Incidental Mutation 'IGL02653:Polr3d'
| ID |
302236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3d
|
| Ensembl Gene |
ENSMUSG00000000776 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide D |
| Synonyms |
2810426M17Rik, TSBN51, 44kDa, RPC4, BN51T |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL02653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70676197-70680887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70677557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 273
(D273G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000793]
[ENSMUST00000180358]
|
| AlphaFold |
Q91WD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000793
AA Change: D273G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000793
Gene: ENSMUSG00000000776
AA Change: D273G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
241 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpc4
|
263 |
389 |
7.9e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083594
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180358
AA Change: D273G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137614
Gene: ENSMUSG00000000776
AA Change: D273G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
241 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpc4
|
262 |
389 |
3e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227985
|
| 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 complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
| Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
| Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
| Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
| Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
| Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
| Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
| Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
probably damaging |
Het |
|
| Other mutations in Polr3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03006:Polr3d
|
APN |
14 |
70,678,603 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
G1patch:Polr3d
|
UTSW |
14 |
70,678,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4449001:Polr3d
|
UTSW |
14 |
70,676,903 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0568:Polr3d
|
UTSW |
14 |
70,676,959 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1435:Polr3d
|
UTSW |
14 |
70,677,479 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1710:Polr3d
|
UTSW |
14 |
70,680,450 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1714:Polr3d
|
UTSW |
14 |
70,678,755 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1748:Polr3d
|
UTSW |
14 |
70,676,915 (GRCm39) |
nonsense |
probably null |
|
|
R2136:Polr3d
|
UTSW |
14 |
70,680,487 (GRCm39) |
frame shift |
probably null |
|
|
R5506:Polr3d
|
UTSW |
14 |
70,678,199 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5984:Polr3d
|
UTSW |
14 |
70,676,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6725:Polr3d
|
UTSW |
14 |
70,678,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6880:Polr3d
|
UTSW |
14 |
70,677,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7447:Polr3d
|
UTSW |
14 |
70,677,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9053:Polr3d
|
UTSW |
14 |
70,678,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation