Incidental Mutation 'R1307:Ascc1'
| ID |
157836 |
| 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 |
039373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R1307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59838627-59935810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59848321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 83
(I83L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050516]
[ENSMUST00000164083]
|
| AlphaFold |
Q9D8Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050516
AA Change: I83L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: I83L
| 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 benign
Transcript: ENSMUST00000164083
AA Change: I83L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: I83L
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
56 |
124 |
9.05e-6 |
SMART |
|
Pfam:AKAP7_NLS
|
132 |
355 |
3e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219778
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1b |
T |
C |
9: 89,081,543 (GRCm39) |
V44A |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,186,271 (GRCm39) |
D1727G |
possibly damaging |
Het |
| Cabp1 |
A |
G |
5: 115,310,965 (GRCm39) |
F294L |
probably damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,016 (GRCm39) |
M365K |
probably damaging |
Het |
| Gk2 |
A |
T |
5: 97,603,268 (GRCm39) |
D523E |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,839 (GRCm39) |
T76A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,946,028 (GRCm39) |
I804F |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,336,314 (GRCm39) |
N876S |
probably benign |
Het |
| Polr3f |
T |
C |
2: 144,375,113 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,163,895 (GRCm39) |
V389A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,258,378 (GRCm39) |
E151G |
probably damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,655,470 (GRCm39) |
N135S |
probably benign |
Het |
| Sphk1 |
G |
A |
11: 116,426,928 (GRCm39) |
V295I |
probably benign |
Het |
| Sv2b |
G |
T |
7: 74,856,182 (GRCm39) |
T36K |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,538,786 (GRCm39) |
E291G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,927,096 (GRCm39) |
E810G |
probably damaging |
Het |
| Uba52 |
T |
C |
8: 70,961,166 (GRCm39) |
H68R |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,036,335 (GRCm39) |
N552S |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,164 (GRCm39) |
C416R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,037 (GRCm39) |
V1447A |
probably damaging |
Het |
| Zfp985 |
C |
T |
4: 147,667,704 (GRCm39) |
L191F |
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 |
|
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 |
|
R7766:Ascc1
|
UTSW |
10 |
59,840,641 (GRCm39) |
start codon destroyed |
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'- GAGTGAAGATAGCATGTCCCATGAGTC -3'
(R):5'- TGCATGGATGCACAGATGCACG -3'
Sequencing Primer
(F):5'- AGCATGTCCCATGAGTCCTAATTAC -3'
(R):5'- acacacacacacacaatctaaac -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation