Incidental Mutation 'R6376:Pole'
| ID |
514966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pole
|
| Ensembl Gene |
ENSMUSG00000007080 |
| Gene Name |
polymerase (DNA directed), epsilon |
| Synonyms |
pol-epsilon |
| MMRRC Submission |
044526-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110434185-110485319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110484240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 2175
(D2175N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000200214]
[ENSMUST00000195985]
[ENSMUST00000200037]
|
| AlphaFold |
Q9WVF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007296
AA Change: D2175N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: D2175N
| 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 benign
Transcript: ENSMUST00000058016
|
| SMART Domains |
Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
388 |
1.5e-149 |
PFAM |
|
low complexity region
|
419 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112478
|
| SMART Domains |
Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
395 |
4e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112481
AA Change: D299N
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108100
Gene: ENSMUSG00000007080
AA Change: D299N
| 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: ENSMUST00000137099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200214
|
| SMART Domains |
Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
1 |
306 |
1.3e-117 |
PFAM |
|
low complexity region
|
332 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195985
|
| SMART Domains |
Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
393 |
7.4e-144 |
PFAM |
|
low complexity region
|
419 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200037
|
| SMART Domains |
Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
388 |
5.5e-149 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (81/81) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
T |
9: 53,339,456 (GRCm39) |
E106D |
probably damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,718 (GRCm39) |
N333Y |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,917,309 (GRCm39) |
M1007K |
possibly damaging |
Het |
| Accsl |
T |
A |
2: 93,687,343 (GRCm39) |
I495F |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,674,182 (GRCm39) |
S373P |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,742,546 (GRCm39) |
I689T |
possibly damaging |
Het |
| Akap11 |
G |
A |
14: 78,752,336 (GRCm39) |
T179I |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,816,187 (GRCm39) |
K309R |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,859,673 (GRCm39) |
I824N |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,148,488 (GRCm39) |
C1152S |
probably damaging |
Het |
| Arhgap17 |
C |
A |
7: 122,899,727 (GRCm39) |
W409L |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,845,796 (GRCm39) |
I19V |
unknown |
Het |
| Arnt |
C |
A |
3: 95,397,936 (GRCm39) |
P573H |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,223,882 (GRCm39) |
G932R |
probably damaging |
Het |
| Atg4a-ps |
C |
T |
3: 103,553,044 (GRCm39) |
W99* |
probably null |
Het |
| Atp13a5 |
T |
A |
16: 29,056,004 (GRCm39) |
D1052V |
probably benign |
Het |
| Atp2b4 |
T |
C |
1: 133,642,797 (GRCm39) |
T1103A |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,335 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
| Cep170b |
A |
T |
12: 112,698,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Coq3 |
T |
G |
4: 21,900,486 (GRCm39) |
C238G |
probably benign |
Het |
| Cpa5 |
A |
T |
6: 30,614,044 (GRCm39) |
Q62L |
probably benign |
Het |
| Ctsg |
A |
T |
14: 56,339,110 (GRCm39) |
C49* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,819,489 (GRCm39) |
T2000A |
probably damaging |
Het |
| Dedd |
C |
T |
1: 171,167,790 (GRCm39) |
P155S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,997,565 (GRCm39) |
S2598P |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,433,459 (GRCm39) |
P379S |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,165,703 (GRCm39) |
S519R |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,874,660 (GRCm39) |
S1192G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,084,760 (GRCm39) |
I869T |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,112,651 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Exoc3l2 |
G |
A |
7: 19,203,635 (GRCm39) |
A76T |
possibly damaging |
Het |
| Fam89b |
T |
C |
19: 5,778,757 (GRCm39) |
Y144C |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,749,580 (GRCm39) |
E1082G |
probably damaging |
Het |
| Gtf3a |
A |
T |
5: 146,890,798 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
C |
A |
15: 102,845,524 (GRCm39) |
F79L |
possibly damaging |
Het |
| Hspb8 |
G |
T |
5: 116,547,491 (GRCm39) |
L164I |
probably damaging |
Het |
| Ina |
C |
T |
19: 47,003,564 (GRCm39) |
A124V |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,411 (GRCm39) |
I293F |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,314,449 (GRCm39) |
Y633C |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,872,949 (GRCm39) |
V1102I |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,361 (GRCm39) |
F1138Y |
probably benign |
Het |
| Large2 |
T |
A |
2: 92,200,853 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,959,966 (GRCm39) |
S177P |
probably benign |
Het |
| Lims2 |
G |
A |
18: 32,087,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,787 (GRCm39) |
T2315S |
probably benign |
Het |
| Lrrc4c |
A |
C |
2: 97,459,391 (GRCm39) |
T6P |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,626,469 (GRCm39) |
L1171S |
possibly damaging |
Het |
| Man2b2 |
A |
T |
5: 36,978,378 (GRCm39) |
M302K |
probably damaging |
Het |
| Mocos |
G |
A |
18: 24,834,542 (GRCm39) |
G860R |
possibly damaging |
Het |
| Mylk3 |
T |
A |
8: 86,085,571 (GRCm39) |
D258V |
possibly damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,201,240 (GRCm39) |
D6N |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,758,176 (GRCm39) |
N54S |
possibly damaging |
Het |
| Nt5el |
T |
C |
13: 105,256,473 (GRCm39) |
I514T |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,727,848 (GRCm39) |
F251L |
probably benign |
Het |
| Pacsin1 |
A |
T |
17: 27,926,879 (GRCm39) |
T195S |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,056,693 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,327,180 (GRCm39) |
M126L |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,505,432 (GRCm39) |
T204S |
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,267 (GRCm39) |
G104E |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,749 (GRCm39) |
K2545E |
probably benign |
Het |
| Prodh |
T |
C |
16: 17,897,849 (GRCm39) |
I183V |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,684,988 (GRCm39) |
V246M |
probably damaging |
Het |
| Rubcnl |
A |
G |
14: 75,269,834 (GRCm39) |
N164S |
probably benign |
Het |
| Samd4 |
A |
T |
14: 47,290,419 (GRCm39) |
L175F |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,642 (GRCm39) |
G851D |
probably damaging |
Het |
| Scimp |
C |
A |
11: 70,688,893 (GRCm39) |
W41L |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,843 (GRCm39) |
K1634N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,030,888 (GRCm39) |
R957G |
probably benign |
Het |
| Sptlc3 |
T |
A |
2: 139,478,692 (GRCm39) |
N550K |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,094,361 (GRCm39) |
N609D |
probably null |
Het |
| Styxl1 |
A |
T |
5: 135,776,664 (GRCm39) |
L164H |
probably benign |
Het |
| Synpo2l |
A |
T |
14: 20,710,702 (GRCm39) |
D865E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,267 (GRCm39) |
M19V |
probably damaging |
Het |
| Trappc8 |
G |
C |
18: 20,970,132 (GRCm39) |
R953G |
probably benign |
Het |
| Trav13-1 |
A |
G |
14: 53,782,800 (GRCm39) |
N50S |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,955,241 (GRCm39) |
K161E |
probably benign |
Het |
| Vipr1 |
C |
A |
9: 121,493,640 (GRCm39) |
N230K |
probably damaging |
Het |
| Xirp1 |
A |
T |
9: 119,847,557 (GRCm39) |
V3E |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,892 (GRCm39) |
F82L |
probably benign |
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 |
|
R1891:Pole
|
UTSW |
5 |
110,480,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AAGCCACTCCACTGTAACGTG -3'
(R):5'- TCTAAACATGATCTTGGCTTCTCTG -3'
Sequencing Primer
(F):5'- TGTTCTGAAAGGTCTGATCAGCAC -3'
(R):5'- CATGATCTTGGCTTCTCTGAAATG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation