Incidental Mutation 'IGL01293:Patl2'
ID |
72986 |
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 # |
IGL01293
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121950589-122016670 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121954291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 427
(T427A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028665]
|
AlphaFold |
A2ARM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028665
AA Change: T427A
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000028665 Gene: ENSMUSG00000027233 AA Change: T427A
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,190,226 (GRCm39) |
V25A |
probably benign |
Het |
Aadacl4fm5 |
G |
T |
4: 144,504,159 (GRCm39) |
H331N |
probably benign |
Het |
Aagab |
T |
C |
9: 63,543,751 (GRCm39) |
V235A |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,890,836 (GRCm39) |
V905A |
probably benign |
Het |
Atrx |
A |
G |
X: 104,919,801 (GRCm39) |
S641P |
probably benign |
Het |
Bnc1 |
T |
C |
7: 81,624,237 (GRCm39) |
E330G |
probably damaging |
Het |
Cenpq |
A |
T |
17: 41,244,067 (GRCm39) |
S4T |
possibly damaging |
Het |
Clvs1 |
T |
A |
4: 9,281,559 (GRCm39) |
M1K |
probably null |
Het |
Cul2 |
A |
G |
18: 3,419,426 (GRCm39) |
K196E |
probably damaging |
Het |
Cyp2d10 |
A |
T |
15: 82,287,210 (GRCm39) |
V471E |
possibly damaging |
Het |
Efhc2 |
T |
A |
X: 17,073,934 (GRCm39) |
I469L |
probably benign |
Het |
Fhod3 |
C |
T |
18: 25,153,709 (GRCm39) |
|
probably benign |
Het |
Gm1968 |
A |
G |
16: 29,777,632 (GRCm39) |
|
noncoding transcript |
Het |
Hpdl |
T |
A |
4: 116,678,141 (GRCm39) |
T107S |
possibly damaging |
Het |
Il1rl1 |
G |
A |
1: 40,485,376 (GRCm39) |
G276D |
possibly damaging |
Het |
Irgq |
A |
G |
7: 24,233,149 (GRCm39) |
D330G |
probably damaging |
Het |
Kdm4b |
A |
G |
17: 56,660,019 (GRCm39) |
D62G |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,107,632 (GRCm39) |
T793A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,610,340 (GRCm39) |
F691L |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,365,104 (GRCm39) |
G1654E |
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,224,086 (GRCm39) |
Y100F |
probably benign |
Het |
Ncapg |
A |
G |
5: 45,839,196 (GRCm39) |
N532S |
probably benign |
Het |
Nfkb1 |
T |
C |
3: 135,296,600 (GRCm39) |
D782G |
probably damaging |
Het |
Nthl1 |
G |
T |
17: 24,857,683 (GRCm39) |
C294F |
probably damaging |
Het |
Obp2b |
A |
G |
2: 25,627,719 (GRCm39) |
H45R |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,104,715 (GRCm39) |
E156G |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,886,308 (GRCm39) |
I2T |
probably benign |
Het |
Or7g29 |
C |
A |
9: 19,286,632 (GRCm39) |
A182S |
probably benign |
Het |
Otud6b |
A |
G |
4: 14,822,682 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
T |
A |
19: 59,288,218 (GRCm39) |
R1061W |
probably damaging |
Het |
Plk3 |
A |
T |
4: 116,990,194 (GRCm39) |
L137* |
probably null |
Het |
Rps6ka6 |
T |
C |
X: 110,360,059 (GRCm39) |
|
probably benign |
Het |
Shank1 |
T |
C |
7: 44,003,660 (GRCm39) |
V1784A |
possibly damaging |
Het |
Smc1b |
A |
T |
15: 85,016,099 (GRCm39) |
S14T |
probably damaging |
Het |
Sox4 |
C |
A |
13: 29,136,664 (GRCm39) |
R114L |
probably damaging |
Het |
Speg |
C |
T |
1: 75,364,746 (GRCm39) |
R221W |
probably damaging |
Het |
Tram1l1 |
T |
C |
3: 124,115,788 (GRCm39) |
V316A |
probably benign |
Het |
Virma |
G |
T |
4: 11,521,114 (GRCm39) |
K840N |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,394 (GRCm39) |
S203T |
probably damaging |
Het |
Wdr1 |
T |
C |
5: 38,686,886 (GRCm39) |
T293A |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,345,528 (GRCm39) |
P2590S |
possibly damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,516 (GRCm39) |
Y297C |
possibly damaging |
Het |
Zfp128 |
A |
G |
7: 12,625,351 (GRCm39) |
*573W |
probably null |
Het |
Zfp575 |
G |
A |
7: 24,285,182 (GRCm39) |
P153L |
probably damaging |
Het |
|
Other mutations in Patl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02713:Patl2
|
APN |
2 |
121,956,328 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2013-10-07 |