Incidental Mutation 'R7766:Ascc1'
| ID |
598248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ascc1
|
| Ensembl Gene |
ENSMUSG00000044475 |
| Gene Name |
activating signal cointegrator 1 complex subunit 1 |
| Synonyms |
CGI-18, ASC1p50, 1810015P09Rik |
| MMRRC Submission |
045822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R7766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
59838627-59935810 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 59840641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020307]
[ENSMUST00000050516]
[ENSMUST00000164083]
[ENSMUST00000182116]
[ENSMUST00000182152]
[ENSMUST00000182898]
[ENSMUST00000182912]
|
| AlphaFold |
Q9D8Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020307
|
| SMART Domains |
Protein: ENSMUSP00000020307
Gene: ENSMUSG00000020107
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050516
AA Change: M1L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
56 |
124 |
9.05e-6 |
SMART |
|
Pfam:AKAP7_NLS
|
132 |
355 |
4.3e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164083
AA Change: M1L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
56 |
124 |
9.05e-6 |
SMART |
|
Pfam:AKAP7_NLS
|
132 |
355 |
3e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182152
|
| SMART Domains |
Protein: ENSMUSP00000138579
Gene: ENSMUSG00000020107
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182898
|
| SMART Domains |
Protein: ENSMUSP00000138112
Gene: ENSMUSG00000020107
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182912
|
| Meta Mutation Damage Score |
0.7657 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,300 (GRCm39) |
F58S |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,331,540 (GRCm39) |
M1309K |
probably benign |
Het |
| Ccdc85b |
A |
T |
19: 5,506,880 (GRCm39) |
S182R |
probably damaging |
Het |
| Cnpy3 |
G |
T |
17: 47,048,161 (GRCm39) |
Q185K |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,827 (GRCm39) |
Y25H |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,592,101 (GRCm39) |
F725I |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,167,782 (GRCm39) |
F1022L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,725 (GRCm39) |
L63P |
probably benign |
Het |
| Egr4 |
C |
T |
6: 85,489,181 (GRCm39) |
G293D |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,727 (GRCm39) |
F98I |
possibly damaging |
Het |
| Gfm2 |
C |
T |
13: 97,286,908 (GRCm39) |
S169F |
probably damaging |
Het |
| Hexim2 |
C |
G |
11: 103,029,838 (GRCm39) |
P297A |
probably benign |
Het |
| Hnrnpab |
G |
A |
11: 51,492,293 (GRCm39) |
T314I |
unknown |
Het |
| Ift88 |
T |
C |
14: 57,685,111 (GRCm39) |
F309S |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,232,494 (GRCm39) |
T97S |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,990,427 (GRCm39) |
I905V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,094 (GRCm39) |
Y720C |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
T |
A |
6: 126,716,682 (GRCm39) |
D69V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,846 (GRCm39) |
C588R |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,766,042 (GRCm39) |
T175S |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,357,397 (GRCm39) |
M125K |
probably benign |
Het |
| Ms4a4b |
A |
C |
19: 11,427,352 (GRCm39) |
M24L |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,249,155 (GRCm39) |
S1292R |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,556,052 (GRCm39) |
D923G |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,326,333 (GRCm39) |
I2425M |
probably benign |
Het |
| Oasl1 |
G |
T |
5: 115,075,169 (GRCm39) |
A410S |
probably damaging |
Het |
| Or52d1 |
T |
A |
7: 103,756,201 (GRCm39) |
C238* |
probably null |
Het |
| Or5p80 |
C |
T |
7: 108,229,583 (GRCm39) |
S128F |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,002 (GRCm39) |
I49N |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,458,286 (GRCm39) |
K507E |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,465,743 (GRCm39) |
N159S |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,809 (GRCm39) |
K445E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,474 (GRCm39) |
S1028P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,107 (GRCm39) |
S30G |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,809 (GRCm39) |
I45F |
probably damaging |
Het |
| Slc17a6 |
A |
T |
7: 51,318,914 (GRCm39) |
I519F |
probably benign |
Het |
| Tacc2 |
C |
T |
7: 130,345,328 (GRCm39) |
H2582Y |
probably damaging |
Het |
| Tmem176a |
A |
T |
6: 48,821,116 (GRCm39) |
|
probably null |
Het |
| Tnr |
A |
T |
1: 159,715,880 (GRCm39) |
T881S |
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,686,969 (GRCm39) |
R394S |
probably damaging |
Het |
| Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
| Ttn |
T |
C |
2: 76,645,042 (GRCm39) |
T12938A |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,149,061 (GRCm39) |
D104V |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,947,183 (GRCm39) |
S835P |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,219 (GRCm39) |
V609E |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,084 (GRCm39) |
S168G |
probably benign |
Het |
|
| Other mutations in Ascc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Ascc1
|
APN |
10 |
59,848,280 (GRCm39) |
splice site |
probably benign |
|
|
Dagger
|
UTSW |
10 |
59,849,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stiletto
|
UTSW |
10 |
59,840,641 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R1307:Ascc1
|
UTSW |
10 |
59,848,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1463:Ascc1
|
UTSW |
10 |
59,898,338 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2403:Ascc1
|
UTSW |
10 |
59,840,663 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4308:Ascc1
|
UTSW |
10 |
59,849,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4703:Ascc1
|
UTSW |
10 |
59,885,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Ascc1
|
UTSW |
10 |
59,885,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Ascc1
|
UTSW |
10 |
59,885,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Ascc1
|
UTSW |
10 |
59,840,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6906:Ascc1
|
UTSW |
10 |
59,840,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6944:Ascc1
|
UTSW |
10 |
59,849,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Ascc1
|
UTSW |
10 |
59,843,560 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7661:Ascc1
|
UTSW |
10 |
59,885,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Ascc1
|
UTSW |
10 |
59,848,381 (GRCm39) |
missense |
probably null |
1.00 |
|
R8104:Ascc1
|
UTSW |
10 |
59,843,551 (GRCm39) |
missense |
probably benign |
|
|
R8721:Ascc1
|
UTSW |
10 |
59,933,928 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9189:Ascc1
|
UTSW |
10 |
59,843,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Ascc1
|
UTSW |
10 |
59,843,615 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTTGCCTACATAATGGAGTTTC -3'
(R):5'- TTATTAGACCCACTGAGCAGC -3'
Sequencing Primer
(F):5'- ACCTGGCTGCATGTGTAGTCC -3'
(R):5'- AAGCAAAGAATTACCCTTACAGTAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation