Incidental Mutation 'IGL02999:2610008E11Rik'
ID |
407243 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
2610008E11Rik
|
Ensembl Gene |
ENSMUSG00000060301 |
Gene Name |
RIKEN cDNA 2610008E11 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL02999
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
78900208-78933434 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78903424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 297
(R297S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039271]
[ENSMUST00000218854]
[ENSMUST00000220220]
|
AlphaFold |
G3X964 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039271
AA Change: R297S
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044020 Gene: ENSMUSG00000060301 AA Change: R297S
Domain | Start | End | E-Value | Type |
KRAB
|
10 |
70 |
6.95e-32 |
SMART |
ZnF_C2H2
|
215 |
237 |
1.61e2 |
SMART |
ZnF_C2H2
|
243 |
266 |
4.24e-4 |
SMART |
ZnF_C2H2
|
272 |
295 |
1.03e-2 |
SMART |
ZnF_C2H2
|
301 |
324 |
1.76e-1 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.45e-2 |
SMART |
ZnF_C2H2
|
358 |
380 |
1.58e-3 |
SMART |
ZnF_C2H2
|
386 |
408 |
2.75e-3 |
SMART |
ZnF_C2H2
|
414 |
437 |
4.61e-5 |
SMART |
ZnF_C2H2
|
443 |
465 |
1.1e-2 |
SMART |
ZnF_C2H2
|
471 |
493 |
5.81e-2 |
SMART |
ZnF_C2H2
|
499 |
521 |
4.79e-3 |
SMART |
ZnF_C2H2
|
527 |
549 |
3.58e-2 |
SMART |
ZnF_C2H2
|
555 |
577 |
3.44e-4 |
SMART |
ZnF_C2H2
|
583 |
605 |
6.78e-3 |
SMART |
ZnF_C2H2
|
611 |
633 |
3.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218854
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220220
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
Het |
|
Other mutations in 2610008E11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01551:2610008E11Rik
|
APN |
10 |
78,924,147 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01905:2610008E11Rik
|
APN |
10 |
78,903,582 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02522:2610008E11Rik
|
APN |
10 |
78,903,633 (GRCm39) |
missense |
probably benign |
0.27 |
K7371:2610008E11Rik
|
UTSW |
10 |
78,903,767 (GRCm39) |
missense |
probably benign |
0.01 |
R0557:2610008E11Rik
|
UTSW |
10 |
78,903,519 (GRCm39) |
missense |
probably damaging |
0.99 |
R0761:2610008E11Rik
|
UTSW |
10 |
78,903,833 (GRCm39) |
missense |
probably benign |
0.00 |
R1528:2610008E11Rik
|
UTSW |
10 |
78,903,530 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1801:2610008E11Rik
|
UTSW |
10 |
78,903,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R1923:2610008E11Rik
|
UTSW |
10 |
78,903,743 (GRCm39) |
missense |
probably damaging |
0.98 |
R2444:2610008E11Rik
|
UTSW |
10 |
78,904,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4223:2610008E11Rik
|
UTSW |
10 |
78,930,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R4653:2610008E11Rik
|
UTSW |
10 |
78,903,264 (GRCm39) |
missense |
probably benign |
0.42 |
R5127:2610008E11Rik
|
UTSW |
10 |
78,902,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R5784:2610008E11Rik
|
UTSW |
10 |
78,903,441 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6175:2610008E11Rik
|
UTSW |
10 |
78,902,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R6990:2610008E11Rik
|
UTSW |
10 |
78,902,925 (GRCm39) |
missense |
probably damaging |
0.99 |
R7055:2610008E11Rik
|
UTSW |
10 |
78,903,681 (GRCm39) |
missense |
probably damaging |
0.98 |
R7133:2610008E11Rik
|
UTSW |
10 |
78,902,474 (GRCm39) |
missense |
probably benign |
0.33 |
R7133:2610008E11Rik
|
UTSW |
10 |
78,902,473 (GRCm39) |
missense |
probably benign |
0.02 |
R7142:2610008E11Rik
|
UTSW |
10 |
78,903,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R7382:2610008E11Rik
|
UTSW |
10 |
78,903,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:2610008E11Rik
|
UTSW |
10 |
78,902,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8103:2610008E11Rik
|
UTSW |
10 |
78,903,668 (GRCm39) |
missense |
probably benign |
|
R8117:2610008E11Rik
|
UTSW |
10 |
78,930,289 (GRCm39) |
missense |
probably benign |
0.07 |
R8296:2610008E11Rik
|
UTSW |
10 |
78,903,568 (GRCm39) |
missense |
probably benign |
0.09 |
R8316:2610008E11Rik
|
UTSW |
10 |
78,903,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R8477:2610008E11Rik
|
UTSW |
10 |
78,924,174 (GRCm39) |
missense |
probably benign |
0.00 |
R8790:2610008E11Rik
|
UTSW |
10 |
78,928,285 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9044:2610008E11Rik
|
UTSW |
10 |
78,902,314 (GRCm39) |
nonsense |
probably null |
|
R9147:2610008E11Rik
|
UTSW |
10 |
78,903,406 (GRCm39) |
nonsense |
probably null |
|
R9148:2610008E11Rik
|
UTSW |
10 |
78,903,406 (GRCm39) |
nonsense |
probably null |
|
R9474:2610008E11Rik
|
UTSW |
10 |
78,903,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |