Incidental Mutation 'IGL03193:Patl1'
| ID |
412698 |
| 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 # |
IGL03193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11889763-11922455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11898204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 127
(D127E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061618]
|
| AlphaFold |
Q3TC46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061618
AA Change: D127E
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: D127E
| 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: ENSMUST00000198985
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef12 |
T |
C |
9: 42,903,829 (GRCm39) |
|
probably benign |
Het |
| Bmper |
C |
A |
9: 23,277,544 (GRCm39) |
H211Q |
possibly damaging |
Het |
| C130074G19Rik |
A |
T |
1: 184,614,899 (GRCm39) |
L97Q |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,492,626 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,764 (GRCm39) |
Y30H |
probably benign |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,846 (GRCm39) |
D239V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,925,965 (GRCm39) |
Y3723F |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,912,263 (GRCm39) |
|
probably benign |
Het |
| Gm382 |
G |
A |
X: 125,971,321 (GRCm39) |
A1169T |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,195,020 (GRCm39) |
L696P |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,298,079 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,309,962 (GRCm39) |
L1104P |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,279,369 (GRCm39) |
V945A |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,740,264 (GRCm39) |
F577L |
probably damaging |
Het |
| Ndst2 |
A |
T |
14: 20,779,917 (GRCm39) |
S108T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Neo1 |
T |
C |
9: 58,815,767 (GRCm39) |
Y836C |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,251 (GRCm39) |
L246P |
probably damaging |
Het |
| Or52n2 |
A |
G |
7: 104,542,263 (GRCm39) |
C191R |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,924,163 (GRCm39) |
S471P |
possibly damaging |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,376 (GRCm39) |
S284T |
possibly damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,080 (GRCm39) |
N75K |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,963 (GRCm39) |
M265L |
probably benign |
Het |
| Slc9a2 |
G |
T |
1: 40,795,431 (GRCm39) |
V511L |
probably benign |
Het |
| Tm9sf5 |
A |
G |
X: 56,463,503 (GRCm39) |
|
probably benign |
Het |
| Tnp1 |
G |
A |
1: 73,054,923 (GRCm39) |
R34W |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,315,831 (GRCm39) |
D2036G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,803,236 (GRCm39) |
V893A |
possibly damaging |
Het |
| Tshb |
T |
C |
3: 102,685,515 (GRCm39) |
Y38C |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,484 (GRCm39) |
S148T |
possibly damaging |
Het |
|
| Other mutations in Patl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Patl1
|
APN |
19 |
11,907,251 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation