Incidental Mutation 'IGL01780:Patl2'
| ID |
154162 |
| 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 # |
IGL01780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121950589-122016670 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121952327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 468
(S468R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028665]
[ENSMUST00000036450]
|
| AlphaFold |
A2ARM1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028665
AA Change: S468R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: S468R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036450
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1305 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
|
low complexity region
|
1772 |
1784 |
N/A |
INTRINSIC |
|
Pfam:Spatacsin_C
|
2082 |
2374 |
1.1e-105 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135847
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
| Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
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 |
|
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 |
2014-02-04 |
Incidental Mutation