Incidental Mutation 'R0513:Polq'
ID |
48054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polq
|
Ensembl Gene |
ENSMUSG00000034206 |
Gene Name |
polymerase (DNA directed), theta |
Synonyms |
A430110D14Rik |
MMRRC Submission |
038707-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R0513 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36832148-36915779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36914864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 2508
(V2508E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054034]
[ENSMUST00000071452]
[ENSMUST00000182946]
[ENSMUST00000183112]
|
AlphaFold |
Q8CGS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054034
AA Change: V2508E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059757 Gene: ENSMUSG00000034206 AA Change: V2508E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
DEXDc
|
87 |
298 |
4.09e-18 |
SMART |
HELICc
|
398 |
484 |
4.02e-17 |
SMART |
Blast:DEXDc
|
485 |
550 |
2e-25 |
BLAST |
low complexity region
|
609 |
626 |
N/A |
INTRINSIC |
PDB:2ZJA|A
|
712 |
826 |
5e-9 |
PDB |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
low complexity region
|
898 |
911 |
N/A |
INTRINSIC |
low complexity region
|
1126 |
1149 |
N/A |
INTRINSIC |
low complexity region
|
1813 |
1822 |
N/A |
INTRINSIC |
POLAc
|
2265 |
2504 |
3.3e-101 |
SMART |
low complexity region
|
2521 |
2531 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071452
AA Change: V2229E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071396 Gene: ENSMUSG00000034206 AA Change: V2229E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
Pfam:DEAD
|
92 |
216 |
5.9e-12 |
PFAM |
low complexity region
|
330 |
347 |
N/A |
INTRINSIC |
PDB:2ZJA|A
|
433 |
547 |
5e-9 |
PDB |
low complexity region
|
566 |
573 |
N/A |
INTRINSIC |
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
low complexity region
|
847 |
870 |
N/A |
INTRINSIC |
low complexity region
|
1534 |
1543 |
N/A |
INTRINSIC |
POLAc
|
1986 |
2225 |
3.3e-101 |
SMART |
low complexity region
|
2242 |
2252 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182717
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182946
|
SMART Domains |
Protein: ENSMUSP00000138685 Gene: ENSMUSG00000034206
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
Pfam:DEAD
|
92 |
164 |
1.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183112
|
SMART Domains |
Protein: ENSMUSP00000138648 Gene: ENSMUSG00000034206
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
Pfam:DEAD
|
92 |
164 |
1.3e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.7479 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.9%
|
Validation Efficiency |
99% (122/123) |
MGI Phenotype |
PHENOTYPE: Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 118 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,606,195 (GRCm39) |
T146A |
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,192,984 (GRCm39) |
S121P |
possibly damaging |
Het |
Actr2 |
T |
C |
11: 20,030,124 (GRCm39) |
T212A |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,347,088 (GRCm39) |
D368E |
probably benign |
Het |
Albfm1 |
A |
T |
5: 90,725,786 (GRCm39) |
T333S |
probably benign |
Het |
Anapc15 |
T |
C |
7: 101,547,747 (GRCm39) |
|
probably benign |
Het |
Aox4 |
A |
G |
1: 58,256,678 (GRCm39) |
R67G |
probably benign |
Het |
Aox4 |
A |
G |
1: 58,286,459 (GRCm39) |
D697G |
probably damaging |
Het |
Arhgap42 |
A |
T |
9: 9,005,766 (GRCm39) |
S755T |
probably benign |
Het |
Atm |
A |
G |
9: 53,415,248 (GRCm39) |
V881A |
probably benign |
Het |
Cdkal1 |
C |
T |
13: 29,809,948 (GRCm39) |
|
probably benign |
Het |
Cfap20dc |
A |
C |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
Cfap61 |
C |
A |
2: 145,877,215 (GRCm39) |
N491K |
possibly damaging |
Het |
Chgb |
T |
C |
2: 132,627,897 (GRCm39) |
|
probably benign |
Het |
Chrna1 |
C |
A |
2: 73,398,426 (GRCm39) |
|
probably benign |
Het |
Chst10 |
A |
G |
1: 38,904,844 (GRCm39) |
L283P |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,466,323 (GRCm39) |
|
probably null |
Het |
Crppa |
A |
T |
12: 36,440,467 (GRCm39) |
H125L |
probably damaging |
Het |
Cryzl1 |
G |
T |
16: 91,496,175 (GRCm39) |
A1E |
possibly damaging |
Het |
Csnk1a1 |
T |
C |
18: 61,709,618 (GRCm39) |
Y213H |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,805,375 (GRCm39) |
Q2062R |
probably benign |
Het |
Ctnnal1 |
A |
G |
4: 56,835,348 (GRCm39) |
C310R |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
D930048N14Rik |
T |
C |
11: 51,545,755 (GRCm39) |
|
probably benign |
Het |
Dag1 |
G |
A |
9: 108,085,684 (GRCm39) |
P486S |
possibly damaging |
Het |
Dgkq |
A |
G |
5: 108,804,361 (GRCm39) |
L33P |
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,051,164 (GRCm39) |
G856R |
probably damaging |
Het |
Dst |
T |
A |
1: 34,258,612 (GRCm39) |
|
probably benign |
Het |
Dtl |
A |
T |
1: 191,301,819 (GRCm39) |
Y79* |
probably null |
Het |
Egfr |
T |
G |
11: 16,822,855 (GRCm39) |
L406R |
probably damaging |
Het |
Elp3 |
A |
T |
14: 65,800,695 (GRCm39) |
|
probably null |
Het |
Fbxw19 |
C |
A |
9: 109,310,621 (GRCm39) |
|
probably null |
Het |
Frs2 |
T |
C |
10: 116,910,570 (GRCm39) |
E264G |
possibly damaging |
Het |
Fscn2 |
G |
T |
11: 120,252,706 (GRCm39) |
V58L |
probably damaging |
Het |
Gm17324 |
G |
A |
9: 78,356,007 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
A |
T |
12: 81,425,086 (GRCm39) |
N357K |
probably benign |
Het |
Gm9956 |
G |
T |
10: 56,621,291 (GRCm39) |
|
|
Het |
Gsg1l |
C |
T |
7: 125,619,795 (GRCm39) |
|
probably null |
Het |
Herc1 |
G |
A |
9: 66,352,927 (GRCm39) |
V2138M |
possibly damaging |
Het |
Htr2a |
T |
C |
14: 74,943,764 (GRCm39) |
L448P |
probably benign |
Het |
Ing3 |
C |
T |
6: 21,970,034 (GRCm39) |
S255L |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,859,384 (GRCm39) |
D271G |
probably damaging |
Het |
Lmbrd2 |
T |
A |
15: 9,194,816 (GRCm39) |
L606H |
probably damaging |
Het |
Lmod1 |
T |
A |
1: 135,252,906 (GRCm39) |
N53K |
probably damaging |
Het |
Lsr |
G |
C |
7: 30,657,763 (GRCm39) |
A467G |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,823,038 (GRCm39) |
|
probably null |
Het |
Mill1 |
T |
A |
7: 17,998,802 (GRCm39) |
Y337* |
probably null |
Het |
Mlxipl |
A |
T |
5: 135,166,117 (GRCm39) |
Q833L |
probably benign |
Het |
Mon2 |
C |
T |
10: 122,874,515 (GRCm39) |
V278M |
probably damaging |
Het |
Mxra8 |
A |
C |
4: 155,926,190 (GRCm39) |
M180L |
probably benign |
Het |
Myo18a |
A |
T |
11: 77,702,420 (GRCm39) |
|
probably benign |
Het |
Myo1c |
T |
G |
11: 75,556,657 (GRCm39) |
|
probably null |
Het |
Myo1g |
T |
C |
11: 6,460,203 (GRCm39) |
T782A |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,975,401 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
Nedd4l |
T |
A |
18: 65,328,256 (GRCm39) |
|
probably benign |
Het |
Nf2 |
T |
C |
11: 4,741,185 (GRCm39) |
K343R |
possibly damaging |
Het |
Nfasc |
A |
T |
1: 132,531,584 (GRCm39) |
D733E |
possibly damaging |
Het |
Nolc1 |
G |
A |
19: 46,072,598 (GRCm39) |
D699N |
probably damaging |
Het |
Nrbp2 |
C |
T |
15: 75,960,825 (GRCm39) |
A45T |
probably benign |
Het |
Obscn |
A |
G |
11: 58,952,348 (GRCm39) |
V3907A |
possibly damaging |
Het |
Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
Or2y6 |
T |
C |
11: 52,104,576 (GRCm39) |
Q80R |
possibly damaging |
Het |
Or8b8 |
A |
T |
9: 37,809,351 (GRCm39) |
Y217F |
probably damaging |
Het |
Pank2 |
C |
T |
2: 131,124,526 (GRCm39) |
T290I |
probably damaging |
Het |
Pbx4 |
T |
C |
8: 70,317,529 (GRCm39) |
V171A |
probably benign |
Het |
Pcgf1 |
G |
T |
6: 83,057,555 (GRCm39) |
V75F |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,515,660 (GRCm39) |
S778P |
probably damaging |
Het |
Pld6 |
T |
C |
11: 59,676,047 (GRCm39) |
I141M |
probably damaging |
Het |
Prkca |
C |
G |
11: 107,905,202 (GRCm39) |
D179H |
possibly damaging |
Het |
Pspn |
T |
C |
17: 57,306,720 (GRCm39) |
S70G |
probably damaging |
Het |
Ptchd4 |
C |
T |
17: 42,814,637 (GRCm39) |
T846I |
probably benign |
Het |
Reg3g |
A |
C |
6: 78,444,827 (GRCm39) |
Y50* |
probably null |
Het |
Rev3l |
C |
T |
10: 39,704,139 (GRCm39) |
H2062Y |
probably benign |
Het |
Rsph4a |
C |
T |
10: 33,788,987 (GRCm39) |
Q611* |
probably null |
Het |
Scart1 |
C |
A |
7: 139,804,873 (GRCm39) |
C625* |
probably null |
Het |
Scgb1b20 |
G |
A |
7: 33,072,739 (GRCm39) |
|
probably null |
Het |
Sfxn5 |
T |
C |
6: 85,246,955 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
T |
A |
5: 35,857,651 (GRCm39) |
Q1179L |
possibly damaging |
Het |
Skint11 |
A |
G |
4: 114,051,762 (GRCm39) |
I37V |
probably benign |
Het |
Slc35f5 |
T |
C |
1: 125,503,906 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
A |
C |
7: 15,891,264 (GRCm39) |
D768A |
probably damaging |
Het |
Slco6b1 |
A |
G |
1: 96,924,909 (GRCm39) |
|
noncoding transcript |
Het |
Smurf2 |
T |
A |
11: 106,726,931 (GRCm39) |
T453S |
probably benign |
Het |
Spag16 |
A |
G |
1: 70,532,927 (GRCm39) |
|
probably benign |
Het |
Spindoc |
G |
A |
19: 7,351,509 (GRCm39) |
T205I |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,870,902 (GRCm39) |
I1316V |
probably benign |
Het |
Stox2 |
T |
C |
8: 47,646,900 (GRCm39) |
R187G |
probably damaging |
Het |
Tcea2 |
A |
C |
2: 181,326,274 (GRCm39) |
T93P |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,544,830 (GRCm39) |
M2311T |
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,788,026 (GRCm39) |
Q260R |
probably benign |
Het |
Tnpo2 |
A |
T |
8: 85,780,158 (GRCm39) |
H698L |
probably benign |
Het |
Trim33 |
A |
G |
3: 103,217,700 (GRCm39) |
D215G |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,227,071 (GRCm39) |
I727N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,773,669 (GRCm39) |
K2271N |
probably damaging |
Het |
Ubr2 |
T |
A |
17: 47,297,705 (GRCm39) |
K223* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,144,186 (GRCm39) |
M1410V |
possibly damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,151,271 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
T |
A |
9: 120,981,391 (GRCm39) |
H880L |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,661,633 (GRCm39) |
C1686Y |
possibly damaging |
Het |
Upf2 |
T |
A |
2: 5,962,478 (GRCm39) |
L60Q |
unknown |
Het |
Usf2 |
A |
T |
7: 30,654,161 (GRCm39) |
|
probably benign |
Het |
Usp21 |
T |
A |
1: 171,110,586 (GRCm39) |
|
probably benign |
Het |
Usp21 |
T |
A |
1: 171,110,588 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
T |
A |
17: 55,917,970 (GRCm39) |
K181* |
probably null |
Het |
Vmn2r124 |
T |
A |
17: 18,293,991 (GRCm39) |
S693T |
possibly damaging |
Het |
Vmn2r76 |
C |
A |
7: 85,877,987 (GRCm39) |
G470V |
probably benign |
Het |
Vps13c |
A |
C |
9: 67,838,017 (GRCm39) |
I1856L |
probably benign |
Het |
Vps50 |
C |
T |
6: 3,520,210 (GRCm39) |
L119F |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 102,038,655 (GRCm39) |
S2012C |
probably damaging |
Het |
Zfp1008 |
A |
C |
13: 62,753,029 (GRCm39) |
V99G |
possibly damaging |
Het |
Zfp142 |
A |
G |
1: 74,610,714 (GRCm39) |
V924A |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp235 |
T |
C |
7: 23,841,644 (GRCm39) |
S688P |
probably damaging |
Het |
Zfp39 |
C |
T |
11: 58,780,813 (GRCm39) |
V650I |
probably benign |
Het |
Zfp82 |
A |
T |
7: 29,756,265 (GRCm39) |
N272K |
probably damaging |
Het |
Zfyve21 |
A |
C |
12: 111,789,698 (GRCm39) |
D54A |
possibly damaging |
Het |
Zfyve26 |
C |
T |
12: 79,291,258 (GRCm39) |
D2116N |
probably damaging |
Het |
|
Other mutations in Polq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Polq
|
APN |
16 |
36,885,609 (GRCm39) |
splice site |
probably benign |
|
IGL00539:Polq
|
APN |
16 |
36,880,931 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00960:Polq
|
APN |
16 |
36,880,874 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01100:Polq
|
APN |
16 |
36,881,474 (GRCm39) |
missense |
probably benign |
|
IGL01112:Polq
|
APN |
16 |
36,837,671 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Polq
|
APN |
16 |
36,866,231 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01432:Polq
|
APN |
16 |
36,892,184 (GRCm39) |
splice site |
probably benign |
|
IGL01522:Polq
|
APN |
16 |
36,848,265 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01565:Polq
|
APN |
16 |
36,833,475 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01592:Polq
|
APN |
16 |
36,855,212 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01690:Polq
|
APN |
16 |
36,883,200 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01943:Polq
|
APN |
16 |
36,881,805 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02531:Polq
|
APN |
16 |
36,882,736 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02553:Polq
|
APN |
16 |
36,862,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02623:Polq
|
APN |
16 |
36,880,737 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02692:Polq
|
APN |
16 |
36,880,989 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02717:Polq
|
APN |
16 |
36,843,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02937:Polq
|
APN |
16 |
36,833,471 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02959:Polq
|
APN |
16 |
36,906,928 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03086:Polq
|
APN |
16 |
36,911,411 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03141:Polq
|
APN |
16 |
36,837,720 (GRCm39) |
splice site |
probably benign |
|
IGL03302:Polq
|
APN |
16 |
36,892,134 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03393:Polq
|
APN |
16 |
36,865,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013_Polq_667
|
UTSW |
16 |
36,882,201 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4238_Polq_233
|
UTSW |
16 |
36,833,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4280_polq_867
|
UTSW |
16 |
36,902,419 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Polq
|
UTSW |
16 |
36,882,181 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4403001:Polq
|
UTSW |
16 |
36,880,949 (GRCm39) |
missense |
probably benign |
0.00 |
R0013:Polq
|
UTSW |
16 |
36,882,201 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0082:Polq
|
UTSW |
16 |
36,837,619 (GRCm39) |
missense |
probably benign |
0.01 |
R0212:Polq
|
UTSW |
16 |
36,887,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R0387:Polq
|
UTSW |
16 |
36,909,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0387:Polq
|
UTSW |
16 |
36,849,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0427:Polq
|
UTSW |
16 |
36,882,355 (GRCm39) |
nonsense |
probably null |
|
R0454:Polq
|
UTSW |
16 |
36,855,252 (GRCm39) |
missense |
probably damaging |
0.98 |
R0622:Polq
|
UTSW |
16 |
36,881,355 (GRCm39) |
missense |
probably benign |
0.02 |
R0848:Polq
|
UTSW |
16 |
36,882,492 (GRCm39) |
missense |
probably benign |
0.08 |
R1142:Polq
|
UTSW |
16 |
36,833,579 (GRCm39) |
missense |
probably damaging |
0.98 |
R1218:Polq
|
UTSW |
16 |
36,849,808 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1331:Polq
|
UTSW |
16 |
36,862,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Polq
|
UTSW |
16 |
36,882,857 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1424:Polq
|
UTSW |
16 |
36,906,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1644:Polq
|
UTSW |
16 |
36,880,626 (GRCm39) |
missense |
probably damaging |
0.96 |
R1777:Polq
|
UTSW |
16 |
36,880,586 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1820:Polq
|
UTSW |
16 |
36,849,780 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1854:Polq
|
UTSW |
16 |
36,882,471 (GRCm39) |
missense |
probably benign |
0.01 |
R1880:Polq
|
UTSW |
16 |
36,906,954 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1932:Polq
|
UTSW |
16 |
36,882,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2008:Polq
|
UTSW |
16 |
36,882,844 (GRCm39) |
missense |
probably damaging |
0.96 |
R2014:Polq
|
UTSW |
16 |
36,898,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R2026:Polq
|
UTSW |
16 |
36,883,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2178:Polq
|
UTSW |
16 |
36,883,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Polq
|
UTSW |
16 |
36,882,459 (GRCm39) |
missense |
probably benign |
0.03 |
R2266:Polq
|
UTSW |
16 |
36,882,515 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2305:Polq
|
UTSW |
16 |
36,882,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R2370:Polq
|
UTSW |
16 |
36,894,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Polq
|
UTSW |
16 |
36,832,304 (GRCm39) |
missense |
unknown |
|
R2517:Polq
|
UTSW |
16 |
36,909,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R2697:Polq
|
UTSW |
16 |
36,862,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R2858:Polq
|
UTSW |
16 |
36,883,115 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3436:Polq
|
UTSW |
16 |
36,882,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R3437:Polq
|
UTSW |
16 |
36,882,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R3699:Polq
|
UTSW |
16 |
36,862,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R3838:Polq
|
UTSW |
16 |
36,898,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Polq
|
UTSW |
16 |
36,894,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R4050:Polq
|
UTSW |
16 |
36,913,182 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4172:Polq
|
UTSW |
16 |
36,881,120 (GRCm39) |
missense |
probably benign |
0.02 |
R4238:Polq
|
UTSW |
16 |
36,833,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4240:Polq
|
UTSW |
16 |
36,833,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4280:Polq
|
UTSW |
16 |
36,902,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R4296:Polq
|
UTSW |
16 |
36,881,663 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4360:Polq
|
UTSW |
16 |
36,880,701 (GRCm39) |
missense |
probably benign |
0.00 |
R4373:Polq
|
UTSW |
16 |
36,833,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4375:Polq
|
UTSW |
16 |
36,833,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4376:Polq
|
UTSW |
16 |
36,833,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Polq
|
UTSW |
16 |
36,868,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Polq
|
UTSW |
16 |
36,868,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Polq
|
UTSW |
16 |
36,868,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4543:Polq
|
UTSW |
16 |
36,881,147 (GRCm39) |
missense |
probably benign |
0.43 |
R4633:Polq
|
UTSW |
16 |
36,868,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Polq
|
UTSW |
16 |
36,862,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R4834:Polq
|
UTSW |
16 |
36,848,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Polq
|
UTSW |
16 |
36,869,145 (GRCm39) |
critical splice donor site |
probably null |
|
R4842:Polq
|
UTSW |
16 |
36,869,145 (GRCm39) |
critical splice donor site |
probably null |
|
R4937:Polq
|
UTSW |
16 |
36,848,274 (GRCm39) |
missense |
probably benign |
0.01 |
R4955:Polq
|
UTSW |
16 |
36,881,444 (GRCm39) |
missense |
probably benign |
0.32 |
R4992:Polq
|
UTSW |
16 |
36,881,524 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5008:Polq
|
UTSW |
16 |
36,882,749 (GRCm39) |
missense |
probably benign |
|
R5221:Polq
|
UTSW |
16 |
36,862,540 (GRCm39) |
missense |
probably damaging |
0.98 |
R5254:Polq
|
UTSW |
16 |
36,909,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R5292:Polq
|
UTSW |
16 |
36,881,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Polq
|
UTSW |
16 |
36,903,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R5480:Polq
|
UTSW |
16 |
36,833,652 (GRCm39) |
splice site |
probably benign |
|
R5552:Polq
|
UTSW |
16 |
36,914,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5591:Polq
|
UTSW |
16 |
36,832,247 (GRCm39) |
utr 5 prime |
probably benign |
|
R5653:Polq
|
UTSW |
16 |
36,860,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R5708:Polq
|
UTSW |
16 |
36,881,380 (GRCm39) |
missense |
probably damaging |
0.98 |
R5754:Polq
|
UTSW |
16 |
36,837,625 (GRCm39) |
missense |
probably benign |
|
R5757:Polq
|
UTSW |
16 |
36,907,043 (GRCm39) |
missense |
probably benign |
0.01 |
R5764:Polq
|
UTSW |
16 |
36,837,706 (GRCm39) |
missense |
probably damaging |
0.97 |
R6019:Polq
|
UTSW |
16 |
36,882,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Polq
|
UTSW |
16 |
36,866,174 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6177:Polq
|
UTSW |
16 |
36,892,071 (GRCm39) |
missense |
probably damaging |
0.98 |
R6307:Polq
|
UTSW |
16 |
36,837,718 (GRCm39) |
critical splice donor site |
probably null |
|
R6499:Polq
|
UTSW |
16 |
36,881,189 (GRCm39) |
missense |
probably benign |
0.03 |
R6520:Polq
|
UTSW |
16 |
36,880,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6598:Polq
|
UTSW |
16 |
36,881,993 (GRCm39) |
missense |
probably benign |
0.39 |
R6694:Polq
|
UTSW |
16 |
36,835,535 (GRCm39) |
missense |
probably null |
0.99 |
R6788:Polq
|
UTSW |
16 |
36,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7104:Polq
|
UTSW |
16 |
36,909,715 (GRCm39) |
nonsense |
probably null |
|
R7159:Polq
|
UTSW |
16 |
36,883,215 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7222:Polq
|
UTSW |
16 |
36,906,995 (GRCm39) |
nonsense |
probably null |
|
R7340:Polq
|
UTSW |
16 |
36,881,288 (GRCm39) |
missense |
probably benign |
0.00 |
R7361:Polq
|
UTSW |
16 |
36,880,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7384:Polq
|
UTSW |
16 |
36,849,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Polq
|
UTSW |
16 |
36,880,706 (GRCm39) |
missense |
probably benign |
0.00 |
R7509:Polq
|
UTSW |
16 |
36,880,705 (GRCm39) |
missense |
probably benign |
|
R7575:Polq
|
UTSW |
16 |
36,911,496 (GRCm39) |
missense |
probably benign |
0.00 |
R7785:Polq
|
UTSW |
16 |
36,848,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7787:Polq
|
UTSW |
16 |
36,837,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7891:Polq
|
UTSW |
16 |
36,848,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R7898:Polq
|
UTSW |
16 |
36,865,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R7917:Polq
|
UTSW |
16 |
36,885,650 (GRCm39) |
missense |
probably benign |
0.08 |
R7940:Polq
|
UTSW |
16 |
36,881,004 (GRCm39) |
missense |
probably benign |
0.27 |
R8028:Polq
|
UTSW |
16 |
36,881,678 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8114:Polq
|
UTSW |
16 |
36,862,577 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8144:Polq
|
UTSW |
16 |
36,849,846 (GRCm39) |
missense |
probably benign |
0.01 |
R8288:Polq
|
UTSW |
16 |
36,848,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R8301:Polq
|
UTSW |
16 |
36,882,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Polq
|
UTSW |
16 |
36,892,133 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8348:Polq
|
UTSW |
16 |
36,837,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8448:Polq
|
UTSW |
16 |
36,837,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8815:Polq
|
UTSW |
16 |
36,853,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R8843:Polq
|
UTSW |
16 |
36,832,280 (GRCm39) |
missense |
unknown |
|
R8878:Polq
|
UTSW |
16 |
36,860,869 (GRCm39) |
missense |
probably benign |
0.02 |
R9016:Polq
|
UTSW |
16 |
36,843,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Polq
|
UTSW |
16 |
36,865,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Polq
|
UTSW |
16 |
36,869,011 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9352:Polq
|
UTSW |
16 |
36,862,252 (GRCm39) |
missense |
probably damaging |
0.98 |
R9398:Polq
|
UTSW |
16 |
36,881,394 (GRCm39) |
missense |
probably benign |
0.02 |
R9403:Polq
|
UTSW |
16 |
36,882,215 (GRCm39) |
missense |
probably benign |
0.00 |
R9489:Polq
|
UTSW |
16 |
36,843,173 (GRCm39) |
missense |
probably benign |
0.00 |
R9605:Polq
|
UTSW |
16 |
36,843,173 (GRCm39) |
missense |
probably benign |
0.00 |
R9664:Polq
|
UTSW |
16 |
36,848,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R9801:Polq
|
UTSW |
16 |
36,913,190 (GRCm39) |
missense |
probably damaging |
1.00 |
X0060:Polq
|
UTSW |
16 |
36,837,599 (GRCm39) |
nonsense |
probably null |
|
Z1176:Polq
|
UTSW |
16 |
36,862,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTAAGGGGATGCTTGATGCAGACAC -3'
(R):5'- GCAGGTCAAAGGGCAGACTCTATG -3'
Sequencing Primer
(F):5'- CACGTTTGTCTGAGGTTTCCAAG -3'
(R):5'- AGGGCAGACTCTATGCATTC -3'
|
Posted On |
2013-06-12 |