Incidental Mutation 'IGL02999:Rpap2'
ID |
407223 |
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 # |
IGL02999
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
107745239-107809704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107749697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 74
(F74I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065422]
[ENSMUST00000078021]
[ENSMUST00000082121]
[ENSMUST00000100949]
[ENSMUST00000112650]
[ENSMUST00000112651]
[ENSMUST00000112654]
[ENSMUST00000112655]
[ENSMUST00000129483]
[ENSMUST00000124546]
[ENSMUST00000150074]
[ENSMUST00000124140]
|
AlphaFold |
Q8VC34 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065422
AA Change: F74I
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070209 Gene: ENSMUSG00000033773 AA Change: F74I
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 benign
Transcript: ENSMUST00000078021
|
SMART Domains |
Protein: ENSMUSP00000077168 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
563 |
5.6e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082121
|
SMART Domains |
Protein: ENSMUSP00000080766 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
563 |
3.5e-99 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100949
|
SMART Domains |
Protein: ENSMUSP00000098509 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
404 |
1.1e-63 |
PFAM |
Pfam:Kinetochor_Ybp2
|
402 |
499 |
1.5e-17 |
PFAM |
|
Predicted Effect |
probably benign
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 benign
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 |
possibly damaging
Transcript: ENSMUST00000112654
AA Change: F74I
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108273 Gene: ENSMUSG00000033773 AA Change: F74I
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 |
possibly damaging
Transcript: ENSMUST00000112655
AA Change: F74I
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108274 Gene: ENSMUSG00000033773 AA Change: F74I
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: ENSMUST00000147284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148505
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143113
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129483
|
SMART Domains |
Protein: ENSMUSP00000142510 Gene: ENSMUSG00000033773
Domain | Start | End | E-Value | Type |
Pfam:RPAP2_Rtr1
|
1 |
74 |
5.2e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124546
|
SMART Domains |
Protein: ENSMUSP00000122129 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
95 |
6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150074
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124140
|
SMART Domains |
Protein: ENSMUSP00000123224 Gene: ENSMUSG00000029276
Domain | Start | End | E-Value | Type |
Pfam:Kinetochor_Ybp2
|
1 |
100 |
5.8e-19 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
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 |
|
IGL02343:Rpap2
|
APN |
5 |
107,766,047 (GRCm39) |
splice site |
probably null |
|
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 |
2016-08-02 |