Incidental Mutation 'R2292:Ascc2'
| ID |
245046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ascc2
|
| Ensembl Gene |
ENSMUSG00000020412 |
| Gene Name |
activating signal cointegrator 1 complex subunit 2 |
| Synonyms |
2610034L15Rik, 1700011I11Rik, ASC1p100 |
| MMRRC Submission |
040291-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4587747-4635699 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 4629352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070257]
[ENSMUST00000109930]
|
| AlphaFold |
Q91WR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070257
|
| SMART Domains |
Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
| Domain | Start | End | E-Value | Type |
|---|
|
CUE
|
465 |
507 |
7.59e-11 |
SMART |
|
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
648 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109930
|
| SMART Domains |
Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
| Domain | Start | End | E-Value | Type |
|---|
|
CUE
|
465 |
507 |
7.59e-11 |
SMART |
|
low complexity region
|
559 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
695 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
| A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
| Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
| Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
| Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
| Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
| Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
| Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
| Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
| Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
| Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
| Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
| Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
Het |
|
| Other mutations in Ascc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02749:Ascc2
|
APN |
11 |
4,590,481 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0485:Ascc2
|
UTSW |
11 |
4,622,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0632:Ascc2
|
UTSW |
11 |
4,599,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Ascc2
|
UTSW |
11 |
4,632,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Ascc2
|
UTSW |
11 |
4,618,380 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1893:Ascc2
|
UTSW |
11 |
4,622,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1991:Ascc2
|
UTSW |
11 |
4,629,257 (GRCm39) |
missense |
probably benign |
|
|
R2062:Ascc2
|
UTSW |
11 |
4,631,496 (GRCm39) |
missense |
probably benign |
|
|
R2063:Ascc2
|
UTSW |
11 |
4,631,496 (GRCm39) |
missense |
probably benign |
|
|
R2065:Ascc2
|
UTSW |
11 |
4,631,496 (GRCm39) |
missense |
probably benign |
|
|
R2067:Ascc2
|
UTSW |
11 |
4,631,496 (GRCm39) |
missense |
probably benign |
|
|
R2068:Ascc2
|
UTSW |
11 |
4,631,496 (GRCm39) |
missense |
probably benign |
|
|
R3076:Ascc2
|
UTSW |
11 |
4,622,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436:Ascc2
|
UTSW |
11 |
4,606,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Ascc2
|
UTSW |
11 |
4,596,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5211:Ascc2
|
UTSW |
11 |
4,623,399 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5395:Ascc2
|
UTSW |
11 |
4,609,273 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5859:Ascc2
|
UTSW |
11 |
4,608,284 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5917:Ascc2
|
UTSW |
11 |
4,631,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7569:Ascc2
|
UTSW |
11 |
4,629,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Ascc2
|
UTSW |
11 |
4,618,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8411:Ascc2
|
UTSW |
11 |
4,597,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Ascc2
|
UTSW |
11 |
4,614,227 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0011:Ascc2
|
UTSW |
11 |
4,608,297 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ascc2
|
UTSW |
11 |
4,596,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Ascc2
|
UTSW |
11 |
4,622,487 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ascc2
|
UTSW |
11 |
4,596,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCGAACTCAGCCTCTCTC -3'
(R):5'- ATGAGCTCGTCATCAGAGTCTG -3'
Sequencing Primer
(F):5'- GAACTCAGCCTCTCTCTGGGC -3'
(R):5'- CATCAGAGTCTGCATCGTTGGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation