Incidental Mutation 'IGL02296:Armc10'
| ID |
290195 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armc10
|
| Ensembl Gene |
ENSMUSG00000038525 |
| Gene Name |
armadillo repeat containing 10 |
| Synonyms |
2810037C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL02296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21851004-21867697 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21865631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 225
(R225S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060899]
[ENSMUST00000072896]
[ENSMUST00000095495]
[ENSMUST00000115217]
[ENSMUST00000148873]
|
| AlphaFold |
Q9D0L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060899
|
| SMART Domains |
Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Pfam:Lactamase_B_3
|
126 |
343 |
1.5e-14 |
PFAM |
|
Pfam:Lactamase_B_2
|
142 |
344 |
2.7e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072896
|
| SMART Domains |
Protein: ENSMUSP00000072669
Gene: ENSMUSG00000038525
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
48 |
300 |
2e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095495
AA Change: R225S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093149
Gene: ENSMUSG00000038525
AA Change: R225S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
48 |
234 |
6.5e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115217
|
| SMART Domains |
Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
|
Pfam:Lactamase_B_3
|
126 |
343 |
1.3e-13 |
PFAM |
|
Pfam:Lactamase_B_2
|
142 |
344 |
1.4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148873
|
| SMART Domains |
Protein: ENSMUSP00000120269
Gene: ENSMUSG00000038525
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
38 |
286 |
4.7e-113 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402D24Rik |
T |
A |
1: 63,808,344 (GRCm39) |
R7S |
unknown |
Het |
| Acss3 |
A |
T |
10: 106,889,312 (GRCm39) |
Y169* |
probably null |
Het |
| Anln |
T |
C |
9: 22,283,483 (GRCm39) |
K450R |
possibly damaging |
Het |
| Cbfb |
T |
A |
8: 105,905,312 (GRCm39) |
Y85N |
probably damaging |
Het |
| Col13a1 |
G |
T |
10: 61,697,804 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,700,600 (GRCm39) |
I626V |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,731,065 (GRCm39) |
T172M |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Glyat |
A |
T |
19: 12,628,625 (GRCm39) |
D140V |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,585,130 (GRCm39) |
F25I |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,576,880 (GRCm39) |
Y574H |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,574,317 (GRCm39) |
R501* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,034,662 (GRCm39) |
E23G |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,751,983 (GRCm39) |
S456N |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,221,021 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,200 (GRCm39) |
N289S |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,474,793 (GRCm39) |
A674D |
possibly damaging |
Het |
| Or1e25 |
A |
T |
11: 73,493,532 (GRCm39) |
N42I |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,311 (GRCm39) |
|
probably null |
Het |
| Pak2 |
T |
C |
16: 31,862,820 (GRCm39) |
|
probably null |
Het |
| Pde4a |
A |
T |
9: 21,103,865 (GRCm39) |
N138I |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,993,001 (GRCm39) |
D286G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,425,051 (GRCm39) |
Q131* |
probably null |
Het |
| Prdx2 |
T |
A |
8: 85,700,681 (GRCm39) |
D188E |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,048,657 (GRCm39) |
K453R |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,218 (GRCm39) |
V470A |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,123,464 (GRCm39) |
S416G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,354,162 (GRCm39) |
H4013R |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,208,055 (GRCm39) |
L185P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,768 (GRCm39) |
I33406T |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,331,062 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Armc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Armc10
|
APN |
5 |
21,866,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01647:Armc10
|
APN |
5 |
21,851,091 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0220:Armc10
|
UTSW |
5 |
21,866,582 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0308:Armc10
|
UTSW |
5 |
21,852,295 (GRCm39) |
intron |
probably benign |
|
|
R1757:Armc10
|
UTSW |
5 |
21,858,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Armc10
|
UTSW |
5 |
21,866,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Armc10
|
UTSW |
5 |
21,858,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Armc10
|
UTSW |
5 |
21,866,548 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4741:Armc10
|
UTSW |
5 |
21,856,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Armc10
|
UTSW |
5 |
21,866,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Armc10
|
UTSW |
5 |
21,858,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5988:Armc10
|
UTSW |
5 |
21,865,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Armc10
|
UTSW |
5 |
21,858,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7212:Armc10
|
UTSW |
5 |
21,865,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8063:Armc10
|
UTSW |
5 |
21,853,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8715:Armc10
|
UTSW |
5 |
21,858,516 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2015-04-16 |
Incidental Mutation