Incidental Mutation 'R4667:Polr1a'
| ID |
352026 |
| 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 |
042012-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4667 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71894805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 171
(N171S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
| AlphaFold |
O35134 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
AA Change: N171S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: N171S
| 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: ENSMUST00000205842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
AA Change: N171S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
A |
G |
9: 26,901,923 (GRCm39) |
L147P |
probably damaging |
Het |
| Adgra3 |
T |
A |
5: 50,136,298 (GRCm39) |
Y729F |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 73,018,265 (GRCm39) |
Y58H |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,378,842 (GRCm39) |
T2128A |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,781,074 (GRCm39) |
P2042Q |
possibly damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,845,387 (GRCm39) |
K155R |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,138,345 (GRCm39) |
F1209L |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,617,335 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,906,875 (GRCm39) |
L656S |
probably damaging |
Het |
| Bnip5 |
G |
T |
17: 29,127,287 (GRCm39) |
Q241K |
possibly damaging |
Het |
| Btbd17 |
A |
G |
11: 114,684,683 (GRCm39) |
F119L |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,751,646 (GRCm39) |
K267N |
probably damaging |
Het |
| Cd200l1 |
A |
G |
16: 45,264,526 (GRCm39) |
S11P |
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,719,952 (GRCm39) |
Y495H |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,726,339 (GRCm39) |
I47V |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,774,715 (GRCm39) |
R119H |
probably benign |
Het |
| Cemip2 |
C |
T |
19: 21,822,145 (GRCm39) |
A1180V |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,428 (GRCm39) |
S2058P |
possibly damaging |
Het |
| Clcn6 |
T |
C |
4: 148,108,624 (GRCm39) |
E135G |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,192,960 (GRCm39) |
N687K |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,512,412 (GRCm39) |
M99L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,391,235 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,970,170 (GRCm39) |
T134A |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,665,001 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,165,100 (GRCm39) |
D360E |
probably damaging |
Het |
| Dhx8 |
A |
G |
11: 101,628,987 (GRCm39) |
S179G |
unknown |
Het |
| Dip2b |
A |
G |
15: 100,049,241 (GRCm39) |
I212V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 66,046,357 (GRCm39) |
H64Y |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,183,474 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
G |
10: 34,029,008 (GRCm39) |
Y694S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,051,411 (GRCm39) |
I3175V |
probably benign |
Het |
| Elf5 |
A |
G |
2: 103,279,405 (GRCm39) |
N209D |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,984 (GRCm39) |
Y40C |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,885,150 (GRCm39) |
E216G |
possibly damaging |
Het |
| F5 |
G |
A |
1: 164,001,755 (GRCm39) |
V153I |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,842,413 (GRCm39) |
T1277I |
possibly damaging |
Het |
| Fam90a1a |
A |
T |
8: 22,453,362 (GRCm39) |
H239L |
possibly damaging |
Het |
| Fchsd2 |
G |
T |
7: 100,899,656 (GRCm39) |
R334L |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,288 (GRCm39) |
Y369C |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,199,395 (GRCm39) |
P689S |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,350,216 (GRCm39) |
Q332K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,390,049 (GRCm39) |
S1767P |
probably damaging |
Het |
| Ggt5 |
T |
C |
10: 75,438,865 (GRCm39) |
L121P |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,501,591 (GRCm39) |
S119P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,781,001 (GRCm39) |
D1222G |
probably damaging |
Het |
| Hmx3 |
T |
C |
7: 131,146,111 (GRCm39) |
I273T |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,159,746 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,266,956 (GRCm39) |
T1987I |
possibly damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,710,071 (GRCm39) |
Q58L |
probably damaging |
Het |
| Ighv14-3 |
T |
A |
12: 114,023,875 (GRCm39) |
I7F |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,141,784 (GRCm39) |
R305L |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,400,949 (GRCm39) |
A699V |
possibly damaging |
Het |
| Kif22 |
A |
C |
7: 126,632,500 (GRCm39) |
L270W |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,319,642 (GRCm39) |
H1960Q |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,071,394 (GRCm39) |
Q94* |
probably null |
Het |
| Mcoln3 |
A |
T |
3: 145,836,959 (GRCm39) |
I264F |
probably benign |
Het |
| Mdn1 |
A |
C |
4: 32,679,572 (GRCm39) |
T706P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,917,636 (GRCm39) |
C137R |
probably benign |
Het |
| Mmp25 |
A |
G |
17: 23,863,581 (GRCm39) |
V83A |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,799,491 (GRCm39) |
Y242H |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,234 (GRCm39) |
S330P |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,235,070 (GRCm39) |
S1156P |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
| Mybbp1a |
G |
A |
11: 72,338,797 (GRCm39) |
E775K |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,793,239 (GRCm39) |
E1272G |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,638,302 (GRCm39) |
S254P |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,161,481 (GRCm39) |
I211T |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,566,786 (GRCm39) |
W582R |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,905,553 (GRCm39) |
D58V |
possibly damaging |
Het |
| Nr3c1 |
G |
T |
18: 39,561,780 (GRCm39) |
T430K |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,833,801 (GRCm39) |
T111A |
probably benign |
Het |
| Ogdh |
G |
T |
11: 6,290,600 (GRCm39) |
C406F |
probably benign |
Het |
| Olfml2a |
T |
G |
2: 38,839,022 (GRCm39) |
S190A |
probably damaging |
Het |
| Optn |
T |
C |
2: 5,037,950 (GRCm39) |
K415E |
probably benign |
Het |
| Or10n1 |
T |
C |
9: 39,525,034 (GRCm39) |
M57T |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,365,845 (GRCm39) |
T15A |
probably benign |
Het |
| Or8b12i |
T |
C |
9: 20,082,394 (GRCm39) |
I158V |
probably benign |
Het |
| Or8g52 |
G |
T |
9: 39,631,005 (GRCm39) |
V161F |
probably benign |
Het |
| Pakap |
A |
T |
4: 57,855,655 (GRCm39) |
D328V |
possibly damaging |
Het |
| Perm1 |
C |
A |
4: 156,304,663 (GRCm39) |
S803* |
probably null |
Het |
| Pex14 |
T |
C |
4: 149,068,542 (GRCm39) |
T84A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,532,252 (GRCm39) |
Y103* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,289,432 (GRCm39) |
C1235S |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,081,616 (GRCm39) |
S201P |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,836,493 (GRCm39) |
N151K |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,800,025 (GRCm39) |
T72S |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,407,913 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,180,209 (GRCm39) |
R1063G |
possibly damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,000,520 (GRCm39) |
T166A |
probably benign |
Het |
| Slc5a4b |
T |
C |
10: 75,910,879 (GRCm39) |
Y319C |
possibly damaging |
Het |
| Stard3nl |
T |
A |
13: 19,560,689 (GRCm39) |
N29Y |
probably damaging |
Het |
| Sult6b2 |
G |
T |
6: 142,747,421 (GRCm39) |
C109* |
probably null |
Het |
| Tcf25 |
A |
G |
8: 124,123,764 (GRCm39) |
E467G |
possibly damaging |
Het |
| Tmem177 |
A |
T |
1: 119,837,950 (GRCm39) |
V243D |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,920,678 (GRCm39) |
C208* |
probably null |
Het |
| Ttc1 |
A |
G |
11: 43,636,144 (GRCm39) |
V33A |
probably benign |
Het |
| Tut4 |
G |
A |
4: 108,352,356 (GRCm39) |
E357K |
probably damaging |
Het |
| Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,573,797 (GRCm39) |
V1091G |
probably benign |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,483 (GRCm39) |
H49L |
probably damaging |
Het |
| Vmn1r160 |
G |
T |
7: 22,571,478 (GRCm39) |
S277I |
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,069 (GRCm39) |
S162T |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,148,795 (GRCm39) |
L80P |
probably damaging |
Het |
| Wfdc3 |
T |
C |
2: 164,585,006 (GRCm39) |
M1V |
probably null |
Het |
| Wrn |
A |
T |
8: 33,814,366 (GRCm39) |
N116K |
probably benign |
Het |
| Wscd2 |
G |
T |
5: 113,715,333 (GRCm39) |
G391V |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,671,428 (GRCm39) |
V215A |
probably benign |
Het |
| Zfp568 |
A |
G |
7: 29,722,702 (GRCm39) |
H549R |
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 |
|
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'- GATTGATCTCCGTCCTTGAAAAG -3'
(R):5'- GCCATCTAACCCTCTAGTCAGC -3'
Sequencing Primer
(F):5'- TTGAAAAGGCCAGTCCCAG -3'
(R):5'- CCGCTATAGCCATGAAGGTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation