Incidental Mutation 'R1891:Pole'
| ID |
211476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pole
|
| Ensembl Gene |
ENSMUSG00000007080 |
| Gene Name |
polymerase (DNA directed), epsilon |
| Synonyms |
pol-epsilon |
| MMRRC Submission |
039911-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1891 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110434185-110485319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110480408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 1993
(F1993Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000112481]
|
| AlphaFold |
Q9WVF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007296
AA Change: F1993Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: F1993Y
| Domain | Start | End | E-Value | Type |
|---|
|
POLBc
|
267 |
870 |
9.42e-97 |
SMART |
|
Blast:POLBc
|
903 |
970 |
1e-28 |
BLAST |
|
Blast:POLBc
|
1014 |
1073 |
2e-22 |
BLAST |
|
Blast:POLBc
|
1195 |
1266 |
7e-21 |
BLAST |
|
low complexity region
|
1275 |
1294 |
N/A |
INTRINSIC |
|
Blast:DUF1744
|
1401 |
1430 |
2e-7 |
BLAST |
|
DUF1744
|
1524 |
1924 |
1.9e-236 |
SMART |
|
coiled coil region
|
1936 |
1963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112481
AA Change: F117Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108100
Gene: ENSMUSG00000007080
AA Change: F117Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1744
|
13 |
48 |
2.7e-13 |
PFAM |
|
coiled coil region
|
60 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157097
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,840,874 (GRCm39) |
I921T |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,982,433 (GRCm39) |
K3R |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,659,891 (GRCm39) |
D152V |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,958 (GRCm39) |
D2124V |
possibly damaging |
Het |
| Akt1 |
A |
G |
12: 112,626,009 (GRCm39) |
F88L |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,479,342 (GRCm39) |
|
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,821 (GRCm39) |
N141K |
possibly damaging |
Het |
| Cacna1c |
C |
A |
6: 118,753,480 (GRCm39) |
D219Y |
probably damaging |
Het |
| Ccdc113 |
A |
G |
8: 96,267,544 (GRCm39) |
K170E |
probably damaging |
Het |
| Ceacam9 |
A |
G |
7: 16,457,880 (GRCm39) |
E136G |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,802,380 (GRCm39) |
L333P |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,691,544 (GRCm39) |
D1062G |
possibly damaging |
Het |
| Cimip4 |
T |
A |
15: 78,262,952 (GRCm39) |
D234V |
probably damaging |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,307 (GRCm39) |
V91E |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,637,758 (GRCm39) |
H325Q |
probably null |
Het |
| Cngb3 |
A |
G |
4: 19,366,446 (GRCm39) |
N169S |
probably benign |
Het |
| Cog6 |
A |
C |
3: 52,890,601 (GRCm39) |
I613R |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,817,385 (GRCm39) |
L376P |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,243,985 (GRCm39) |
V396D |
possibly damaging |
Het |
| Cxxc5 |
A |
G |
18: 35,992,318 (GRCm39) |
M240V |
possibly damaging |
Het |
| Defa28 |
G |
A |
8: 22,073,801 (GRCm39) |
C68Y |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,388,227 (GRCm39) |
I187T |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,962 (GRCm39) |
S117P |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,084,577 (GRCm39) |
C319S |
probably damaging |
Het |
| Ess2 |
C |
T |
16: 17,725,644 (GRCm39) |
W183* |
probably null |
Het |
| Evc2 |
A |
C |
5: 37,549,423 (GRCm39) |
D773A |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,586,678 (GRCm39) |
T252S |
probably benign |
Het |
| Fbxo28 |
A |
T |
1: 182,145,389 (GRCm39) |
M233K |
probably benign |
Het |
| Fbxw26 |
T |
G |
9: 109,551,232 (GRCm39) |
D355A |
probably benign |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,264 (GRCm39) |
R94Q |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,517,422 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
A |
4: 137,292,801 (GRCm39) |
D4126E |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,082,695 (GRCm39) |
E48G |
possibly damaging |
Het |
| Krt31 |
T |
A |
11: 99,938,634 (GRCm39) |
N320Y |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,661 (GRCm39) |
Y561C |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,929,048 (GRCm39) |
L1195F |
probably damaging |
Het |
| Ly6g6d |
A |
C |
17: 35,293,269 (GRCm39) |
Y25* |
probably null |
Het |
| Map3k13 |
T |
G |
16: 21,729,836 (GRCm39) |
M489R |
probably damaging |
Het |
| Mcm6 |
C |
T |
1: 128,263,547 (GRCm39) |
R658H |
probably damaging |
Het |
| Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,918,237 (GRCm39) |
T94A |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,692,106 (GRCm39) |
L513* |
probably null |
Het |
| Mst1r |
T |
A |
9: 107,790,661 (GRCm39) |
N722K |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,982,284 (GRCm39) |
L497* |
probably null |
Het |
| Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,440,973 (GRCm39) |
M1101T |
possibly damaging |
Het |
| Odad3 |
G |
T |
9: 21,906,677 (GRCm39) |
|
probably null |
Het |
| Or2y1b |
T |
C |
11: 49,208,684 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f60 |
A |
T |
2: 111,902,739 (GRCm39) |
L63Q |
probably damaging |
Het |
| Or52l1 |
A |
T |
7: 104,829,754 (GRCm39) |
Y270* |
probably null |
Het |
| Or5ae1 |
T |
A |
7: 84,565,461 (GRCm39) |
V158D |
possibly damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,439 (GRCm39) |
S70P |
probably damaging |
Het |
| Or7a40 |
T |
A |
16: 16,491,441 (GRCm39) |
I135F |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,947,274 (GRCm39) |
L285S |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,938 (GRCm39) |
D286G |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,691,859 (GRCm39) |
V129E |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,511,937 (GRCm39) |
R215C |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,217 (GRCm39) |
I591F |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,357 (GRCm39) |
V275A |
probably damaging |
Het |
| Pkp3 |
C |
T |
7: 140,663,969 (GRCm39) |
|
probably null |
Het |
| Plekhb1 |
A |
G |
7: 100,304,599 (GRCm39) |
L35P |
probably damaging |
Het |
| Pramel28 |
A |
T |
4: 143,693,235 (GRCm39) |
V81E |
probably damaging |
Het |
| Prdx1 |
T |
C |
4: 116,556,451 (GRCm39) |
*200R |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,543,300 (GRCm39) |
T1777N |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,902,967 (GRCm39) |
M135K |
possibly damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,530,850 (GRCm39) |
V106M |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,222,868 (GRCm39) |
E63G |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,620,444 (GRCm39) |
S123A |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,397,675 (GRCm39) |
N202D |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,351 (GRCm39) |
Y212F |
probably damaging |
Het |
| Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,068,235 (GRCm39) |
D179V |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,703,893 (GRCm39) |
D994G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,381,904 (GRCm39) |
S46P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,519,433 (GRCm39) |
T352A |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,863,287 (GRCm39) |
R2133L |
probably benign |
Het |
| Stk11ip |
T |
C |
1: 75,509,060 (GRCm39) |
C730R |
probably benign |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,522,150 (GRCm39) |
|
probably null |
Het |
| Tmem200a |
T |
A |
10: 25,869,970 (GRCm39) |
N100Y |
probably damaging |
Het |
| Tnnt2 |
A |
T |
1: 135,768,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,706,302 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,904,974 (GRCm39) |
V88A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,666,910 (GRCm39) |
E476G |
probably benign |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,425 (GRCm39) |
R213H |
probably benign |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,938 (GRCm39) |
V761M |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,187,454 (GRCm39) |
Y678N |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,206,200 (GRCm39) |
E1865* |
probably null |
Het |
| Zc3h3 |
A |
C |
15: 75,628,780 (GRCm39) |
M838R |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,604 (GRCm39) |
C211S |
probably damaging |
Het |
|
| Other mutations in Pole |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Pole
|
APN |
5 |
110,451,431 (GRCm39) |
splice site |
probably benign |
|
|
IGL00475:Pole
|
APN |
5 |
110,438,962 (GRCm39) |
nonsense |
probably null |
|
|
IGL00837:Pole
|
APN |
5 |
110,449,875 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00976:Pole
|
APN |
5 |
110,471,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01081:Pole
|
APN |
5 |
110,485,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01503:Pole
|
APN |
5 |
110,451,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01640:Pole
|
APN |
5 |
110,446,132 (GRCm39) |
missense |
probably null |
0.08 |
|
IGL01987:Pole
|
APN |
5 |
110,485,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02429:Pole
|
APN |
5 |
110,447,666 (GRCm39) |
missense |
probably benign |
|
|
IGL02733:Pole
|
APN |
5 |
110,460,594 (GRCm39) |
splice site |
probably benign |
|
|
IGL03102:Pole
|
APN |
5 |
110,444,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03157:Pole
|
APN |
5 |
110,441,619 (GRCm39) |
missense |
probably benign |
|
|
IGL03186:Pole
|
APN |
5 |
110,447,786 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03271:Pole
|
APN |
5 |
110,466,185 (GRCm39) |
missense |
probably benign |
|
|
IGL03351:Pole
|
APN |
5 |
110,449,864 (GRCm39) |
splice site |
probably benign |
|
|
IGL03408:Pole
|
APN |
5 |
110,442,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Pole
|
APN |
5 |
110,472,425 (GRCm39) |
missense |
probably benign |
|
|
ANU74:Pole
|
UTSW |
5 |
110,437,236 (GRCm39) |
missense |
probably benign |
0.44 |
|
PIT4495001:Pole
|
UTSW |
5 |
110,451,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Pole
|
UTSW |
5 |
110,441,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Pole
|
UTSW |
5 |
110,441,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Pole
|
UTSW |
5 |
110,451,858 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0145:Pole
|
UTSW |
5 |
110,472,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0523:Pole
|
UTSW |
5 |
110,451,459 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0590:Pole
|
UTSW |
5 |
110,465,792 (GRCm39) |
missense |
probably benign |
|
|
R0625:Pole
|
UTSW |
5 |
110,473,416 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0707:Pole
|
UTSW |
5 |
110,446,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Pole
|
UTSW |
5 |
110,443,119 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1320:Pole
|
UTSW |
5 |
110,456,995 (GRCm39) |
frame shift |
probably null |
|
|
R1384:Pole
|
UTSW |
5 |
110,471,530 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1626:Pole
|
UTSW |
5 |
110,441,235 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1643:Pole
|
UTSW |
5 |
110,465,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Pole
|
UTSW |
5 |
110,483,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Pole
|
UTSW |
5 |
110,445,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Pole
|
UTSW |
5 |
110,445,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Pole
|
UTSW |
5 |
110,478,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1853:Pole
|
UTSW |
5 |
110,454,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1867:Pole
|
UTSW |
5 |
110,482,063 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1874:Pole
|
UTSW |
5 |
110,471,530 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1928:Pole
|
UTSW |
5 |
110,475,644 (GRCm39) |
missense |
probably benign |
|
|
R2073:Pole
|
UTSW |
5 |
110,473,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2341:Pole
|
UTSW |
5 |
110,478,829 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2448:Pole
|
UTSW |
5 |
110,444,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Pole
|
UTSW |
5 |
110,438,368 (GRCm39) |
splice site |
probably null |
|
|
R3053:Pole
|
UTSW |
5 |
110,437,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3892:Pole
|
UTSW |
5 |
110,484,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Pole
|
UTSW |
5 |
110,460,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Pole
|
UTSW |
5 |
110,460,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Pole
|
UTSW |
5 |
110,485,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4376:Pole
|
UTSW |
5 |
110,485,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4377:Pole
|
UTSW |
5 |
110,485,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4520:Pole
|
UTSW |
5 |
110,445,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Pole
|
UTSW |
5 |
110,454,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4778:Pole
|
UTSW |
5 |
110,478,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4887:Pole
|
UTSW |
5 |
110,472,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4898:Pole
|
UTSW |
5 |
110,438,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5184:Pole
|
UTSW |
5 |
110,442,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5359:Pole
|
UTSW |
5 |
110,480,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5483:Pole
|
UTSW |
5 |
110,442,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Pole
|
UTSW |
5 |
110,480,332 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5576:Pole
|
UTSW |
5 |
110,459,931 (GRCm39) |
nonsense |
probably null |
|
|
R5817:Pole
|
UTSW |
5 |
110,460,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Pole
|
UTSW |
5 |
110,480,329 (GRCm39) |
missense |
probably benign |
|
|
R5956:Pole
|
UTSW |
5 |
110,485,153 (GRCm39) |
unclassified |
probably benign |
|
|
R5990:Pole
|
UTSW |
5 |
110,450,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Pole
|
UTSW |
5 |
110,472,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6019:Pole
|
UTSW |
5 |
110,472,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6093:Pole
|
UTSW |
5 |
110,459,956 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6376:Pole
|
UTSW |
5 |
110,484,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6494:Pole
|
UTSW |
5 |
110,472,588 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6535:Pole
|
UTSW |
5 |
110,472,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Pole
|
UTSW |
5 |
110,471,482 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6757:Pole
|
UTSW |
5 |
110,451,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Pole
|
UTSW |
5 |
110,441,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6988:Pole
|
UTSW |
5 |
110,477,449 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6992:Pole
|
UTSW |
5 |
110,480,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7067:Pole
|
UTSW |
5 |
110,482,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Pole
|
UTSW |
5 |
110,472,968 (GRCm39) |
splice site |
probably null |
|
|
R7122:Pole
|
UTSW |
5 |
110,472,968 (GRCm39) |
splice site |
probably null |
|
|
R7202:Pole
|
UTSW |
5 |
110,444,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7340:Pole
|
UTSW |
5 |
110,482,330 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7345:Pole
|
UTSW |
5 |
110,451,769 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7509:Pole
|
UTSW |
5 |
110,478,571 (GRCm39) |
start gained |
probably benign |
|
|
R7557:Pole
|
UTSW |
5 |
110,460,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Pole
|
UTSW |
5 |
110,478,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7792:Pole
|
UTSW |
5 |
110,445,332 (GRCm39) |
splice site |
probably null |
|
|
R7832:Pole
|
UTSW |
5 |
110,465,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Pole
|
UTSW |
5 |
110,480,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7852:Pole
|
UTSW |
5 |
110,454,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Pole
|
UTSW |
5 |
110,437,727 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8001:Pole
|
UTSW |
5 |
110,460,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8266:Pole
|
UTSW |
5 |
110,442,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Pole
|
UTSW |
5 |
110,482,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8793:Pole
|
UTSW |
5 |
110,445,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Pole
|
UTSW |
5 |
110,454,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8863:Pole
|
UTSW |
5 |
110,437,233 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8929:Pole
|
UTSW |
5 |
110,445,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8968:Pole
|
UTSW |
5 |
110,459,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8992:Pole
|
UTSW |
5 |
110,471,488 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9018:Pole
|
UTSW |
5 |
110,437,675 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9177:Pole
|
UTSW |
5 |
110,480,288 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9250:Pole
|
UTSW |
5 |
110,447,687 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9262:Pole
|
UTSW |
5 |
110,473,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Pole
|
UTSW |
5 |
110,473,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9367:Pole
|
UTSW |
5 |
110,444,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9383:Pole
|
UTSW |
5 |
110,438,892 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9626:Pole
|
UTSW |
5 |
110,459,959 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9676:Pole
|
UTSW |
5 |
110,443,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9720:Pole
|
UTSW |
5 |
110,484,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9787:Pole
|
UTSW |
5 |
110,465,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9794:Pole
|
UTSW |
5 |
110,466,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0064:Pole
|
UTSW |
5 |
110,465,770 (GRCm39) |
nonsense |
probably null |
|
|
Y5377:Pole
|
UTSW |
5 |
110,442,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Y5380:Pole
|
UTSW |
5 |
110,442,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Pole
|
UTSW |
5 |
110,475,731 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Pole
|
UTSW |
5 |
110,444,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGTGTTGTAGCAAGACTCC -3'
(R):5'- GAGCATGCACATGTTCCCAG -3'
Sequencing Primer
(F):5'- TGTTGTAGCAAGACTCCCAGGC -3'
(R):5'- ATGCACATGTTCCCAGGGATG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation