Incidental Mutation 'R1862:Polr1a'
| ID |
204017 |
| 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 |
039885-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1862 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71886187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 14
(G14D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000082094]
[ENSMUST00000206556]
[ENSMUST00000206879]
|
| AlphaFold |
O35134 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055296
AA Change: G14D
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: G14D
| 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 |
probably benign
Transcript: ENSMUST00000082094
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
|
Pfam:PPR_2
|
253 |
300 |
1.4e-10 |
PFAM |
|
Pfam:PPR_3
|
331 |
366 |
2.1e-4 |
PFAM |
|
low complexity region
|
671 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206556
AA Change: G14D
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
A |
14: 8,241,416 (GRCm38) |
E565D |
probably benign |
Het |
| Adam30 |
A |
T |
3: 98,069,429 (GRCm39) |
K421* |
probably null |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,834 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
A |
T |
8: 85,142,559 (GRCm39) |
I96F |
possibly damaging |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Cdh8 |
T |
A |
8: 99,917,026 (GRCm39) |
D363V |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,734,902 (GRCm39) |
Y685H |
probably damaging |
Het |
| Cibar1 |
C |
T |
4: 12,155,717 (GRCm39) |
V306I |
possibly damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,468 (GRCm39) |
T178A |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,986,575 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
C |
T |
8: 11,276,439 (GRCm39) |
|
probably benign |
Het |
| Coro2a |
T |
A |
4: 46,548,797 (GRCm39) |
I166F |
possibly damaging |
Het |
| Cry2 |
T |
C |
2: 92,254,911 (GRCm39) |
H148R |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,101,133 (GRCm39) |
Y154C |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,313,372 (GRCm39) |
Y3066C |
probably damaging |
Het |
| Defb15 |
C |
T |
8: 22,420,002 (GRCm39) |
E42K |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,430,412 (GRCm39) |
Y340F |
probably benign |
Het |
| Dot1l |
G |
T |
10: 80,619,373 (GRCm39) |
R193L |
probably damaging |
Het |
| Dusp29 |
A |
G |
14: 21,736,757 (GRCm39) |
V115A |
probably benign |
Het |
| Esd |
A |
C |
14: 74,979,514 (GRCm39) |
Y119S |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
| Etfbkmt |
T |
A |
6: 149,045,649 (GRCm39) |
M1K |
probably null |
Het |
| Exph5 |
A |
G |
9: 53,287,548 (GRCm39) |
H1543R |
probably benign |
Het |
| Fbxo16 |
A |
G |
14: 65,508,252 (GRCm39) |
T23A |
probably damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,509,808 (GRCm39) |
H136Q |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,439,853 (GRCm39) |
I367F |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Ilvbl |
A |
G |
10: 78,419,958 (GRCm39) |
D592G |
probably benign |
Het |
| Inmt |
G |
A |
6: 55,151,868 (GRCm39) |
A34V |
probably damaging |
Het |
| Ints9 |
A |
C |
14: 65,263,862 (GRCm39) |
H378P |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,618,098 (GRCm39) |
I464L |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,353,068 (GRCm39) |
V259D |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,762,092 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,680,510 (GRCm39) |
|
probably null |
Het |
| Mapk1 |
T |
A |
16: 16,844,293 (GRCm39) |
S22T |
probably benign |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,217 (GRCm39) |
S181P |
possibly damaging |
Het |
| Mgat5 |
C |
T |
1: 127,387,706 (GRCm39) |
P554L |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,090 (GRCm39) |
T1315A |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,649,047 (GRCm39) |
T917M |
possibly damaging |
Het |
| Mroh3 |
T |
A |
1: 136,113,726 (GRCm39) |
I688F |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,553,874 (GRCm39) |
Y536N |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,052,199 (GRCm39) |
|
probably null |
Het |
| Noc2l |
A |
G |
4: 156,322,165 (GRCm39) |
R161G |
probably benign |
Het |
| Nup54 |
T |
A |
5: 92,567,426 (GRCm39) |
I375L |
possibly damaging |
Het |
| Nup93 |
T |
C |
8: 95,032,730 (GRCm39) |
F539L |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,197,018 (GRCm39) |
H178Q |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,235 (GRCm39) |
E191G |
probably damaging |
Het |
| Or5p57 |
A |
C |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or8b12 |
T |
A |
9: 37,658,264 (GRCm39) |
M278K |
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,918,724 (GRCm39) |
D378E |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,288,945 (GRCm39) |
V170D |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,506 (GRCm39) |
S558P |
probably damaging |
Het |
| Pde3a |
G |
T |
6: 141,433,239 (GRCm39) |
A757S |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,196,079 (GRCm39) |
I255N |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,229,578 (GRCm39) |
Y1027H |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,621,244 (GRCm39) |
R805S |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,336,420 (GRCm39) |
D60V |
probably damaging |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Ptprc |
T |
C |
1: 138,039,965 (GRCm39) |
S311G |
probably benign |
Het |
| Rapgefl1 |
G |
A |
11: 98,733,035 (GRCm39) |
R205K |
probably benign |
Het |
| Rcan2 |
A |
T |
17: 44,347,980 (GRCm39) |
|
probably null |
Het |
| Rock1 |
A |
G |
18: 10,079,207 (GRCm39) |
I1087T |
probably damaging |
Het |
| Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,061 (GRCm39) |
H145R |
possibly damaging |
Het |
| Setd1b |
T |
C |
5: 123,285,676 (GRCm39) |
S241P |
unknown |
Het |
| Slco1a8 |
T |
C |
6: 141,949,149 (GRCm39) |
M76V |
possibly damaging |
Het |
| Srpk2 |
T |
C |
5: 23,729,148 (GRCm39) |
K497R |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,467,940 (GRCm39) |
S4296P |
probably damaging |
Het |
| Syne4 |
T |
C |
7: 30,016,308 (GRCm39) |
V168A |
probably benign |
Het |
| Tank |
T |
C |
2: 61,480,256 (GRCm39) |
F264S |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,344,955 (GRCm39) |
S1607P |
probably damaging |
Het |
| Trim30a |
A |
G |
7: 104,060,405 (GRCm39) |
V457A |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,967,624 (GRCm39) |
K336N |
probably damaging |
Het |
| Trim47 |
T |
C |
11: 115,996,963 (GRCm39) |
Q598R |
probably damaging |
Het |
| Tspan12 |
T |
C |
6: 21,851,022 (GRCm39) |
N18S |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,221,607 (GRCm39) |
S231P |
probably benign |
Het |
| Vit |
A |
G |
17: 78,930,175 (GRCm39) |
D380G |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
| Vmn2r52 |
C |
T |
7: 9,907,333 (GRCm39) |
C131Y |
possibly damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,307 (GRCm39) |
F395I |
probably damaging |
Het |
| Zfp940 |
C |
A |
7: 29,544,435 (GRCm39) |
G491C |
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 |
|
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'- TCCAAGCCAATTTGCCAAGC -3'
(R):5'- ATCATCGCTTGGACCAGAGG -3'
Sequencing Primer
(F):5'- AATTTGCCAAGCCGCGGTTC -3'
(R):5'- GCAGCAAGCGCATTCCTTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation