Incidental Mutation 'R0942:Ascc2'
ID |
82758 |
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 |
039081-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0942 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4587747-4635699 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4618380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 325
(I325N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070257]
[ENSMUST00000109930]
|
AlphaFold |
Q91WR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070257
AA Change: I325N
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000063272 Gene: ENSMUSG00000020412 AA Change: I325N
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
AA Change: I325N
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105556 Gene: ENSMUSG00000020412 AA Change: I325N
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 |
0.1211 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
Aass |
C |
T |
6: 23,075,151 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
C |
A |
12: 118,869,933 (GRCm39) |
V742F |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,602 (GRCm39) |
I165T |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,906,949 (GRCm39) |
Y119C |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,568,789 (GRCm39) |
|
probably benign |
Het |
Atad2b |
T |
A |
12: 5,074,591 (GRCm39) |
I1050N |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,912,742 (GRCm39) |
V245A |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,263,561 (GRCm39) |
D1270V |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,246,639 (GRCm39) |
M936K |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,792,666 (GRCm39) |
|
probably benign |
Het |
Dner |
T |
C |
1: 84,563,030 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,609 (GRCm39) |
R555* |
probably null |
Het |
Enpp4 |
A |
T |
17: 44,412,772 (GRCm39) |
L254* |
probably null |
Het |
Erich3 |
T |
A |
3: 154,444,788 (GRCm39) |
D518E |
probably benign |
Het |
Gli2 |
G |
A |
1: 118,765,236 (GRCm39) |
R972C |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,634 (GRCm39) |
Y346H |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,581,173 (GRCm39) |
L1192P |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,312,349 (GRCm39) |
Q445L |
probably benign |
Het |
Il17d |
C |
T |
14: 57,779,777 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,301 (GRCm39) |
N1936K |
probably benign |
Het |
Lrrc45 |
T |
C |
11: 120,609,064 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,400,100 (GRCm39) |
R934* |
probably null |
Het |
Nek11 |
T |
A |
9: 105,172,570 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,329,537 (GRCm39) |
S634P |
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,314 (GRCm39) |
M148K |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,396,355 (GRCm39) |
V1959A |
probably benign |
Het |
Pkp2 |
G |
T |
16: 16,043,894 (GRCm39) |
G216V |
probably benign |
Het |
Ppp1r16a |
T |
C |
15: 76,578,211 (GRCm39) |
L394P |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,996,139 (GRCm39) |
Q1070* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
A |
T |
3: 95,672,730 (GRCm39) |
I891N |
probably damaging |
Het |
Speer1e |
A |
T |
5: 11,236,488 (GRCm39) |
T174S |
probably benign |
Het |
Taf15 |
T |
C |
11: 83,389,932 (GRCm39) |
I40T |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,178 (GRCm39) |
Y1077H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,693,833 (GRCm39) |
E223G |
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 |
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 |
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'- TCCCTCAGTGACCTTTAAGACCACC -3'
(R):5'- GCAAATCACCCTGTGTCAGTACCC -3'
Sequencing Primer
(F):5'- TTTAAGACCACCGCAACTCTGG -3'
(R):5'- gtcctgctcaccttttttcc -3'
|
Posted On |
2013-11-08 |