Incidental Mutation 'R2859:Patl1'
| ID |
252683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Patl1
|
| Ensembl Gene |
ENSMUSG00000046139 |
| Gene Name |
protein associated with topoisomerase II homolog 1 (yeast) |
| Synonyms |
Pat1b |
| MMRRC Submission |
040449-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R2859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
11889763-11922455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11901195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 282
(F282L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061618]
|
| AlphaFold |
Q3TC46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061618
AA Change: F282L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: F282L
| 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
|
| Meta Mutation Damage Score |
0.1442 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,500,288 (GRCm39) |
Y1301C |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,174,112 (GRCm39) |
S34P |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
| Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
| Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itk |
T |
G |
11: 46,235,662 (GRCm39) |
|
probably benign |
Het |
| Mastl |
C |
A |
2: 23,029,979 (GRCm39) |
C249F |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,142 (GRCm39) |
S182P |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,808 (GRCm39) |
I231T |
probably damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,165 (GRCm39) |
T178A |
possibly damaging |
Het |
| Phospho2 |
T |
C |
2: 69,626,195 (GRCm39) |
V117A |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,008,906 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
| Rbm17 |
A |
G |
2: 11,595,515 (GRCm39) |
F230S |
possibly damaging |
Het |
| Robo3 |
C |
A |
9: 37,339,400 (GRCm39) |
G196* |
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,948,149 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Thbs4 |
A |
G |
13: 92,927,216 (GRCm39) |
F91S |
probably benign |
Het |
| Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,942,495 (GRCm39) |
L255P |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,268,455 (GRCm39) |
I5F |
possibly damaging |
Het |
| Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,309 (GRCm39) |
L263P |
probably damaging |
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 |
|
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'- GCCTACAGTTTGCTGAACCC -3'
(R):5'- CAATCGATCATCAGAGGCATGG -3'
Sequencing Primer
(F):5'- CTATGTTCCCAACACGTAGGAGG -3'
(R):5'- CGATCATCAGAGGCATGGTTTTATAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation