Incidental Mutation 'R1015:Patl1'
| ID |
96241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patl1
|
| Ensembl Gene |
ENSMUSG00000046139 |
| Gene Name |
protein associated with topoisomerase II homolog 1 (yeast) |
| Synonyms |
Pat1b |
| MMRRC Submission |
039119-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R1015 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11889763-11922455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11897737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061618]
|
| AlphaFold |
Q3TC46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061618
AA Change: V108A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: V108A
| 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: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,552,323 (GRCm39) |
V615A |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,896,543 (GRCm39) |
V108A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,843,802 (GRCm39) |
V53L |
probably benign |
Het |
| C8b |
A |
G |
4: 104,644,157 (GRCm39) |
K275E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,200,451 (GRCm39) |
N683I |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,710,375 (GRCm39) |
V1535A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,836,193 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,788,844 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,659,206 (GRCm39) |
H55Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,275,049 (GRCm39) |
T2915I |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,472,932 (GRCm39) |
D118V |
probably damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,063,356 (GRCm39) |
H359Y |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 941,687 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Kif27 |
T |
A |
13: 58,468,029 (GRCm39) |
K849N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,634,377 (GRCm39) |
D736E |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,735 (GRCm39) |
I311T |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,041,945 (GRCm39) |
V63D |
possibly damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,770,959 (GRCm39) |
C295* |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,436,622 (GRCm39) |
H754R |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,126 (GRCm39) |
Q767H |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,425 (GRCm39) |
K203E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,857,736 (GRCm39) |
L126F |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,726,409 (GRCm39) |
H35Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,440,183 (GRCm39) |
N412D |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,780,132 (GRCm39) |
Y36C |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,154 (GRCm39) |
I1246T |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,431 (GRCm39) |
T193A |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,426 (GRCm39) |
I200T |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,374,594 (GRCm39) |
E1847G |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,481,579 (GRCm39) |
V57I |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,697 (GRCm39) |
V1083A |
probably damaging |
Het |
| Slc3a2 |
C |
T |
19: 8,685,319 (GRCm39) |
W227* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,970,402 (GRCm39) |
I379M |
probably benign |
Het |
| Spata31e4 |
T |
G |
13: 50,855,664 (GRCm39) |
V434G |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,795 (GRCm39) |
K846E |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,946,155 (GRCm39) |
V326E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,612,748 (GRCm39) |
S462F |
possibly damaging |
Het |
| Trim66 |
C |
T |
7: 109,054,440 (GRCm39) |
V1257I |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,173 (GRCm39) |
Y627H |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,408 (GRCm39) |
L1058P |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,212 (GRCm39) |
S702G |
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 |
|
|
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 |
|
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'- GCTGAGTTGGAAGAGAAGCTACCTG -3'
(R):5'- AATGGTGTGGCTCTCAGACTTGAAC -3'
Sequencing Primer
(F):5'- AGAAGCTACCTGTGGCAGC -3'
(R):5'- acagtgtcttgttctgagcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation