Incidental Mutation 'R4828:Polr1a'
| ID |
372577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1a
|
| Ensembl Gene |
ENSMUSG00000049553 |
| Gene Name |
polymerase (RNA) I polypeptide A |
| Synonyms |
2900087K15Rik, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4, RPA194 |
| MMRRC Submission |
042444-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71943385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1207
(W1207R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
|
| AlphaFold |
O35134 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055296
AA Change: W1207R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: W1207R
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLA_N
|
302 |
649 |
8.97e-137 |
SMART |
|
Pfam:RNA_pol_Rpb1_4
|
846 |
958 |
1.3e-26 |
PFAM |
|
Pfam:RNA_pol_Rpb1_5
|
965 |
1669 |
7e-103 |
PFAM |
|
low complexity region
|
1698 |
1708 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181028
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205517
AA Change: W232R
|
| Meta Mutation Damage Score |
0.2489 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (106/108) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
All alleles(18) : Gene trapped(18) |
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Adat3 |
T |
C |
10: 80,442,881 (GRCm39) |
S240P |
probably benign |
Het |
| Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
| Alg2 |
A |
G |
4: 47,471,563 (GRCm39) |
V415A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,482,184 (GRCm39) |
E141G |
probably benign |
Het |
| Ampd1 |
A |
C |
3: 102,988,413 (GRCm39) |
T115P |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,632 (GRCm39) |
L1267P |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,441 (GRCm39) |
S315R |
probably damaging |
Het |
| Atp10d |
A |
C |
5: 72,396,461 (GRCm39) |
D222A |
probably benign |
Het |
| B9d1 |
A |
G |
11: 61,398,461 (GRCm39) |
E47G |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,785,968 (GRCm39) |
D118G |
probably damaging |
Het |
| Bnip3l |
G |
T |
14: 67,246,208 (GRCm39) |
P9Q |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,807 (GRCm39) |
N287S |
probably benign |
Het |
| Ccdc190 |
A |
G |
1: 169,761,465 (GRCm39) |
D189G |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,413,210 (GRCm39) |
K583E |
probably damaging |
Het |
| Cd84 |
A |
T |
1: 171,700,315 (GRCm39) |
N144I |
probably damaging |
Het |
| Chrnd |
A |
G |
1: 87,119,293 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
G |
T |
3: 144,550,273 (GRCm39) |
T224K |
probably benign |
Het |
| Crcp |
A |
G |
5: 130,088,603 (GRCm39) |
T119A |
probably damaging |
Het |
| Cul2 |
T |
C |
18: 3,431,013 (GRCm39) |
Y596H |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,610,715 (GRCm39) |
W356R |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,317,400 (GRCm39) |
Q425L |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,167,272 (GRCm39) |
V588D |
possibly damaging |
Het |
| Dock4 |
G |
T |
12: 40,718,436 (GRCm39) |
G245W |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,341,273 (GRCm39) |
I160T |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,361,875 (GRCm39) |
T102A |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,844,229 (GRCm39) |
L425* |
probably null |
Het |
| Elac2 |
A |
G |
11: 64,886,153 (GRCm39) |
E477G |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,112 (GRCm39) |
T316I |
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,777 (GRCm39) |
V694A |
probably benign |
Het |
| Fgg |
G |
A |
3: 82,915,677 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,919,238 (GRCm38) |
V1664I |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,455,166 (GRCm39) |
D1932N |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,409 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai1 |
G |
A |
5: 18,496,470 (GRCm39) |
S151L |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,499,059 (GRCm39) |
R67H |
possibly damaging |
Het |
| Grk5 |
T |
A |
19: 60,976,213 (GRCm39) |
C42* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,404,625 (GRCm39) |
|
probably null |
Het |
| Hey2 |
A |
T |
10: 30,710,179 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Il11 |
A |
G |
7: 4,779,481 (GRCm39) |
V8A |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,408,635 (GRCm39) |
P402L |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,531,140 (GRCm39) |
N2S |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,348,929 (GRCm39) |
Y606H |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,220,934 (GRCm39) |
R650C |
probably damaging |
Het |
| Lrpap1 |
T |
C |
5: 35,259,765 (GRCm39) |
E111G |
possibly damaging |
Het |
| Lrrc36 |
T |
A |
8: 106,181,862 (GRCm39) |
S388T |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,267,950 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
T |
G |
2: 14,275,017 (GRCm39) |
D439E |
probably damaging |
Het |
| Notch4 |
A |
T |
17: 34,789,034 (GRCm39) |
E444D |
probably damaging |
Het |
| Nrm |
G |
A |
17: 36,175,082 (GRCm39) |
V137I |
possibly damaging |
Het |
| Nxpe5 |
T |
A |
5: 138,228,795 (GRCm39) |
L4Q |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,977,496 (GRCm39) |
V2052A |
possibly damaging |
Het |
| Oc90 |
A |
T |
15: 65,753,408 (GRCm39) |
Y304N |
probably damaging |
Het |
| Or13f5 |
T |
C |
4: 52,826,138 (GRCm39) |
V247A |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,180 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Or5p1 |
T |
C |
7: 107,916,677 (GRCm39) |
V192A |
probably benign |
Het |
| Or8b101 |
T |
C |
9: 38,020,036 (GRCm39) |
I13T |
probably damaging |
Het |
| Or8k1 |
T |
A |
2: 86,047,877 (GRCm39) |
H59L |
possibly damaging |
Het |
| Parp10 |
A |
T |
15: 76,127,281 (GRCm39) |
I52N |
probably benign |
Het |
| Pdgfrb |
C |
A |
18: 61,206,315 (GRCm39) |
R608S |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,590,634 (GRCm39) |
C47R |
probably damaging |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,392,801 (GRCm39) |
E1712G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,757,943 (GRCm39) |
I1958T |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,069,092 (GRCm39) |
R1073Q |
probably benign |
Het |
| Pld5 |
A |
C |
1: 176,102,433 (GRCm39) |
I3S |
probably benign |
Het |
| Polr2m |
T |
G |
9: 71,391,050 (GRCm39) |
I51L |
possibly damaging |
Het |
| Ppl |
G |
A |
16: 4,922,790 (GRCm39) |
R234C |
probably damaging |
Het |
| Ppp1r42 |
C |
T |
1: 10,069,636 (GRCm39) |
R142H |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,224 (GRCm39) |
V387A |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,108 (GRCm39) |
Y320* |
probably null |
Het |
| Ptprk |
A |
T |
10: 28,436,050 (GRCm39) |
M804L |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,710,823 (GRCm39) |
S147G |
probably benign |
Het |
| Rgs7bp |
T |
C |
13: 105,189,532 (GRCm39) |
H89R |
possibly damaging |
Het |
| Rilpl2 |
G |
T |
5: 124,607,875 (GRCm39) |
T115K |
possibly damaging |
Het |
| Rnf212 |
G |
A |
5: 108,877,334 (GRCm39) |
S153F |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,455 (GRCm39) |
D705G |
possibly damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,611,426 (GRCm39) |
N379S |
probably benign |
Het |
| Sema3e |
G |
A |
5: 14,276,654 (GRCm39) |
V312M |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,985,566 (GRCm39) |
L338Q |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,384,402 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
G |
T |
18: 76,948,113 (GRCm39) |
G612C |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,449,636 (GRCm39) |
Y24C |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,688,053 (GRCm39) |
Y312* |
probably null |
Het |
| Slc5a7 |
A |
T |
17: 54,583,827 (GRCm39) |
F488I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,053,527 (GRCm39) |
D130G |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,194,652 (GRCm39) |
|
probably benign |
Het |
| Tmem91 |
T |
G |
7: 25,368,803 (GRCm39) |
T161P |
probably damaging |
Het |
| Tpd52l1 |
G |
A |
10: 31,222,697 (GRCm39) |
T99M |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,524,073 (GRCm39) |
*1036Q |
probably null |
Het |
| Tshr |
A |
T |
12: 91,504,564 (GRCm39) |
T501S |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,721,987 (GRCm39) |
N15S |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,608,127 (GRCm39) |
S669P |
possibly damaging |
Het |
| Zfp970 |
A |
G |
2: 177,167,146 (GRCm39) |
E240G |
probably damaging |
Het |
|
| Other mutations in Polr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Polr1a
|
APN |
6 |
71,925,470 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01834:Polr1a
|
APN |
6 |
71,925,446 (GRCm39) |
missense |
probably benign |
|
|
IGL01902:Polr1a
|
APN |
6 |
71,940,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02101:Polr1a
|
APN |
6 |
71,927,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02325:Polr1a
|
APN |
6 |
71,897,641 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02398:Polr1a
|
APN |
6 |
71,913,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02528:Polr1a
|
APN |
6 |
71,941,701 (GRCm39) |
missense |
probably benign |
|
|
IGL02555:Polr1a
|
APN |
6 |
71,897,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02613:Polr1a
|
APN |
6 |
71,944,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02693:Polr1a
|
APN |
6 |
71,940,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL02892:Polr1a
|
APN |
6 |
71,908,680 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03059:Polr1a
|
APN |
6 |
71,913,496 (GRCm39) |
missense |
probably benign |
|
|
IGL03174:Polr1a
|
APN |
6 |
71,954,331 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
D4043:Polr1a
|
UTSW |
6 |
71,918,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0092:Polr1a
|
UTSW |
6 |
71,944,439 (GRCm39) |
splice site |
probably benign |
|
|
R0217:Polr1a
|
UTSW |
6 |
71,940,687 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0267:Polr1a
|
UTSW |
6 |
71,951,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0329:Polr1a
|
UTSW |
6 |
71,943,400 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0330:Polr1a
|
UTSW |
6 |
71,943,400 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0352:Polr1a
|
UTSW |
6 |
71,897,747 (GRCm39) |
splice site |
probably benign |
|
|
R0411:Polr1a
|
UTSW |
6 |
71,955,405 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0446:Polr1a
|
UTSW |
6 |
71,927,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0846:Polr1a
|
UTSW |
6 |
71,901,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Polr1a
|
UTSW |
6 |
71,944,900 (GRCm39) |
missense |
probably benign |
|
|
R1294:Polr1a
|
UTSW |
6 |
71,889,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1460:Polr1a
|
UTSW |
6 |
71,918,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1657:Polr1a
|
UTSW |
6 |
71,918,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Polr1a
|
UTSW |
6 |
71,953,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1862:Polr1a
|
UTSW |
6 |
71,886,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1865:Polr1a
|
UTSW |
6 |
71,943,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Polr1a
|
UTSW |
6 |
71,944,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1937:Polr1a
|
UTSW |
6 |
71,913,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2063:Polr1a
|
UTSW |
6 |
71,913,269 (GRCm39) |
splice site |
probably null |
|
|
R2071:Polr1a
|
UTSW |
6 |
71,953,058 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2084:Polr1a
|
UTSW |
6 |
71,927,793 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2377:Polr1a
|
UTSW |
6 |
71,949,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2410:Polr1a
|
UTSW |
6 |
71,951,866 (GRCm39) |
missense |
probably benign |
|
|
R3001:Polr1a
|
UTSW |
6 |
71,890,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3001:Polr1a
|
UTSW |
6 |
71,942,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,942,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,890,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3924:Polr1a
|
UTSW |
6 |
71,906,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4105:Polr1a
|
UTSW |
6 |
71,953,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4125:Polr1a
|
UTSW |
6 |
71,942,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4271:Polr1a
|
UTSW |
6 |
71,930,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4440:Polr1a
|
UTSW |
6 |
71,927,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Polr1a
|
UTSW |
6 |
71,894,805 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4769:Polr1a
|
UTSW |
6 |
71,927,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4801:Polr1a
|
UTSW |
6 |
71,953,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4802:Polr1a
|
UTSW |
6 |
71,953,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Polr1a
|
UTSW |
6 |
71,886,213 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5071:Polr1a
|
UTSW |
6 |
71,908,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5165:Polr1a
|
UTSW |
6 |
71,944,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Polr1a
|
UTSW |
6 |
71,944,891 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5239:Polr1a
|
UTSW |
6 |
71,890,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Polr1a
|
UTSW |
6 |
71,906,350 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5599:Polr1a
|
UTSW |
6 |
71,944,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5696:Polr1a
|
UTSW |
6 |
71,906,410 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5850:Polr1a
|
UTSW |
6 |
71,903,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6274:Polr1a
|
UTSW |
6 |
71,931,874 (GRCm39) |
splice site |
probably null |
|
|
R6526:Polr1a
|
UTSW |
6 |
71,906,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6578:Polr1a
|
UTSW |
6 |
71,953,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6660:Polr1a
|
UTSW |
6 |
71,944,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6892:Polr1a
|
UTSW |
6 |
71,941,696 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7274:Polr1a
|
UTSW |
6 |
71,897,500 (GRCm39) |
nonsense |
probably null |
|
|
R7291:Polr1a
|
UTSW |
6 |
71,918,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7311:Polr1a
|
UTSW |
6 |
71,927,863 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7431:Polr1a
|
UTSW |
6 |
71,903,643 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7479:Polr1a
|
UTSW |
6 |
71,913,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Polr1a
|
UTSW |
6 |
71,890,005 (GRCm39) |
missense |
probably benign |
|
|
R7739:Polr1a
|
UTSW |
6 |
71,931,819 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7746:Polr1a
|
UTSW |
6 |
71,918,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Polr1a
|
UTSW |
6 |
71,930,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Polr1a
|
UTSW |
6 |
71,892,126 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8029:Polr1a
|
UTSW |
6 |
71,889,940 (GRCm39) |
nonsense |
probably null |
|
|
R8057:Polr1a
|
UTSW |
6 |
71,908,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8144:Polr1a
|
UTSW |
6 |
71,927,600 (GRCm39) |
missense |
probably benign |
|
|
R8170:Polr1a
|
UTSW |
6 |
71,897,733 (GRCm39) |
missense |
probably benign |
|
|
R8320:Polr1a
|
UTSW |
6 |
71,918,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8328:Polr1a
|
UTSW |
6 |
71,897,718 (GRCm39) |
missense |
probably benign |
|
|
R8331:Polr1a
|
UTSW |
6 |
71,953,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Polr1a
|
UTSW |
6 |
71,941,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8511:Polr1a
|
UTSW |
6 |
71,897,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8709:Polr1a
|
UTSW |
6 |
71,951,832 (GRCm39) |
missense |
probably benign |
|
|
R8745:Polr1a
|
UTSW |
6 |
71,931,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Polr1a
|
UTSW |
6 |
71,927,612 (GRCm39) |
missense |
probably benign |
|
|
R9055:Polr1a
|
UTSW |
6 |
71,892,053 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9088:Polr1a
|
UTSW |
6 |
71,908,767 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9211:Polr1a
|
UTSW |
6 |
71,943,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Polr1a
|
UTSW |
6 |
71,931,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Polr1a
|
UTSW |
6 |
71,940,661 (GRCm39) |
nonsense |
probably null |
|
|
R9267:Polr1a
|
UTSW |
6 |
71,942,542 (GRCm39) |
missense |
probably benign |
|
|
R9302:Polr1a
|
UTSW |
6 |
71,901,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9744:Polr1a
|
UTSW |
6 |
71,906,372 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAACTACTGCTCAGAGGGCC -3'
(R):5'- AAGATGAGTCCTTGCCCAGG -3'
Sequencing Primer
(F):5'- CTCAGAGGGCCTTTGTCACTG -3'
(R):5'- CTTGCCCAGGAATATTAGAGCAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation