Incidental Mutation 'R0092:Polr1a'
| ID |
20276 |
| 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 |
038379-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 71944439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
|
| AlphaFold |
O35134 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
| 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 |
probably benign
Transcript: ENSMUST00000205517
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
99% (112/113) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,662,762 (GRCm39) |
S535T |
probably benign |
Het |
| Acad11 |
A |
T |
9: 103,967,540 (GRCm39) |
|
probably benign |
Het |
| Acadm |
A |
T |
3: 153,647,512 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,889,684 (GRCm39) |
M12K |
probably damaging |
Het |
| Actr2 |
A |
T |
11: 20,044,308 (GRCm39) |
N99K |
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,291,336 (GRCm39) |
A314V |
probably damaging |
Het |
| Agl |
C |
T |
3: 116,587,453 (GRCm39) |
R34Q |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,410 (GRCm39) |
R338H |
probably damaging |
Het |
| AI661453 |
A |
G |
17: 47,778,440 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,301 (GRCm39) |
D706G |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,208,361 (GRCm39) |
E648G |
probably damaging |
Het |
| Astn2 |
C |
A |
4: 66,322,219 (GRCm39) |
A127S |
unknown |
Het |
| Asxl2 |
T |
C |
12: 3,546,313 (GRCm39) |
S366P |
probably benign |
Het |
| Bdh1 |
A |
T |
16: 31,266,380 (GRCm39) |
K92* |
probably null |
Het |
| Bltp1 |
A |
G |
3: 37,082,308 (GRCm39) |
D3790G |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,348,090 (GRCm39) |
S666N |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,563,144 (GRCm39) |
T361A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,890,513 (GRCm39) |
E1927V |
probably benign |
Het |
| Ctnnb1 |
T |
G |
9: 120,781,929 (GRCm39) |
I314S |
possibly damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,224 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,699,844 (GRCm39) |
F232I |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,499,013 (GRCm39) |
N950S |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,914,078 (GRCm39) |
N14S |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,100,146 (GRCm39) |
V1004D |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 30,993,566 (GRCm39) |
S2872A |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,156,026 (GRCm39) |
V233A |
probably damaging |
Het |
| E230025N22Rik |
A |
G |
18: 36,822,277 (GRCm39) |
L162P |
probably damaging |
Het |
| Elmod3 |
T |
C |
6: 72,543,792 (GRCm39) |
D333G |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,593,745 (GRCm39) |
M846K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,497,217 (GRCm39) |
Y1766H |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
A |
G |
14: 55,915,402 (GRCm39) |
R258G |
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,713 (GRCm39) |
Y888C |
probably damaging |
Het |
| Hephl1 |
TTCCAGATGTCC |
TTCC |
9: 15,001,899 (GRCm39) |
|
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,720,164 (GRCm39) |
D482G |
probably damaging |
Het |
| Itgb4 |
G |
T |
11: 115,869,950 (GRCm39) |
R44L |
probably damaging |
Het |
| Itih1 |
T |
C |
14: 30,662,820 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
A |
5: 75,808,414 (GRCm39) |
S719R |
possibly damaging |
Het |
| Krt13 |
G |
A |
11: 100,012,258 (GRCm39) |
Q22* |
probably null |
Het |
| L3mbtl4 |
A |
C |
17: 68,732,698 (GRCm39) |
R59S |
probably benign |
Het |
| Lpp |
A |
G |
16: 24,580,352 (GRCm39) |
S23G |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,958,280 (GRCm39) |
Q602* |
probably null |
Het |
| Man2a1 |
A |
G |
17: 64,966,079 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,372,367 (GRCm39) |
E2667G |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,633 (GRCm39) |
C134Y |
possibly damaging |
Het |
| Myo15b |
C |
G |
11: 115,753,812 (GRCm39) |
S842C |
possibly damaging |
Het |
| Naf1 |
T |
A |
8: 67,341,760 (GRCm39) |
S462T |
probably benign |
Het |
| Necab3 |
T |
C |
2: 154,400,659 (GRCm39) |
D34G |
possibly damaging |
Het |
| Nisch |
C |
A |
14: 30,913,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,216,222 (GRCm39) |
|
probably benign |
Het |
| Nmt1 |
T |
C |
11: 102,937,319 (GRCm39) |
F119L |
probably damaging |
Het |
| Nod1 |
T |
G |
6: 54,921,526 (GRCm39) |
D264A |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Nt5e |
T |
A |
9: 88,252,338 (GRCm39) |
F567I |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,942,073 (GRCm39) |
M4434K |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,444,412 (GRCm39) |
D866V |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,031 (GRCm39) |
V145A |
probably benign |
Het |
| Or10al3 |
T |
G |
17: 38,011,696 (GRCm39) |
L45R |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,444,090 (GRCm39) |
S87P |
probably damaging |
Het |
| Or1j21 |
A |
G |
2: 36,683,508 (GRCm39) |
T87A |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,586,934 (GRCm39) |
S116P |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,174 (GRCm39) |
V311E |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,642,944 (GRCm39) |
D407G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,149 (GRCm39) |
W23R |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,166,321 (GRCm39) |
V129A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,629 (GRCm39) |
R483G |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,047,309 (GRCm39) |
V225A |
probably benign |
Het |
| Plcl1 |
C |
G |
1: 55,735,924 (GRCm39) |
Q422E |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,943 (GRCm39) |
E1222G |
probably benign |
Het |
| Prokr2 |
C |
T |
2: 132,215,517 (GRCm39) |
V154M |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,844,557 (GRCm39) |
R280G |
possibly damaging |
Het |
| Rmnd5b |
T |
C |
11: 51,520,419 (GRCm39) |
E8G |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 109,920,013 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,408,830 (GRCm39) |
M172V |
probably benign |
Het |
| Setx |
T |
C |
2: 29,036,305 (GRCm39) |
V930A |
probably benign |
Het |
| Sft2d2 |
G |
A |
1: 165,006,829 (GRCm39) |
A159V |
possibly damaging |
Het |
| Sh3gl1 |
G |
T |
17: 56,325,088 (GRCm39) |
R250S |
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,053,277 (GRCm39) |
D231Y |
probably damaging |
Het |
| Slc24a1 |
T |
G |
9: 64,856,034 (GRCm39) |
E291A |
unknown |
Het |
| Slc28a2b |
G |
T |
2: 122,348,078 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,951,925 (GRCm39) |
|
probably benign |
Het |
| Tbccd1 |
A |
T |
16: 22,644,844 (GRCm39) |
N177K |
possibly damaging |
Het |
| Tdp1 |
T |
A |
12: 99,921,248 (GRCm39) |
Y595N |
probably damaging |
Het |
| Tle5 |
G |
A |
10: 81,397,054 (GRCm39) |
G10D |
possibly damaging |
Het |
| Tmem108 |
T |
C |
9: 103,366,504 (GRCm39) |
K496E |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,487,959 (GRCm39) |
D490G |
probably damaging |
Het |
| Tnrc6b |
A |
T |
15: 80,802,729 (GRCm39) |
N1511Y |
probably damaging |
Het |
| Top2b |
G |
A |
14: 16,409,263 (GRCm38) |
R802Q |
probably damaging |
Het |
| Trip10 |
A |
T |
17: 57,557,798 (GRCm39) |
K27N |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,503 (GRCm39) |
N445D |
possibly damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,715,636 (GRCm39) |
I159N |
probably damaging |
Het |
| Ulk1 |
C |
A |
5: 110,944,193 (GRCm39) |
A164S |
probably null |
Het |
| Vmn2r83 |
T |
C |
10: 79,327,798 (GRCm39) |
V802A |
probably damaging |
Het |
| Zbtb4 |
A |
G |
11: 69,670,177 (GRCm39) |
I967V |
probably benign |
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 |
|
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 |
|
R4828:Polr1a
|
UTSW |
6 |
71,943,385 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- GTAACTGCACATGAGGAGCTGGTC -3'
(R):5'- AGCATTCTTACCGCATTCTCCAGG -3'
Sequencing Primer
(F):5'- GGTAGGGCATATTCCTCTGTCATAC -3'
(R):5'- TTCTCCAGGCAAATGCTAGG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation