Incidental Mutation 'R5211:Ascc2'
| ID |
403141 |
| 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 |
042785-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4587747-4635699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4623399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 545
(V545A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070257]
[ENSMUST00000109930]
|
| AlphaFold |
Q91WR3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070257
AA Change: V545A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: V545A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,394,233 (GRCm39) |
S181P |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,733,511 (GRCm39) |
T112S |
probably benign |
Het |
| Bmp2 |
A |
T |
2: 133,396,550 (GRCm39) |
S69C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,973,962 (GRCm39) |
I1378K |
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,695 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,704,894 (GRCm39) |
V635D |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,731,648 (GRCm39) |
E1218G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,804,145 (GRCm39) |
I319V |
probably benign |
Het |
| Esd |
T |
C |
14: 74,978,632 (GRCm39) |
S65P |
probably damaging |
Het |
| Exoc1l |
C |
A |
5: 76,664,250 (GRCm39) |
T113K |
possibly damaging |
Het |
| Fstl3 |
A |
T |
10: 79,616,012 (GRCm39) |
Q166L |
probably benign |
Het |
| Garin1a |
A |
T |
6: 29,286,098 (GRCm39) |
K128* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,757,371 (GRCm39) |
S2445T |
probably benign |
Het |
| Gfy |
C |
A |
7: 44,827,282 (GRCm39) |
L271F |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,284 (GRCm39) |
V66A |
possibly damaging |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Itm2c |
T |
A |
1: 85,834,249 (GRCm39) |
V188E |
probably damaging |
Het |
| Jmjd1c |
C |
G |
10: 67,067,795 (GRCm39) |
S1766C |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,538 (GRCm39) |
T255A |
probably benign |
Het |
| Kdm4d |
A |
C |
9: 14,374,400 (GRCm39) |
V486G |
probably benign |
Het |
| Krt18 |
T |
G |
15: 101,939,888 (GRCm39) |
I362S |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Ly6f |
G |
A |
15: 75,143,652 (GRCm39) |
V120M |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,451,321 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,889 (GRCm39) |
V43A |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,348,633 (GRCm39) |
M269L |
probably damaging |
Het |
| Myrfl |
C |
T |
10: 116,634,535 (GRCm39) |
V620I |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,783,381 (GRCm39) |
C908Y |
probably damaging |
Het |
| Nyap2 |
T |
A |
1: 81,064,991 (GRCm39) |
M1K |
probably null |
Het |
| Olfml3 |
A |
T |
3: 103,644,515 (GRCm39) |
H51Q |
probably benign |
Het |
| Or11h6 |
C |
T |
14: 50,880,710 (GRCm39) |
T324I |
possibly damaging |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,704 (GRCm39) |
V552I |
probably benign |
Het |
| Pm20d1 |
T |
A |
1: 131,734,647 (GRCm39) |
I353N |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,965,966 (GRCm39) |
F73L |
possibly damaging |
Het |
| Scn10a |
A |
C |
9: 119,490,298 (GRCm39) |
L548R |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,204,117 (GRCm39) |
Y68C |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,707,093 (GRCm39) |
V611A |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,769,814 (GRCm39) |
M164V |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,041,626 (GRCm39) |
S43G |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,723,651 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,746,257 (GRCm39) |
Y535C |
possibly 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 |
|
|
R2292:Ascc2
|
UTSW |
11 |
4,629,352 (GRCm39) |
splice site |
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 |
|
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'- CGCACTTTTAAAATGGAGCAAACAG -3'
(R):5'- TGTACAGGGACAGGCTTCAG -3'
Sequencing Primer
(F):5'- TTAAAATGGAGCAAACAGTATGATGG -3'
(R):5'- CATCTATGGGCACATCCATGTAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation