Incidental Mutation 'R5855:Patl1'
ID |
454888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Patl1
|
Ensembl Gene |
ENSMUSG00000046139 |
Gene Name |
protein associated with topoisomerase II homolog 1 (yeast) |
Synonyms |
Pat1b |
MMRRC Submission |
043229-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.552)
|
Stock # |
R5855 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11889763-11922455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11898880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 192
(I192V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061618]
|
AlphaFold |
Q3TC46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061618
AA Change: I192V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000060398 Gene: ENSMUSG00000046139 AA Change: I192V
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: ENSMUST00000198985
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
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 |
|
R5460:Patl1
|
UTSW |
19 |
11,913,082 (GRCm39) |
missense |
possibly damaging |
0.80 |
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'- AAGGATGACTTTTACTGAGTGTGAG -3'
(R):5'- TCTGCTAATGTACCCGGCAG -3'
Sequencing Primer
(F):5'- ACATCACAAGTAATTTCTCTGTATCG -3'
(R):5'- TTTCTCCCCCAGTTAAAAGGTAGCAG -3'
|
Posted On |
2017-02-10 |