Incidental Mutation 'IGL02522:2610008E11Rik'
| ID |
296907 |
| 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 # |
IGL02522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78900208-78933434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78903633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 228
(S228P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039271]
[ENSMUST00000218854]
[ENSMUST00000220220]
|
| AlphaFold |
G3X964 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039271
AA Change: S228P
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: S228P
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,889,809 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,974,684 (GRCm39) |
D486G |
probably damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,646 (GRCm39) |
V357A |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,716 (GRCm39) |
S1833G |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,681,061 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,423 (GRCm39) |
P19S |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,351,381 (GRCm39) |
H308R |
probably benign |
Het |
| Dst |
A |
T |
1: 34,289,781 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,762,336 (GRCm39) |
M201K |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,767,154 (GRCm39) |
D93G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,676 (GRCm39) |
K172R |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,148,746 (GRCm39) |
S386P |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,705 (GRCm39) |
N29S |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,617 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,298 (GRCm39) |
D2921V |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,259,013 (GRCm39) |
Y1125F |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,416,356 (GRCm39) |
L253F |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,504 (GRCm39) |
K209R |
possibly damaging |
Het |
| Rpsa |
A |
T |
9: 119,960,121 (GRCm39) |
Q228L |
possibly damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,181 (GRCm39) |
I160V |
probably benign |
Het |
| Tec |
C |
T |
5: 72,946,515 (GRCm39) |
V71I |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,540,612 (GRCm39) |
E1463G |
probably benign |
Het |
| Trim12a |
C |
T |
7: 103,950,038 (GRCm39) |
|
probably null |
Het |
| Vcan |
G |
T |
13: 89,852,968 (GRCm39) |
T664K |
probably benign |
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 |
|
IGL02999:2610008E11Rik
|
APN |
10 |
78,903,424 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
2015-04-16 |
Incidental Mutation