Incidental Mutation 'IGL02713:Patl2'
ID |
304647 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Patl2
|
Ensembl Gene |
ENSMUSG00000027233 |
Gene Name |
protein associated with topoisomerase II homolog 2 (yeast) |
Synonyms |
Pat1a, 4930424G05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
IGL02713
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121950589-122016670 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121956328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 179
(S179P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028665]
|
AlphaFold |
A2ARM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028665
AA Change: S179P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000028665 Gene: ENSMUSG00000027233 AA Change: S179P
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
41 |
N/A |
INTRINSIC |
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
Pfam:PAT1
|
247 |
490 |
6.7e-12 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,992 (GRCm39) |
T1588A |
possibly damaging |
Het |
Apeh |
A |
T |
9: 107,962,871 (GRCm39) |
L700Q |
probably damaging |
Het |
Arid1b |
T |
C |
17: 5,393,286 (GRCm39) |
I2272T |
probably damaging |
Het |
Best3 |
T |
G |
10: 116,860,434 (GRCm39) |
F565V |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,319 (GRCm39) |
N521S |
probably benign |
Het |
Cd209f |
T |
A |
8: 4,153,732 (GRCm39) |
R191S |
probably benign |
Het |
Clec4e |
A |
T |
6: 123,263,263 (GRCm39) |
Y63* |
probably null |
Het |
Cracdl |
C |
A |
1: 37,663,218 (GRCm39) |
K893N |
possibly damaging |
Het |
Cyp26c1 |
C |
T |
19: 37,681,667 (GRCm39) |
T490M |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,872,945 (GRCm39) |
H29Q |
probably benign |
Het |
Cyp2d10 |
A |
C |
15: 82,290,283 (GRCm39) |
|
probably benign |
Het |
Dgat1 |
C |
A |
15: 76,387,734 (GRCm39) |
R291L |
probably damaging |
Het |
Dyrk1a |
C |
A |
16: 94,486,204 (GRCm39) |
|
probably benign |
Het |
Esp4 |
T |
C |
17: 40,913,297 (GRCm39) |
F55L |
probably benign |
Het |
Fam227a |
G |
A |
15: 79,520,997 (GRCm39) |
|
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,410,178 (GRCm39) |
Y37H |
probably damaging |
Het |
Grsf1 |
A |
T |
5: 88,820,589 (GRCm39) |
I64K |
probably damaging |
Het |
Itga6 |
C |
T |
2: 71,647,057 (GRCm39) |
T89I |
possibly damaging |
Het |
Jph2 |
T |
C |
2: 163,217,837 (GRCm39) |
T280A |
probably damaging |
Het |
Lipm |
A |
G |
19: 34,078,570 (GRCm39) |
M1V |
probably null |
Het |
Nbeal1 |
C |
T |
1: 60,274,396 (GRCm39) |
A513V |
possibly damaging |
Het |
Or10a3 |
G |
A |
7: 108,480,060 (GRCm39) |
T251I |
probably damaging |
Het |
Or10a48 |
A |
T |
7: 108,424,801 (GRCm39) |
M135K |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,682,553 (GRCm39) |
I121F |
possibly damaging |
Het |
Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
Or8b101 |
C |
T |
9: 38,020,623 (GRCm39) |
P214S |
probably damaging |
Het |
Orc6 |
A |
G |
8: 86,034,215 (GRCm39) |
E146G |
probably benign |
Het |
Pdzd8 |
C |
A |
19: 59,333,890 (GRCm39) |
G44C |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,253,938 (GRCm39) |
|
probably benign |
Het |
Ppp4r3b |
T |
G |
11: 29,138,445 (GRCm39) |
H264Q |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,468,807 (GRCm39) |
I1409T |
possibly damaging |
Het |
Pum1 |
T |
A |
4: 130,493,323 (GRCm39) |
I842N |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sgca |
T |
A |
11: 94,862,131 (GRCm39) |
N174Y |
probably damaging |
Het |
Slc7a14 |
A |
T |
3: 31,311,912 (GRCm39) |
L36Q |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stard13 |
G |
A |
5: 150,965,651 (GRCm39) |
Q935* |
probably null |
Het |
Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
Sv2b |
A |
T |
7: 74,773,911 (GRCm39) |
L520Q |
possibly damaging |
Het |
Tmem26 |
T |
C |
10: 68,587,125 (GRCm39) |
F191S |
probably damaging |
Het |
|
Other mutations in Patl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01293:Patl2
|
APN |
2 |
121,954,291 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01780:Patl2
|
APN |
2 |
121,952,327 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02604:Patl2
|
APN |
2 |
121,955,814 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02990:Patl2
|
APN |
2 |
121,954,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
FR4304:Patl2
|
UTSW |
2 |
121,956,616 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Patl2
|
UTSW |
2 |
121,956,616 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Patl2
|
UTSW |
2 |
121,956,626 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Patl2
|
UTSW |
2 |
121,956,625 (GRCm39) |
nonsense |
probably null |
|
FR4737:Patl2
|
UTSW |
2 |
121,956,617 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Patl2
|
UTSW |
2 |
121,956,625 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Patl2
|
UTSW |
2 |
121,956,622 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Patl2
|
UTSW |
2 |
121,956,620 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Patl2
|
UTSW |
2 |
121,956,626 (GRCm39) |
small insertion |
probably benign |
|
R0001:Patl2
|
UTSW |
2 |
121,956,191 (GRCm39) |
splice site |
probably benign |
|
R0002:Patl2
|
UTSW |
2 |
121,956,191 (GRCm39) |
splice site |
probably benign |
|
R0540:Patl2
|
UTSW |
2 |
121,957,150 (GRCm39) |
missense |
probably benign |
|
R0570:Patl2
|
UTSW |
2 |
121,955,789 (GRCm39) |
missense |
probably damaging |
0.99 |
R0607:Patl2
|
UTSW |
2 |
121,957,150 (GRCm39) |
missense |
probably benign |
|
R1463:Patl2
|
UTSW |
2 |
121,954,216 (GRCm39) |
missense |
probably benign |
0.38 |
R2992:Patl2
|
UTSW |
2 |
121,956,235 (GRCm39) |
missense |
probably damaging |
0.97 |
R4329:Patl2
|
UTSW |
2 |
121,958,018 (GRCm39) |
missense |
probably benign |
0.01 |
R4583:Patl2
|
UTSW |
2 |
121,957,226 (GRCm39) |
missense |
probably benign |
0.00 |
R4737:Patl2
|
UTSW |
2 |
121,955,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Patl2
|
UTSW |
2 |
121,959,329 (GRCm39) |
nonsense |
probably null |
|
R5091:Patl2
|
UTSW |
2 |
121,954,283 (GRCm39) |
missense |
probably benign |
0.01 |
R5256:Patl2
|
UTSW |
2 |
121,959,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R5450:Patl2
|
UTSW |
2 |
121,955,762 (GRCm39) |
missense |
probably benign |
0.00 |
R5990:Patl2
|
UTSW |
2 |
121,954,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Patl2
|
UTSW |
2 |
121,956,618 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6107:Patl2
|
UTSW |
2 |
121,957,967 (GRCm39) |
missense |
probably damaging |
0.98 |
R6597:Patl2
|
UTSW |
2 |
122,016,645 (GRCm39) |
start gained |
probably benign |
|
R6969:Patl2
|
UTSW |
2 |
121,959,410 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7131:Patl2
|
UTSW |
2 |
121,952,263 (GRCm39) |
critical splice donor site |
probably null |
|
R7436:Patl2
|
UTSW |
2 |
121,958,006 (GRCm39) |
missense |
probably benign |
0.00 |
R7718:Patl2
|
UTSW |
2 |
121,957,255 (GRCm39) |
splice site |
probably null |
|
R7852:Patl2
|
UTSW |
2 |
122,009,590 (GRCm39) |
unclassified |
probably benign |
|
R8397:Patl2
|
UTSW |
2 |
121,955,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Patl2
|
UTSW |
2 |
121,955,374 (GRCm39) |
missense |
probably benign |
0.09 |
R9699:Patl2
|
UTSW |
2 |
121,955,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9766:Patl2
|
UTSW |
2 |
121,954,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |