Incidental Mutation 'IGL03409:Rpap3'
| ID |
421723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpap3
|
| Ensembl Gene |
ENSMUSG00000022466 |
| Gene Name |
RNA polymerase II associated protein 3 |
| Synonyms |
D15Ertd682e, 2310042P20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97572978-97603706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97579620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 464
(T464M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023104]
|
| AlphaFold |
Q9D706 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023104
AA Change: T464M
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: T464M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
TPR
|
134 |
167 |
1.12e-7 |
SMART |
|
TPR
|
168 |
201 |
2.07e1 |
SMART |
|
TPR
|
202 |
235 |
2.36e-6 |
SMART |
|
low complexity region
|
252 |
273 |
N/A |
INTRINSIC |
|
TPR
|
284 |
317 |
6.58e-5 |
SMART |
|
TPR
|
318 |
351 |
4.45e-2 |
SMART |
|
TPR
|
352 |
385 |
3.87e-2 |
SMART |
|
Pfam:RPAP3_C
|
540 |
631 |
3.8e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229109
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
All alleles(10) : Targeted, other(1) Gene trapped(9) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
T |
8: 124,691,762 (GRCm39) |
M401K |
possibly damaging |
Het |
| Ablim3 |
T |
A |
18: 61,978,922 (GRCm39) |
H203L |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aox1 |
T |
G |
1: 58,393,588 (GRCm39) |
D1249E |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,353,423 (GRCm39) |
I1116V |
possibly damaging |
Het |
| Atad3a |
T |
C |
4: 155,831,807 (GRCm39) |
D489G |
probably damaging |
Het |
| Caln1 |
G |
T |
5: 130,646,719 (GRCm39) |
G52C |
probably damaging |
Het |
| Clcn7 |
A |
G |
17: 25,374,359 (GRCm39) |
T467A |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,654,979 (GRCm39) |
I599N |
possibly damaging |
Het |
| Cul2 |
T |
A |
18: 3,429,593 (GRCm39) |
H547Q |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,440,320 (GRCm39) |
T80A |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,581,401 (GRCm39) |
Y407N |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,611,748 (GRCm39) |
I108N |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,124,720 (GRCm39) |
|
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,807,916 (GRCm39) |
H290P |
probably benign |
Het |
| Gm16223 |
T |
A |
5: 42,225,336 (GRCm39) |
W12R |
unknown |
Het |
| Herc2 |
C |
A |
7: 55,878,317 (GRCm39) |
H4623Q |
probably damaging |
Het |
| Igkv18-36 |
A |
T |
6: 69,969,589 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Kif7 |
T |
C |
7: 79,357,301 (GRCm39) |
E635G |
probably benign |
Het |
| Or2t47 |
T |
C |
11: 58,442,388 (GRCm39) |
K226E |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,931 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or52z13 |
T |
A |
7: 103,246,574 (GRCm39) |
M17K |
possibly damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,239 (GRCm39) |
N285K |
probably damaging |
Het |
| Pam |
C |
A |
1: 97,792,054 (GRCm39) |
A456S |
probably benign |
Het |
| Pgap3 |
T |
C |
11: 98,289,764 (GRCm39) |
T76A |
possibly damaging |
Het |
| Pkd2 |
C |
A |
5: 104,637,215 (GRCm39) |
Y609* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,310,234 (GRCm39) |
D362G |
probably damaging |
Het |
| Polr3h |
C |
A |
15: 81,801,595 (GRCm39) |
A94S |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,186 (GRCm39) |
D76G |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,320,129 (GRCm39) |
V670A |
probably damaging |
Het |
| Rufy1 |
T |
A |
11: 50,297,310 (GRCm39) |
I381L |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,256,506 (GRCm39) |
T442A |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,100,670 (GRCm39) |
S472P |
probably damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,287,294 (GRCm39) |
T501A |
possibly damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,555,181 (GRCm39) |
D801Y |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,179,193 (GRCm39) |
Y111C |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,127,240 (GRCm39) |
R543* |
probably null |
Het |
| Vmn1r74 |
T |
G |
7: 11,581,240 (GRCm39) |
L180R |
probably damaging |
Het |
| Vps45 |
T |
G |
3: 95,960,401 (GRCm39) |
E80A |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,107 (GRCm39) |
Y55H |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,900,130 (GRCm39) |
V289A |
probably benign |
Het |
|
| Other mutations in Rpap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01835:Rpap3
|
APN |
15 |
97,601,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02714:Rpap3
|
APN |
15 |
97,594,458 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0095:Rpap3
|
UTSW |
15 |
97,578,417 (GRCm39) |
splice site |
probably benign |
|
|
R0847:Rpap3
|
UTSW |
15 |
97,601,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1496:Rpap3
|
UTSW |
15 |
97,584,364 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1562:Rpap3
|
UTSW |
15 |
97,592,098 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1603:Rpap3
|
UTSW |
15 |
97,599,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1801:Rpap3
|
UTSW |
15 |
97,592,090 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2163:Rpap3
|
UTSW |
15 |
97,578,229 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4969:Rpap3
|
UTSW |
15 |
97,584,407 (GRCm39) |
missense |
probably benign |
|
|
R5226:Rpap3
|
UTSW |
15 |
97,601,104 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6610:Rpap3
|
UTSW |
15 |
97,586,049 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6613:Rpap3
|
UTSW |
15 |
97,579,722 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7040:Rpap3
|
UTSW |
15 |
97,576,993 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7429:Rpap3
|
UTSW |
15 |
97,586,031 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7430:Rpap3
|
UTSW |
15 |
97,586,031 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7829:Rpap3
|
UTSW |
15 |
97,579,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7853:Rpap3
|
UTSW |
15 |
97,576,299 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8223:Rpap3
|
UTSW |
15 |
97,589,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8366:Rpap3
|
UTSW |
15 |
97,579,548 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8897:Rpap3
|
UTSW |
15 |
97,585,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9043:Rpap3
|
UTSW |
15 |
97,584,443 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9144:Rpap3
|
UTSW |
15 |
97,589,184 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9453:Rpap3
|
UTSW |
15 |
97,579,641 (GRCm39) |
missense |
|
|
|
R9530:Rpap3
|
UTSW |
15 |
97,579,655 (GRCm39) |
missense |
probably benign |
|
|
YA93:Rpap3
|
UTSW |
15 |
97,591,114 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2016-08-02 |
Incidental Mutation