Incidental Mutation 'R5460:Patl1'
ID |
432997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Patl1
|
Ensembl Gene |
ENSMUSG00000046139 |
Gene Name |
protein associated with topoisomerase II homolog 1 (yeast) |
Synonyms |
Pat1b |
MMRRC Submission |
042849-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.570)
|
Stock # |
R5460 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11889763-11922455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 11913082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 542
(R542C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061618]
|
AlphaFold |
Q3TC46 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061618
AA Change: R542C
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000060398 Gene: ENSMUSG00000046139 AA Change: R542C
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: ENSMUST00000104039
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
A |
13: 111,392,238 (GRCm39) |
M191K |
probably benign |
Het |
Actn1 |
T |
C |
12: 80,230,342 (GRCm39) |
N304S |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adamtsl2 |
T |
A |
2: 26,985,410 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,572,377 (GRCm39) |
E4928G |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,673,713 (GRCm39) |
C3103S |
probably benign |
Het |
Appl2 |
T |
A |
10: 83,438,696 (GRCm39) |
I578F |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,121,282 (GRCm39) |
S982P |
probably benign |
Het |
Brd10 |
G |
T |
19: 29,732,250 (GRCm39) |
P254Q |
probably damaging |
Het |
Capn7 |
T |
C |
14: 31,090,160 (GRCm39) |
|
probably null |
Het |
Cd200r3 |
A |
G |
16: 44,778,093 (GRCm39) |
T166A |
possibly damaging |
Het |
Dctn6 |
C |
T |
8: 34,572,135 (GRCm39) |
|
probably null |
Het |
Duxf4 |
G |
A |
10: 58,071,717 (GRCm39) |
H166Y |
possibly damaging |
Het |
Fam114a1 |
T |
A |
5: 65,185,776 (GRCm39) |
F366I |
probably damaging |
Het |
Fam98b |
A |
T |
2: 117,089,737 (GRCm39) |
S85C |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,830,463 (GRCm39) |
N4344Y |
probably damaging |
Het |
Fhl3 |
T |
G |
4: 124,599,796 (GRCm39) |
C92W |
probably damaging |
Het |
Flrt1 |
T |
C |
19: 7,073,105 (GRCm39) |
T481A |
probably damaging |
Het |
Gng2 |
G |
T |
14: 19,941,426 (GRCm39) |
N5K |
probably benign |
Het |
Iqcm |
A |
T |
8: 76,441,417 (GRCm39) |
D230V |
probably benign |
Het |
Limk2 |
T |
C |
11: 3,302,332 (GRCm39) |
I176V |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,698,847 (GRCm39) |
|
probably null |
Het |
Maml1 |
T |
C |
11: 50,157,180 (GRCm39) |
T332A |
probably benign |
Het |
Matcap2 |
T |
C |
9: 22,351,216 (GRCm39) |
F453L |
probably benign |
Het |
Mbd1 |
T |
C |
18: 74,402,581 (GRCm39) |
F28L |
probably benign |
Het |
Morf4l1 |
G |
A |
9: 89,977,183 (GRCm39) |
T246I |
probably benign |
Het |
Mtres1 |
T |
C |
10: 43,408,861 (GRCm39) |
K94R |
probably benign |
Het |
Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
Ndufaf1 |
T |
G |
2: 119,490,958 (GRCm39) |
D34A |
probably benign |
Het |
Or4a77 |
T |
A |
2: 89,487,414 (GRCm39) |
I124F |
probably damaging |
Het |
Or4c114 |
C |
T |
2: 88,905,208 (GRCm39) |
V76I |
probably benign |
Het |
Pcdha2 |
T |
C |
18: 37,072,474 (GRCm39) |
V35A |
probably damaging |
Het |
Phf11b |
G |
A |
14: 59,568,713 (GRCm39) |
P67S |
probably benign |
Het |
Plxnd1 |
T |
C |
6: 115,934,609 (GRCm39) |
I1775V |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,771,386 (GRCm39) |
T2552S |
probably damaging |
Het |
Scai |
A |
T |
2: 38,973,585 (GRCm39) |
L52H |
probably damaging |
Het |
Scai |
G |
C |
2: 38,973,586 (GRCm39) |
L52V |
probably damaging |
Het |
Stag1 |
A |
T |
9: 100,838,506 (GRCm39) |
|
probably null |
Het |
Tgs1 |
A |
G |
4: 3,586,170 (GRCm39) |
K349R |
probably benign |
Het |
Tpbgl |
T |
C |
7: 99,274,961 (GRCm39) |
I299V |
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,258,241 (GRCm39) |
T1325A |
probably benign |
Het |
Ubxn11 |
A |
T |
4: 133,852,396 (GRCm39) |
E210D |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,453,271 (GRCm39) |
I1840V |
probably benign |
Het |
Zfp74 |
A |
T |
7: 29,635,316 (GRCm39) |
F131I |
probably benign |
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 |
IGL03193:Patl1
|
APN |
19 |
11,898,204 (GRCm39) |
missense |
possibly damaging |
0.49 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCCCCTACATTTAAAGGAGCAC -3'
(R):5'- GCTAAGCTTATGAATAGTTGGACAGAG -3'
Sequencing Primer
(F):5'- TACTCTGGTCCTAACCTGC -3'
(R):5'- AATCCCAAGTATGTGGAGTTTTG -3'
|
Posted On |
2016-10-06 |