Incidental Mutation 'R1460:Polr1a'
| ID |
162057 |
| 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 |
039515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1460 (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 71918368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 642
(M642T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
| AlphaFold |
O35134 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055296
AA Change: M642T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: M642T
| 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: ENSMUST00000205942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Meta Mutation Damage Score |
0.6798 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.1%
|
| Validation Efficiency |
94% (93/99) |
| 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 |
|---|
| 4930522H14Rik |
A |
T |
4: 109,388,407 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
A |
G |
2: 69,087,718 (GRCm39) |
|
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,382,780 (GRCm39) |
V130A |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,084,009 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
A |
G |
5: 129,199,627 (GRCm39) |
T155A |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,513,103 (GRCm39) |
S631T |
probably damaging |
Het |
| Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,680,325 (GRCm39) |
A384T |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,924,824 (GRCm39) |
I303N |
probably damaging |
Het |
| B3gntl1 |
T |
G |
11: 121,530,624 (GRCm39) |
Y149S |
probably damaging |
Het |
| Btnl2 |
A |
G |
17: 34,585,424 (GRCm39) |
D475G |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,009,092 (GRCm39) |
S529T |
possibly damaging |
Het |
| Cenpt |
A |
G |
8: 106,575,520 (GRCm39) |
L194P |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,625,934 (GRCm39) |
I788F |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,534,515 (GRCm39) |
D177G |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cish |
G |
T |
9: 107,177,596 (GRCm39) |
E91* |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,780 (GRCm39) |
D740G |
unknown |
Het |
| Cplane2 |
T |
C |
4: 140,945,523 (GRCm39) |
F125L |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,756,551 (GRCm39) |
Q1025* |
probably null |
Het |
| Ctrc |
C |
A |
4: 141,566,120 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
T |
A |
7: 107,356,450 (GRCm39) |
D7V |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,101,744 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
C |
1: 153,341,426 (GRCm39) |
D607E |
probably benign |
Het |
| Dnajb7 |
C |
T |
15: 81,291,888 (GRCm39) |
G150R |
probably benign |
Het |
| Dnase1l3 |
T |
A |
14: 7,974,050 (GRCm38) |
T214S |
probably benign |
Het |
| Dpm1 |
A |
T |
2: 168,052,549 (GRCm39) |
I229N |
probably damaging |
Het |
| Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
| Entpd1 |
T |
C |
19: 40,714,632 (GRCm39) |
V247A |
probably damaging |
Het |
| Ephb3 |
C |
A |
16: 21,037,672 (GRCm39) |
H277Q |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,793,288 (GRCm39) |
N671I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fancd2os |
G |
A |
6: 113,574,973 (GRCm39) |
T11I |
probably damaging |
Het |
| Fcrlb |
G |
T |
1: 170,739,853 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,638,183 (GRCm39) |
I39V |
probably damaging |
Het |
| Gm9991 |
T |
C |
1: 90,606,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gstk1 |
C |
T |
6: 42,223,529 (GRCm39) |
R40W |
probably damaging |
Het |
| Gstt1 |
C |
T |
10: 75,620,004 (GRCm39) |
V190M |
probably damaging |
Het |
| Hectd2 |
G |
A |
19: 36,592,908 (GRCm39) |
W691* |
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,852,404 (GRCm39) |
T1572A |
probably damaging |
Het |
| Hoxa5 |
T |
C |
6: 52,180,928 (GRCm39) |
T135A |
probably benign |
Het |
| Igfl3 |
T |
A |
7: 17,913,880 (GRCm39) |
C77S |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,874,990 (GRCm39) |
D449G |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,916,653 (GRCm39) |
V11A |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,766,447 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
G |
T |
11: 82,686,624 (GRCm39) |
|
probably benign |
Het |
| Lipo4 |
A |
C |
19: 33,476,718 (GRCm39) |
F343L |
probably benign |
Het |
| Lyn |
T |
A |
4: 3,789,908 (GRCm39) |
Y480* |
probably null |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mill1 |
C |
A |
7: 17,996,595 (GRCm39) |
A137D |
probably damaging |
Het |
| Mmut |
T |
C |
17: 41,248,266 (GRCm39) |
Y98H |
probably damaging |
Het |
| Morc2a |
A |
T |
11: 3,633,794 (GRCm39) |
R635S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,575,237 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,017,492 (GRCm39) |
|
probably benign |
Het |
| Mynn |
C |
A |
3: 30,657,853 (GRCm39) |
S57Y |
probably damaging |
Het |
| Myo3b |
G |
A |
2: 70,062,798 (GRCm39) |
E333K |
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,444,725 (GRCm39) |
I514F |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,338,082 (GRCm39) |
C708R |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,390,440 (GRCm39) |
E249G |
probably damaging |
Het |
| Npy2r |
T |
C |
3: 82,448,251 (GRCm39) |
I175V |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,946,792 (GRCm39) |
V4114D |
probably damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,504 (GRCm39) |
M164K |
possibly damaging |
Het |
| Or4a76 |
A |
G |
2: 89,460,282 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
A |
7: 104,684,915 (GRCm39) |
I170N |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,503 (GRCm39) |
M288T |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,352,921 (GRCm39) |
I196N |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,228,890 (GRCm39) |
T209M |
possibly damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,686 (GRCm39) |
M190V |
probably benign |
Het |
| Psmd7 |
G |
A |
8: 108,307,691 (GRCm39) |
S264L |
possibly damaging |
Het |
| Qrich1 |
T |
G |
9: 108,410,846 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 71,861,520 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
T |
C |
3: 94,863,636 (GRCm39) |
I95T |
probably damaging |
Het |
| Rgr |
G |
A |
14: 36,767,683 (GRCm39) |
R113C |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,645,873 (GRCm39) |
|
probably benign |
Het |
| Rps3a1 |
G |
A |
3: 86,045,369 (GRCm39) |
A241V |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,127,481 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,532,187 (GRCm39) |
T600A |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,493,751 (GRCm39) |
D339G |
possibly damaging |
Het |
| Sipa1 |
T |
A |
19: 5,701,475 (GRCm39) |
H1029L |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,539,736 (GRCm39) |
T362A |
probably benign |
Het |
| Snrnp48 |
A |
G |
13: 38,395,081 (GRCm39) |
T124A |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,088,637 (GRCm39) |
M875K |
possibly damaging |
Het |
| Supt6 |
A |
G |
11: 78,113,024 (GRCm39) |
V973A |
possibly damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,279,162 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,740 (GRCm39) |
N3015K |
possibly damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,105,841 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
A |
G |
17: 47,628,771 (GRCm39) |
|
noncoding transcript |
Het |
| Trim24 |
T |
A |
6: 37,941,761 (GRCm39) |
F904I |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,121,311 (GRCm39) |
Y328F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,698,717 (GRCm39) |
E6G |
probably damaging |
Het |
| Ube2m |
T |
C |
7: 12,769,762 (GRCm39) |
|
probably benign |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,672,639 (GRCm39) |
R91S |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,079,422 (GRCm39) |
S237R |
possibly damaging |
Het |
| Zfp735 |
A |
T |
11: 73,603,159 (GRCm39) |
H701L |
possibly damaging |
Het |
| Zp1 |
T |
C |
19: 10,896,242 (GRCm39) |
D161G |
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 |
|
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 |
|
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'- TGACAGCAGCTTGACCAAACGTAG -3'
(R):5'- AGAAGCCGTGCAACCTGTTCTTAG -3'
Sequencing Primer
(F):5'- ATGTTGAGGCCAGTAGTAACTCC -3'
(R):5'- GCAACCTGTTCTTAGTAGATACACC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation