Incidental Mutation 'IGL00491:Patl1'
| ID |
5682 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Patl1
|
| Ensembl Gene |
ENSMUSG00000046139 |
| Gene Name |
protein associated with topoisomerase II homolog 1 (yeast) |
| Synonyms |
Pat1b |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
IGL00491
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11889763-11922455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11907251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 378
(N378K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061618]
|
| AlphaFold |
Q3TC46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061618
AA Change: N378K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: N378K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1sig__
|
8 |
111 |
2e-3 |
SMART |
|
low complexity region
|
211 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
380 |
N/A |
INTRINSIC |
|
Pfam:PAT1
|
465 |
726 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104039
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,171,113 (GRCm39) |
S1870Y |
possibly damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,753,235 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
A |
10: 61,699,784 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,448 (GRCm39) |
S417P |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 30,983,796 (GRCm39) |
Y4016H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,313,713 (GRCm39) |
V136A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,827 (GRCm39) |
T944A |
probably damaging |
Het |
| Gm10351 |
A |
T |
7: 42,749,217 (GRCm39) |
|
noncoding transcript |
Het |
| Mettl9 |
T |
A |
7: 120,651,336 (GRCm39) |
V17E |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,249,706 (GRCm39) |
V613A |
probably damaging |
Het |
| Nup54 |
T |
A |
5: 92,565,344 (GRCm39) |
I458L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,125,996 (GRCm39) |
N365D |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,752,657 (GRCm39) |
|
probably null |
Het |
| Polk |
A |
T |
13: 96,633,268 (GRCm39) |
D258E |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,741,777 (GRCm39) |
L417P |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,255 (GRCm39) |
I225V |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,317,231 (GRCm39) |
K463N |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,069,477 (GRCm39) |
D1019E |
probably damaging |
Het |
| Spock1 |
C |
A |
13: 57,704,619 (GRCm39) |
R116S |
possibly damaging |
Het |
| Stambp |
G |
T |
6: 83,533,280 (GRCm39) |
L328I |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,010,889 (GRCm39) |
C598R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,210,261 (GRCm39) |
|
probably benign |
Het |
| Tpra1 |
A |
G |
6: 88,887,390 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,800,418 (GRCm39) |
E544G |
probably damaging |
Het |
|
| Other mutations in Patl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Patl1
|
APN |
19 |
11,901,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02071:Patl1
|
APN |
19 |
11,917,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Patl1
|
APN |
19 |
11,914,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL02306:Patl1
|
APN |
19 |
11,920,250 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02468:Patl1
|
APN |
19 |
11,909,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Patl1
|
APN |
19 |
11,898,204 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0382:Patl1
|
UTSW |
19 |
11,902,596 (GRCm39) |
splice site |
probably null |
|
|
R1015:Patl1
|
UTSW |
19 |
11,897,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1871:Patl1
|
UTSW |
19 |
11,902,596 (GRCm39) |
splice site |
probably benign |
|
|
R1969:Patl1
|
UTSW |
19 |
11,898,782 (GRCm39) |
missense |
probably benign |
|
|
R2012:Patl1
|
UTSW |
19 |
11,917,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Patl1
|
UTSW |
19 |
11,909,511 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2859:Patl1
|
UTSW |
19 |
11,901,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Patl1
|
UTSW |
19 |
11,920,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Patl1
|
UTSW |
19 |
11,908,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Patl1
|
UTSW |
19 |
11,891,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Patl1
|
UTSW |
19 |
11,899,869 (GRCm39) |
missense |
probably benign |
|
|
R4830:Patl1
|
UTSW |
19 |
11,902,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5321:Patl1
|
UTSW |
19 |
11,898,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5322:Patl1
|
UTSW |
19 |
11,898,223 (GRCm39) |
nonsense |
probably null |
|
|
R5460:Patl1
|
UTSW |
19 |
11,913,082 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5855:Patl1
|
UTSW |
19 |
11,898,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5933:Patl1
|
UTSW |
19 |
11,917,136 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6020:Patl1
|
UTSW |
19 |
11,914,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Patl1
|
UTSW |
19 |
11,897,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Patl1
|
UTSW |
19 |
11,898,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7040:Patl1
|
UTSW |
19 |
11,907,318 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7387:Patl1
|
UTSW |
19 |
11,911,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8754:Patl1
|
UTSW |
19 |
11,899,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8936:Patl1
|
UTSW |
19 |
11,891,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Patl1
|
UTSW |
19 |
11,898,760 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9088:Patl1
|
UTSW |
19 |
11,920,289 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9106:Patl1
|
UTSW |
19 |
11,908,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9309:Patl1
|
UTSW |
19 |
11,913,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9431:Patl1
|
UTSW |
19 |
11,898,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Patl1
|
UTSW |
19 |
11,897,728 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2012-04-20 |
Incidental Mutation