Incidental Mutation 'R4308:Ascc1'
| ID |
324102 |
| 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 |
041659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R4308 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
59838627-59935810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 59849434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 108
(H108Q)
|
| 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: H108Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: H108Q
| 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: H108Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: H108Q
| 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
|
| Meta Mutation Damage Score |
0.0696 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,588,311 (GRCm39) |
T4425M |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,949,156 (GRCm39) |
S2989T |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,041,855 (GRCm39) |
|
probably null |
Het |
| Dars2 |
A |
G |
1: 160,869,291 (GRCm39) |
S653P |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,173,305 (GRCm39) |
K1872N |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,724,617 (GRCm39) |
|
probably benign |
Het |
| Gpr33 |
A |
T |
12: 52,070,423 (GRCm39) |
C205* |
probably null |
Het |
| Gsdmc2 |
A |
G |
15: 63,720,554 (GRCm39) |
|
probably benign |
Het |
| Il31 |
A |
G |
5: 123,618,769 (GRCm39) |
S6P |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 90,072,619 (GRCm39) |
K87R |
probably damaging |
Het |
| Kif15 |
T |
G |
9: 122,843,047 (GRCm39) |
H47Q |
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,158,690 (GRCm39) |
A653T |
unknown |
Het |
| Lamb1 |
T |
C |
12: 31,379,254 (GRCm39) |
L1737P |
probably damaging |
Het |
| Map2k5 |
C |
G |
9: 63,142,586 (GRCm39) |
R353S |
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,931,199 (GRCm39) |
L721I |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,922,268 (GRCm39) |
K37E |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,864,811 (GRCm39) |
D1369G |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Obi1 |
T |
A |
14: 104,717,029 (GRCm39) |
N448I |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,614 (GRCm39) |
I77T |
probably damaging |
Het |
| Or14j10 |
C |
T |
17: 37,934,627 (GRCm39) |
V300I |
possibly damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,399,714 (GRCm39) |
D555V |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
| Rwdd2b |
A |
T |
16: 87,233,615 (GRCm39) |
W162R |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,344,396 (GRCm39) |
M19T |
probably benign |
Het |
| Sft2d2 |
A |
G |
1: 165,015,833 (GRCm39) |
I45T |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,341,164 (GRCm39) |
H1371Q |
unknown |
Het |
| Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,619,498 (GRCm39) |
S2244R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,199,820 (GRCm39) |
V4568A |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,268 (GRCm39) |
Y285* |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp983 |
A |
G |
17: 21,881,124 (GRCm39) |
I351V |
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 |
|
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'- CATGACGAAGCAGAGATTGATC -3'
(R):5'- TTCTGCTTACCTTGGAGCAC -3'
Sequencing Primer
(F):5'- TACACTGAACTTGCTGGCAG -3'
(R):5'- TGGAGCACTTCCTCAGCAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation