Incidental Mutation 'IGL02990:Patl2'
| ID |
406905 |
| 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: 0.088)
|
| Stock # |
IGL02990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
122120108-122186189 bp(-) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 122124497 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028665]
|
| AlphaFold |
A2ARM1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028665
|
| SMART Domains |
Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
T |
11: 69,163,206 (GRCm38) |
V205F |
probably benign |
Het |
| Ampd3 |
T |
C |
7: 110,807,963 (GRCm38) |
|
probably benign |
Het |
| Arhgef18 |
G |
A |
8: 3,444,904 (GRCm38) |
V388I |
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,294,740 (GRCm38) |
V169I |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,847,409 (GRCm38) |
L1328I |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,169,718 (GRCm38) |
|
probably null |
Het |
| Cluh |
G |
A |
11: 74,667,765 (GRCm38) |
|
probably null |
Het |
| Cpsf7 |
C |
A |
19: 10,531,795 (GRCm38) |
N23K |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 115,121,749 (GRCm38) |
F191L |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,509,973 (GRCm38) |
T216A |
probably benign |
Het |
| Dirc2 |
C |
A |
16: 35,735,491 (GRCm38) |
V200F |
possibly damaging |
Het |
| Drosha |
C |
T |
15: 12,827,267 (GRCm38) |
|
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,272,989 (GRCm38) |
S24P |
probably damaging |
Het |
| Gm11733 |
A |
T |
11: 117,486,983 (GRCm38) |
|
probably null |
Het |
| Hapln1 |
A |
C |
13: 89,601,606 (GRCm38) |
Y90S |
probably benign |
Het |
| Igf2r |
C |
A |
17: 12,710,746 (GRCm38) |
|
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,831,247 (GRCm38) |
|
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,705,986 (GRCm38) |
L1084H |
probably benign |
Het |
| Kif1a |
T |
C |
1: 93,039,263 (GRCm38) |
D1155G |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,854,333 (GRCm38) |
M958V |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,441,396 (GRCm38) |
V4064A |
possibly damaging |
Het |
| Mau2 |
A |
G |
8: 70,022,255 (GRCm38) |
|
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,123,711 (GRCm38) |
|
probably benign |
Het |
| Myo15 |
A |
G |
11: 60,479,440 (GRCm38) |
T1009A |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,276,403 (GRCm38) |
|
probably null |
Het |
| Neil2 |
G |
T |
14: 63,191,809 (GRCm38) |
H12N |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,142,096 (GRCm38) |
E412G |
probably damaging |
Het |
| Olfr114 |
C |
T |
17: 37,589,668 (GRCm38) |
M228I |
probably benign |
Het |
| Olfr1220 |
T |
C |
2: 89,097,129 (GRCm38) |
Y266C |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,522,963 (GRCm38) |
H1642R |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,643,023 (GRCm38) |
I199T |
possibly damaging |
Het |
| Prom2 |
T |
A |
2: 127,528,814 (GRCm38) |
T817S |
probably benign |
Het |
| Slc9b1 |
A |
G |
3: 135,394,983 (GRCm38) |
|
probably null |
Het |
| Sv2c |
A |
T |
13: 96,088,378 (GRCm38) |
I141K |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,141,104 (GRCm38) |
I57F |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 50,868,246 (GRCm38) |
S106P |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,957,758 (GRCm38) |
D319G |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,230,236 (GRCm38) |
D461N |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 88,055,879 (GRCm38) |
L133S |
probably damaging |
Het |
| Usf2 |
T |
G |
7: 30,955,307 (GRCm38) |
Q161P |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,258,608 (GRCm38) |
T154A |
probably benign |
Het |
| Vmn2r95 |
C |
A |
17: 18,452,036 (GRCm38) |
Y678* |
probably null |
Het |
|
| Other mutations in Patl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Patl2
|
APN |
2 |
122,123,810 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01780:Patl2
|
APN |
2 |
122,121,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02604:Patl2
|
APN |
2 |
122,125,333 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02713:Patl2
|
APN |
2 |
122,125,847 (GRCm38) |
missense |
probably benign |
0.01 |
|
FR4304:Patl2
|
UTSW |
2 |
122,126,135 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Patl2
|
UTSW |
2 |
122,126,135 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Patl2
|
UTSW |
2 |
122,126,145 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Patl2
|
UTSW |
2 |
122,126,144 (GRCm38) |
nonsense |
probably null |
|
|
FR4737:Patl2
|
UTSW |
2 |
122,126,136 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Patl2
|
UTSW |
2 |
122,126,144 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Patl2
|
UTSW |
2 |
122,126,141 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Patl2
|
UTSW |
2 |
122,126,139 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Patl2
|
UTSW |
2 |
122,126,145 (GRCm38) |
small insertion |
probably benign |
|
|
R0001:Patl2
|
UTSW |
2 |
122,125,710 (GRCm38) |
splice site |
probably benign |
|
|
R0002:Patl2
|
UTSW |
2 |
122,125,710 (GRCm38) |
splice site |
probably benign |
|
|
R0540:Patl2
|
UTSW |
2 |
122,126,669 (GRCm38) |
missense |
probably benign |
|
|
R0570:Patl2
|
UTSW |
2 |
122,125,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0607:Patl2
|
UTSW |
2 |
122,126,669 (GRCm38) |
missense |
probably benign |
|
|
R1463:Patl2
|
UTSW |
2 |
122,123,735 (GRCm38) |
missense |
probably benign |
0.38 |
|
R2992:Patl2
|
UTSW |
2 |
122,125,754 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4329:Patl2
|
UTSW |
2 |
122,127,537 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4583:Patl2
|
UTSW |
2 |
122,126,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4737:Patl2
|
UTSW |
2 |
122,125,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4965:Patl2
|
UTSW |
2 |
122,128,848 (GRCm38) |
nonsense |
probably null |
|
|
R5091:Patl2
|
UTSW |
2 |
122,123,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5256:Patl2
|
UTSW |
2 |
122,128,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5450:Patl2
|
UTSW |
2 |
122,125,281 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5990:Patl2
|
UTSW |
2 |
122,124,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6028:Patl2
|
UTSW |
2 |
122,126,137 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6107:Patl2
|
UTSW |
2 |
122,127,486 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6597:Patl2
|
UTSW |
2 |
122,186,164 (GRCm38) |
start gained |
probably benign |
|
|
R6969:Patl2
|
UTSW |
2 |
122,128,929 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7131:Patl2
|
UTSW |
2 |
122,121,782 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7436:Patl2
|
UTSW |
2 |
122,127,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7718:Patl2
|
UTSW |
2 |
122,126,774 (GRCm38) |
splice site |
probably null |
|
|
R7852:Patl2
|
UTSW |
2 |
122,179,109 (GRCm38) |
unclassified |
probably benign |
|
|
R8397:Patl2
|
UTSW |
2 |
122,125,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9515:Patl2
|
UTSW |
2 |
122,124,893 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9699:Patl2
|
UTSW |
2 |
122,125,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9766:Patl2
|
UTSW |
2 |
122,123,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation