Incidental Mutation 'R5071:Polr1a'
ID |
388765 |
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 |
042661-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5071 (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 71908693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 506
(N506S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
AlphaFold |
O35134 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055296
AA Change: N506S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: N506S
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: ENSMUST00000205333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206823
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
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: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
T |
15: 64,659,207 (GRCm39) |
W528R |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,071,665 (GRCm39) |
E329G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,975,227 (GRCm39) |
I334N |
probably benign |
Het |
Aldh1b1 |
A |
G |
4: 45,803,383 (GRCm39) |
|
probably null |
Het |
Armc9 |
G |
A |
1: 86,113,838 (GRCm39) |
M298I |
probably benign |
Het |
Atp8a1 |
T |
A |
5: 67,973,066 (GRCm39) |
K27N |
probably benign |
Het |
BC004004 |
G |
A |
17: 29,513,389 (GRCm39) |
|
probably null |
Het |
Ccdc83 |
A |
T |
7: 89,899,737 (GRCm39) |
F45Y |
probably damaging |
Het |
Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh17 |
G |
T |
4: 11,810,325 (GRCm39) |
G672V |
probably damaging |
Het |
Cdh5 |
C |
A |
8: 104,867,334 (GRCm39) |
T537K |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,982,667 (GRCm39) |
S1377R |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,079,437 (GRCm39) |
N1821S |
probably benign |
Het |
Cnot3 |
A |
G |
7: 3,653,860 (GRCm39) |
K4R |
probably damaging |
Het |
Colq |
T |
A |
14: 31,250,789 (GRCm39) |
I339F |
possibly damaging |
Het |
Coq2 |
A |
T |
5: 100,815,816 (GRCm39) |
L121Q |
probably damaging |
Het |
Csnk1e |
G |
A |
15: 79,305,072 (GRCm39) |
R342* |
probably null |
Het |
Cstl1 |
A |
T |
2: 148,592,847 (GRCm39) |
M1L |
probably benign |
Het |
Cwh43 |
A |
G |
5: 73,581,256 (GRCm39) |
|
probably null |
Het |
Cyp2a22 |
A |
T |
7: 26,631,906 (GRCm39) |
F450Y |
probably benign |
Het |
Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
Cyp4a29 |
A |
G |
4: 115,104,860 (GRCm39) |
T123A |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,841,972 (GRCm39) |
K417E |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,046,188 (GRCm39) |
L1750* |
probably null |
Het |
Edn1 |
A |
G |
13: 42,457,153 (GRCm39) |
E62G |
probably damaging |
Het |
Eef1akmt1 |
A |
G |
14: 57,803,464 (GRCm39) |
L30P |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,926,256 (GRCm39) |
W313R |
probably damaging |
Het |
Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
Fitm1 |
T |
A |
14: 55,813,230 (GRCm39) |
V31E |
possibly damaging |
Het |
Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
Gabrd |
A |
C |
4: 155,471,619 (GRCm39) |
F228C |
probably damaging |
Het |
Gm5916 |
A |
C |
9: 36,039,964 (GRCm39) |
L8R |
probably benign |
Het |
Gpr108 |
A |
G |
17: 57,542,335 (GRCm39) |
S557P |
probably damaging |
Het |
Gpr75 |
C |
A |
11: 30,842,380 (GRCm39) |
N428K |
probably damaging |
Het |
H2-M5 |
T |
G |
17: 37,298,076 (GRCm39) |
|
probably null |
Het |
Hdac6 |
A |
G |
X: 7,811,036 (GRCm39) |
F104L |
probably damaging |
Homo |
Homer3 |
T |
C |
8: 70,744,005 (GRCm39) |
V243A |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,267,541 (GRCm39) |
S2050P |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,265,105 (GRCm39) |
N2763D |
probably benign |
Het |
Ifi203 |
T |
C |
1: 173,762,676 (GRCm39) |
Q152R |
possibly damaging |
Het |
Ifi44 |
T |
C |
3: 151,455,269 (GRCm39) |
|
probably benign |
Het |
Ifi47 |
A |
G |
11: 48,986,361 (GRCm39) |
T43A |
probably benign |
Het |
Ighv1-24 |
A |
G |
12: 114,736,748 (GRCm39) |
Y51H |
probably benign |
Het |
Inf2 |
A |
T |
12: 112,578,473 (GRCm39) |
|
probably null |
Het |
Insl6 |
T |
C |
19: 29,302,655 (GRCm39) |
R21G |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,851 (GRCm39) |
C1043R |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,438,545 (GRCm39) |
M1K |
probably null |
Het |
Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
Muc21 |
G |
A |
17: 35,931,444 (GRCm39) |
|
probably benign |
Het |
Ncald |
A |
T |
15: 37,397,478 (GRCm39) |
H67Q |
probably damaging |
Het |
Nek9 |
C |
A |
12: 85,374,233 (GRCm39) |
R268L |
possibly damaging |
Het |
Nudt5 |
T |
A |
2: 5,869,198 (GRCm39) |
H141Q |
probably benign |
Het |
Numbl |
G |
A |
7: 26,980,415 (GRCm39) |
D466N |
probably damaging |
Het |
Or14c46 |
A |
G |
7: 85,918,799 (GRCm39) |
I66T |
probably damaging |
Het |
Or2l5 |
A |
G |
16: 19,333,777 (GRCm39) |
I203T |
probably benign |
Het |
Or4c100 |
T |
C |
2: 88,356,385 (GRCm39) |
S153P |
probably damaging |
Het |
Or51l14 |
A |
T |
7: 103,100,617 (GRCm39) |
E24D |
probably benign |
Het |
Or52n2c |
A |
C |
7: 104,574,700 (GRCm39) |
N90K |
probably benign |
Het |
Or6x1 |
T |
C |
9: 40,098,960 (GRCm39) |
L183S |
probably damaging |
Het |
Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
Plagl1 |
A |
G |
10: 13,003,005 (GRCm39) |
Y91C |
probably damaging |
Het |
Pomt2 |
A |
C |
12: 87,180,234 (GRCm39) |
C256G |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,945,763 (GRCm39) |
D444E |
probably damaging |
Het |
Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
Ptprf |
C |
A |
4: 118,069,196 (GRCm39) |
G1624W |
probably damaging |
Het |
Rbm38 |
C |
T |
2: 172,863,875 (GRCm39) |
P15S |
probably benign |
Het |
Rc3h1 |
A |
G |
1: 160,787,047 (GRCm39) |
D814G |
possibly damaging |
Het |
Rnf40 |
T |
C |
7: 127,196,458 (GRCm39) |
L802P |
probably damaging |
Het |
Rusc2 |
A |
G |
4: 43,415,240 (GRCm39) |
D182G |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,298,977 (GRCm39) |
|
probably benign |
Het |
Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,884,508 (GRCm39) |
L626P |
possibly damaging |
Het |
Slirp |
A |
G |
12: 87,490,784 (GRCm39) |
T29A |
probably damaging |
Het |
Smarcc2 |
A |
G |
10: 128,299,809 (GRCm39) |
D158G |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,063,854 (GRCm39) |
|
probably null |
Het |
St3gal5 |
T |
C |
6: 72,109,037 (GRCm39) |
C42R |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,420,792 (GRCm39) |
S397P |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,959,208 (GRCm39) |
T1114S |
probably damaging |
Het |
Thada |
T |
A |
17: 84,693,960 (GRCm39) |
D1263V |
probably damaging |
Het |
Tmco3 |
G |
T |
8: 13,342,860 (GRCm39) |
E199* |
probably null |
Het |
Tpcn1 |
A |
T |
5: 120,686,334 (GRCm39) |
|
probably null |
Het |
Tppp2 |
G |
A |
14: 52,157,912 (GRCm39) |
R119Q |
probably benign |
Het |
Trim30d |
A |
C |
7: 104,137,165 (GRCm39) |
V13G |
probably damaging |
Het |
Ubxn2b |
A |
T |
4: 6,214,746 (GRCm39) |
Q260L |
probably damaging |
Het |
Ufl1 |
A |
G |
4: 25,254,780 (GRCm39) |
Y559H |
probably benign |
Het |
Usp5 |
A |
G |
6: 124,803,342 (GRCm39) |
F7L |
probably benign |
Het |
Utrn |
A |
T |
10: 12,259,948 (GRCm39) |
|
probably null |
Het |
Vmn1r28 |
A |
T |
6: 58,242,894 (GRCm39) |
I246F |
probably benign |
Het |
Vmn2r2 |
C |
A |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,325,941 (GRCm39) |
H365R |
probably benign |
Het |
Zfp976 |
A |
T |
7: 42,262,354 (GRCm39) |
Y494* |
probably null |
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 |
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 |
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'- GAAACCAGGCAGCTCATTTTG -3'
(R):5'- TGATTAGCCCTGCTCAGAGG -3'
Sequencing Primer
(F):5'- AACCAGGCAGCTCATTTTGTTAGC -3'
(R):5'- TGCTCAGAGGCAGCAAGTTG -3'
|
Posted On |
2016-06-06 |