
UTSW |
5 |
107,751,491 (GRCm39) |
critical splice donor site |
probably null |
|
R5580:Rpap2
|
UTSW |
5 |
107,768,011 (GRCm39) |
missense |
probably benign |
0.12 |
R6003:Rpap2
|
UTSW |
5 |
107,749,767 (GRCm39) |
splice site |
probably null |
|
R6032:Rpap2
|
UTSW |
5 |
107,745,661 (GRCm39) |
missense |
probably damaging |
0.97 |
R6032:Rpap2
|
UTSW |
5 |
107,745,661 (GRCm39) |
missense |
probably damaging |
0.97 |
R6142:Rpap2
|
UTSW |
5 |
107,746,164 (GRCm39) |
missense |
probably benign |
|
R6161:Rpap2
|
UTSW |
5 |
107,768,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R6687:Rpap2
|
UTSW |
5 |
107,751,496 (GRCm39) |
splice site |
probably null |
|
R6761:Rpap2
|
UTSW |
5 |
107,768,104 (GRCm39) |
missense |
probably benign |
|
R6783:Rpap2
|
UTSW |
5 |
107,803,153 (GRCm39) |
missense |
probably damaging |
0.99 |
R7106:Rpap2
|
UTSW |
5 |
107,780,988 (GRCm39) |
nonsense |
probably null |
|
R7314:Rpap2
|
UTSW |
5 |
107,768,245 (GRCm39) |
missense |
probably damaging |
0.96 |
R7402:Rpap2
|
UTSW |
5 |
107,768,324 (GRCm39) |
nonsense |
probably null |
|
R7644:Rpap2
|
UTSW |
5 |
107,768,167 (GRCm39) |
missense |
probably benign |
0.04 |
R7782:Rpap2
|
UTSW |
5 |
107,768,058 (GRCm39) |
missense |
probably benign |
0.08 |
R7890:Rpap2
|
UTSW |
5 |
107,754,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Rpap2
|
UTSW |
5 |
107,751,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Rpap2
|
UTSW |
5 |
107,768,361 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9114:Rpap2
|
UTSW |
5 |
107,746,156 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9475:Rpap2
|
UTSW |
5 |
107,768,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9542:Rpap2
|
UTSW |
5 |
107,768,180 (GRCm39) |
missense |
probably benign |
|
R9631:Rpap2
|
UTSW |
5 |
107,768,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |