Incidental Mutation 'R4667:Polr1a'
| ID |
352026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1a
|
| Ensembl Gene |
ENSMUSG00000049553 |
| Gene Name |
polymerase (RNA) I polypeptide A |
| Synonyms |
RPA194, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4 |
| 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 |
71909053-71984935 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71917821 bp (GRCm38)
|
| 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 |
|---|
| 4930539E08Rik |
G |
T |
17: 28,908,313 (GRCm38) |
Q241K |
possibly damaging |
Het |
| Acad8 |
A |
G |
9: 26,990,627 (GRCm38) |
L147P |
probably damaging |
Het |
| Adgra3 |
T |
A |
5: 49,978,956 (GRCm38) |
Y729F |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 73,146,416 (GRCm38) |
Y58H |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,729,094 (GRCm38) |
T2128A |
probably damaging |
Het |
| Akap2 |
A |
T |
4: 57,855,655 (GRCm38) |
D328V |
possibly damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,648,021 (GRCm38) |
P2042Q |
possibly damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,954,561 (GRCm38) |
K155R |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,247,518 (GRCm38) |
F1209L |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,726,509 (GRCm38) |
|
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,867,716 (GRCm38) |
L656S |
probably damaging |
Het |
| Btbd17 |
A |
G |
11: 114,793,857 (GRCm38) |
F119L |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,931,283 (GRCm38) |
K267N |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,986,027 (GRCm38) |
Y495H |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,721,528 (GRCm38) |
I47V |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,033,800 (GRCm38) |
S2058P |
possibly damaging |
Het |
| Clcn6 |
T |
C |
4: 148,024,167 (GRCm38) |
E135G |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,295,079 (GRCm38) |
N687K |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,512,412 (GRCm38) |
M99L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,233,892 (GRCm38) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,822,311 (GRCm38) |
T134A |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,823,081 (GRCm38) |
|
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,176,656 (GRCm38) |
D360E |
probably damaging |
Het |
| Dhx8 |
A |
G |
11: 101,738,161 (GRCm38) |
S179G |
unknown |
Het |
| Dip2b |
A |
G |
15: 100,151,360 (GRCm38) |
I212V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 66,155,531 (GRCm38) |
H64Y |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,136,700 (GRCm38) |
|
probably benign |
Het |
| Dse |
T |
G |
10: 34,153,012 (GRCm38) |
Y694S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,051,411 (GRCm38) |
I3175V |
probably benign |
Het |
| Elf5 |
A |
G |
2: 103,449,060 (GRCm38) |
N209D |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,430,787 (GRCm38) |
Y40C |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,908,152 (GRCm38) |
E216G |
possibly damaging |
Het |
| F5 |
G |
A |
1: 164,174,186 (GRCm38) |
V153I |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,944,532 (GRCm38) |
T1277I |
possibly damaging |
Het |
| Fam90a1a |
A |
T |
8: 21,963,346 (GRCm38) |
H239L |
possibly damaging |
Het |
| Fchsd2 |
G |
T |
7: 101,250,449 (GRCm38) |
R334L |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 7,002,920 (GRCm38) |
Y369C |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,066,338 (GRCm38) |
P689S |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,556,567 (GRCm38) |
Q332K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 80,663,420 (GRCm38) |
S1767P |
probably damaging |
Het |
| Ggt5 |
T |
C |
10: 75,603,031 (GRCm38) |
L121P |
probably damaging |
Het |
| Gm609 |
A |
G |
16: 45,444,163 (GRCm38) |
S11P |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,454,817 (GRCm38) |
S119P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 56,131,253 (GRCm38) |
D1222G |
probably damaging |
Het |
| Hmx3 |
T |
C |
7: 131,544,382 (GRCm38) |
I273T |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,332,181 (GRCm38) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,539,645 (GRCm38) |
T1987I |
possibly damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,746,451 (GRCm38) |
Q58L |
probably damaging |
Het |
| Ighv14-3 |
T |
A |
12: 114,060,255 (GRCm38) |
I7F |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,091,783 (GRCm38) |
R305L |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 25,910,921 (GRCm38) |
A699V |
possibly damaging |
Het |
| Kif22 |
A |
C |
7: 127,033,328 (GRCm38) |
L270W |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,489,298 (GRCm38) |
H1960Q |
probably benign |
Het |
| March7 |
C |
T |
2: 60,241,050 (GRCm38) |
Q94* |
probably null |
Het |
| Mcoln3 |
A |
T |
3: 146,131,204 (GRCm38) |
I264F |
probably benign |
Het |
| Mdn1 |
A |
C |
4: 32,679,572 (GRCm38) |
T706P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,867,636 (GRCm38) |
C137R |
probably benign |
Het |
| Mmp25 |
A |
G |
17: 23,644,607 (GRCm38) |
V83A |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,666,434 (GRCm38) |
Y242H |
probably benign |
Het |
| Msh6 |
T |
C |
17: 87,984,806 (GRCm38) |
S330P |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,298,260 (GRCm38) |
S1156P |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,842,379 (GRCm38) |
R124H |
unknown |
Het |
| Mybbp1a |
G |
A |
11: 72,447,971 (GRCm38) |
E775K |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,793,153 (GRCm38) |
E1272G |
possibly damaging |
Het |
| Nars |
A |
G |
18: 64,505,231 (GRCm38) |
S254P |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,184,518 (GRCm38) |
I211T |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,690,790 (GRCm38) |
W582R |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,905,467 (GRCm38) |
D58V |
possibly damaging |
Het |
| Nr3c1 |
G |
T |
18: 39,428,727 (GRCm38) |
T430K |
probably benign |
Het |
| Odf2l |
A |
G |
3: 145,128,040 (GRCm38) |
T111A |
probably benign |
Het |
| Ogdh |
G |
T |
11: 6,340,600 (GRCm38) |
C406F |
probably benign |
Het |
| Olfml2a |
T |
G |
2: 38,949,010 (GRCm38) |
S190A |
probably damaging |
Het |
| Olfr148 |
T |
C |
9: 39,613,738 (GRCm38) |
M57T |
probably damaging |
Het |
| Olfr243 |
A |
G |
7: 103,716,638 (GRCm38) |
T15A |
probably benign |
Het |
| Olfr870 |
T |
C |
9: 20,171,098 (GRCm38) |
I158V |
probably benign |
Het |
| Olfr965 |
G |
T |
9: 39,719,709 (GRCm38) |
V161F |
probably benign |
Het |
| Optn |
T |
C |
2: 5,033,139 (GRCm38) |
K415E |
probably benign |
Het |
| Perm1 |
C |
A |
4: 156,220,206 (GRCm38) |
S803* |
probably null |
Het |
| Pex14 |
T |
C |
4: 148,984,085 (GRCm38) |
T84A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,620,952 (GRCm38) |
Y103* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,250,273 (GRCm38) |
C1235S |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,254,047 (GRCm38) |
S201P |
probably benign |
Het |
| Psme2b |
A |
T |
11: 48,945,666 (GRCm38) |
N151K |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,872,295 (GRCm38) |
T72S |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,260,047 (GRCm38) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 125,453,470 (GRCm38) |
R1063G |
possibly damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,022,799 (GRCm38) |
T166A |
probably benign |
Het |
| Slc5a4b |
T |
C |
10: 76,075,045 (GRCm38) |
Y319C |
possibly damaging |
Het |
| Stard3nl |
T |
A |
13: 19,376,519 (GRCm38) |
N29Y |
probably damaging |
Het |
| Sult6b2 |
G |
T |
6: 142,801,695 (GRCm38) |
C109* |
probably null |
Het |
| Tcf25 |
A |
G |
8: 123,397,025 (GRCm38) |
E467G |
possibly damaging |
Het |
| Tmem177 |
A |
T |
1: 119,910,220 (GRCm38) |
V243D |
probably benign |
Het |
| Tmem2 |
G |
A |
19: 21,797,351 (GRCm38) |
R119H |
probably benign |
Het |
| Tmem2 |
C |
T |
19: 21,844,781 (GRCm38) |
A1180V |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,943,715 (GRCm38) |
C208* |
probably null |
Het |
| Ttc1 |
A |
G |
11: 43,745,317 (GRCm38) |
V33A |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,256,034 (GRCm38) |
H283L |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,698,053 (GRCm38) |
V1091G |
probably benign |
Het |
| Vmn1r11 |
A |
T |
6: 57,137,498 (GRCm38) |
H49L |
probably damaging |
Het |
| Vmn1r160 |
G |
T |
7: 22,872,053 (GRCm38) |
S277I |
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,390,084 (GRCm38) |
S162T |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,010,732 (GRCm38) |
L80P |
probably damaging |
Het |
| Wfdc3 |
T |
C |
2: 164,743,086 (GRCm38) |
M1V |
probably null |
Het |
| Wrn |
A |
T |
8: 33,324,338 (GRCm38) |
N116K |
probably benign |
Het |
| Wscd2 |
G |
T |
5: 113,577,272 (GRCm38) |
G391V |
probably damaging |
Het |
| Zcchc11 |
G |
A |
4: 108,495,159 (GRCm38) |
E357K |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,780,602 (GRCm38) |
V215A |
probably benign |
Het |
| Zfp568 |
A |
G |
7: 30,023,277 (GRCm38) |
H549R |
probably damaging |
Het |
|
| Other mutations in Polr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Polr1a
|
APN |
6 |
71,948,486 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01834:Polr1a
|
APN |
6 |
71,948,462 (GRCm38) |
missense |
probably benign |
|
|
IGL01902:Polr1a
|
APN |
6 |
71,963,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02101:Polr1a
|
APN |
6 |
71,950,802 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02325:Polr1a
|
APN |
6 |
71,920,657 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02398:Polr1a
|
APN |
6 |
71,936,556 (GRCm38) |
splice site |
probably benign |
|
|
IGL02528:Polr1a
|
APN |
6 |
71,964,717 (GRCm38) |
missense |
probably benign |
|
|
IGL02555:Polr1a
|
APN |
6 |
71,920,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02613:Polr1a
|
APN |
6 |
71,967,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02693:Polr1a
|
APN |
6 |
71,963,846 (GRCm38) |
splice site |
probably benign |
|
|
IGL02892:Polr1a
|
APN |
6 |
71,931,696 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03059:Polr1a
|
APN |
6 |
71,936,512 (GRCm38) |
missense |
probably benign |
|
|
IGL03174:Polr1a
|
APN |
6 |
71,977,347 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
D4043:Polr1a
|
UTSW |
6 |
71,941,417 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0092:Polr1a
|
UTSW |
6 |
71,967,455 (GRCm38) |
splice site |
probably benign |
|
|
R0217:Polr1a
|
UTSW |
6 |
71,963,703 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0267:Polr1a
|
UTSW |
6 |
71,974,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0329:Polr1a
|
UTSW |
6 |
71,966,416 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0330:Polr1a
|
UTSW |
6 |
71,966,416 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0352:Polr1a
|
UTSW |
6 |
71,920,763 (GRCm38) |
splice site |
probably benign |
|
|
R0411:Polr1a
|
UTSW |
6 |
71,978,421 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0446:Polr1a
|
UTSW |
6 |
71,950,664 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0846:Polr1a
|
UTSW |
6 |
71,924,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Polr1a
|
UTSW |
6 |
71,967,916 (GRCm38) |
missense |
probably benign |
|
|
R1294:Polr1a
|
UTSW |
6 |
71,912,902 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1460:Polr1a
|
UTSW |
6 |
71,941,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1657:Polr1a
|
UTSW |
6 |
71,941,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1846:Polr1a
|
UTSW |
6 |
71,976,188 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1862:Polr1a
|
UTSW |
6 |
71,909,203 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1865:Polr1a
|
UTSW |
6 |
71,966,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1903:Polr1a
|
UTSW |
6 |
71,967,914 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1937:Polr1a
|
UTSW |
6 |
71,936,552 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2063:Polr1a
|
UTSW |
6 |
71,936,285 (GRCm38) |
splice site |
probably null |
|
|
R2071:Polr1a
|
UTSW |
6 |
71,976,074 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2084:Polr1a
|
UTSW |
6 |
71,950,809 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2377:Polr1a
|
UTSW |
6 |
71,972,826 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2410:Polr1a
|
UTSW |
6 |
71,974,882 (GRCm38) |
missense |
probably benign |
|
|
R3001:Polr1a
|
UTSW |
6 |
71,913,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3001:Polr1a
|
UTSW |
6 |
71,965,644 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,965,644 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,913,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3924:Polr1a
|
UTSW |
6 |
71,929,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4105:Polr1a
|
UTSW |
6 |
71,976,191 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4125:Polr1a
|
UTSW |
6 |
71,965,706 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4271:Polr1a
|
UTSW |
6 |
71,953,022 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4440:Polr1a
|
UTSW |
6 |
71,950,848 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4769:Polr1a
|
UTSW |
6 |
71,950,868 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4801:Polr1a
|
UTSW |
6 |
71,976,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4802:Polr1a
|
UTSW |
6 |
71,976,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4828:Polr1a
|
UTSW |
6 |
71,966,401 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4911:Polr1a
|
UTSW |
6 |
71,909,229 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5071:Polr1a
|
UTSW |
6 |
71,931,709 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5165:Polr1a
|
UTSW |
6 |
71,967,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Polr1a
|
UTSW |
6 |
71,967,907 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5239:Polr1a
|
UTSW |
6 |
71,913,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Polr1a
|
UTSW |
6 |
71,929,366 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5599:Polr1a
|
UTSW |
6 |
71,967,362 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5696:Polr1a
|
UTSW |
6 |
71,929,426 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5850:Polr1a
|
UTSW |
6 |
71,926,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6274:Polr1a
|
UTSW |
6 |
71,954,890 (GRCm38) |
splice site |
probably null |
|
|
R6526:Polr1a
|
UTSW |
6 |
71,929,443 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6578:Polr1a
|
UTSW |
6 |
71,976,041 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6660:Polr1a
|
UTSW |
6 |
71,967,374 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6892:Polr1a
|
UTSW |
6 |
71,964,712 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7274:Polr1a
|
UTSW |
6 |
71,920,516 (GRCm38) |
nonsense |
probably null |
|
|
R7291:Polr1a
|
UTSW |
6 |
71,941,456 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7311:Polr1a
|
UTSW |
6 |
71,950,879 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7431:Polr1a
|
UTSW |
6 |
71,926,659 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7479:Polr1a
|
UTSW |
6 |
71,936,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7607:Polr1a
|
UTSW |
6 |
71,913,021 (GRCm38) |
missense |
probably benign |
|
|
R7739:Polr1a
|
UTSW |
6 |
71,954,835 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7746:Polr1a
|
UTSW |
6 |
71,941,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7764:Polr1a
|
UTSW |
6 |
71,953,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7835:Polr1a
|
UTSW |
6 |
71,915,142 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8029:Polr1a
|
UTSW |
6 |
71,912,956 (GRCm38) |
nonsense |
probably null |
|
|
R8057:Polr1a
|
UTSW |
6 |
71,931,660 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8144:Polr1a
|
UTSW |
6 |
71,950,616 (GRCm38) |
missense |
probably benign |
|
|
R8170:Polr1a
|
UTSW |
6 |
71,920,749 (GRCm38) |
missense |
probably benign |
|
|
R8320:Polr1a
|
UTSW |
6 |
71,941,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8328:Polr1a
|
UTSW |
6 |
71,920,734 (GRCm38) |
missense |
probably benign |
|
|
R8331:Polr1a
|
UTSW |
6 |
71,976,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8362:Polr1a
|
UTSW |
6 |
71,964,667 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8511:Polr1a
|
UTSW |
6 |
71,920,520 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8709:Polr1a
|
UTSW |
6 |
71,974,848 (GRCm38) |
missense |
probably benign |
|
|
R8745:Polr1a
|
UTSW |
6 |
71,954,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8784:Polr1a
|
UTSW |
6 |
71,950,628 (GRCm38) |
missense |
probably benign |
|
|
R9055:Polr1a
|
UTSW |
6 |
71,915,069 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9088:Polr1a
|
UTSW |
6 |
71,931,783 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9211:Polr1a
|
UTSW |
6 |
71,966,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9228:Polr1a
|
UTSW |
6 |
71,954,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9240:Polr1a
|
UTSW |
6 |
71,963,677 (GRCm38) |
nonsense |
probably null |
|
|
R9267:Polr1a
|
UTSW |
6 |
71,965,558 (GRCm38) |
missense |
probably benign |
|
|
R9302:Polr1a
|
UTSW |
6 |
71,924,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9744:Polr1a
|
UTSW |
6 |
71,929,388 (GRCm38) |
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