Incidental Mutation 'IGL02343:Rpap2'
ID |
289207 |
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 # |
IGL02343
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
107745239-107809704 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 107766047 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
T |
A |
2: 22,977,507 (GRCm39) |
N168K |
possibly damaging |
Het |
Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
Apba2 |
A |
G |
7: 64,344,894 (GRCm39) |
E28G |
probably damaging |
Het |
Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
Esr2 |
C |
T |
12: 76,192,119 (GRCm39) |
R303H |
probably benign |
Het |
Fbxo41 |
T |
G |
6: 85,455,153 (GRCm39) |
L617F |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
Stk40 |
A |
G |
4: 126,030,695 (GRCm39) |
Y305C |
probably damaging |
Het |
Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
T |
C |
A |
17: 8,658,732 (GRCm39) |
|
probably benign |
Het |
Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
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 |
IGL01837:Rpap2
|
APN |
5 |
107,773,835 (GRCm39) |
critical splice donor 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 |
2015-04-16 |