Incidental Mutation 'R0568:Polr3d'
| ID |
46275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3d
|
| Ensembl Gene |
ENSMUSG00000000776 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide D |
| Synonyms |
2810426M17Rik, TSBN51, 44kDa, RPC4, BN51T |
| MMRRC Submission |
038759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70676197-70680887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70676959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 378
(H378Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000793]
[ENSMUST00000180358]
|
| AlphaFold |
Q91WD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000793
AA Change: H378Q
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000000793
Gene: ENSMUSG00000000776
AA Change: H378Q
| 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 |
possibly damaging
Transcript: ENSMUST00000180358
AA Change: H378Q
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137614
Gene: ENSMUSG00000000776
AA Change: H378Q
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
G |
A |
4: 49,451,003 (GRCm39) |
T36I |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,189,594 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,336,789 (GRCm39) |
L1558S |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,114,377 (GRCm39) |
|
probably null |
Het |
| Bag2 |
T |
C |
1: 33,786,059 (GRCm39) |
M88V |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,908,173 (GRCm39) |
|
probably null |
Het |
| C8b |
A |
G |
4: 104,650,577 (GRCm39) |
I462V |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,818,872 (GRCm39) |
T181I |
possibly damaging |
Het |
| Cfap410 |
A |
T |
10: 77,820,381 (GRCm39) |
*250C |
probably null |
Het |
| Cnpy4 |
A |
G |
5: 138,190,839 (GRCm39) |
E167G |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,939,704 (GRCm39) |
V624A |
possibly damaging |
Het |
| Gm4553 |
G |
T |
7: 141,719,357 (GRCm39) |
P24T |
unknown |
Het |
| Gna12 |
A |
G |
5: 140,746,638 (GRCm39) |
V269A |
possibly damaging |
Het |
| Gtf2ird2 |
G |
T |
5: 134,240,083 (GRCm39) |
E302* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,305,248 (GRCm39) |
S3140R |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,153,703 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
T |
7: 4,687,431 (GRCm39) |
L60* |
probably null |
Het |
| Lats1 |
A |
T |
10: 7,588,292 (GRCm39) |
I970F |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,559,442 (GRCm39) |
|
probably benign |
Het |
| Lrrc3 |
T |
A |
10: 77,737,419 (GRCm39) |
R6W |
probably damaging |
Het |
| Lxn |
C |
T |
3: 67,368,335 (GRCm39) |
A143T |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,765,903 (GRCm39) |
I1390T |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,386,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,580 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,433,694 (GRCm39) |
V581A |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,637,631 (GRCm39) |
V173A |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syngr3 |
C |
T |
17: 24,905,555 (GRCm39) |
A140T |
probably benign |
Het |
| Tent2 |
A |
G |
13: 93,291,500 (GRCm39) |
S381P |
probably benign |
Het |
| Tprn |
T |
C |
2: 25,154,333 (GRCm39) |
V545A |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,902 (GRCm39) |
H828R |
probably benign |
Het |
| Ugt2b5 |
G |
A |
5: 87,285,224 (GRCm39) |
|
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,973,487 (GRCm39) |
V432A |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,994,952 (GRCm39) |
D401E |
probably damaging |
Het |
|
| Other mutations in Polr3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02653:Polr3d
|
APN |
14 |
70,677,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGGACTACAGCCAAAGGCTAC -3'
(R):5'- TGGGCAAGGTGACTCTAGATGTGAC -3'
Sequencing Primer
(F):5'- CCAAAGGCTACAACGGGTG -3'
(R):5'- ATGGGAACGACCTGTTCTTTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation