Incidental Mutation 'IGL02012:Armc1'
| ID |
183400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armc1
|
| Ensembl Gene |
ENSMUSG00000027599 |
| Gene Name |
armadillo repeat containing 1 |
| Synonyms |
Arcp, 2310016N05Rik, 2900046P06Rik, C330014L16Rik, 3110009G21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
IGL02012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
19185566-19217229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19211701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 40
(C40S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029125]
|
| AlphaFold |
Q9D7A8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029125
AA Change: C40S
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029125
Gene: ENSMUSG00000027599
AA Change: C40S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arm
|
27 |
68 |
1.1e-6 |
PFAM |
|
SCOP:d1fvqa_
|
142 |
203 |
6e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,266,214 (GRCm39) |
D309E |
possibly damaging |
Het |
| Cops8 |
T |
C |
1: 90,539,956 (GRCm39) |
V204A |
probably damaging |
Het |
| Cstdc5 |
T |
G |
16: 36,187,802 (GRCm39) |
D21A |
possibly damaging |
Het |
| Dchs1 |
T |
G |
7: 105,413,504 (GRCm39) |
T1104P |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,435,529 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
G |
A |
11: 22,051,218 (GRCm39) |
P420S |
probably damaging |
Het |
| Eif1ad |
T |
G |
19: 5,418,687 (GRCm39) |
V80G |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,577 (GRCm39) |
Y3004H |
possibly damaging |
Het |
| Fbxo11 |
C |
T |
17: 88,320,079 (GRCm39) |
R211Q |
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,810,499 (GRCm39) |
N146S |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,199,662 (GRCm39) |
N334K |
probably benign |
Het |
| Gm45234 |
C |
A |
6: 124,723,011 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,323,069 (GRCm39) |
F1157I |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,167,638 (GRCm39) |
W64L |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,126,152 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,973,894 (GRCm39) |
I390T |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,674,764 (GRCm39) |
V351M |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,491 (GRCm39) |
I635M |
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,104 (GRCm39) |
L431P |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,847 (GRCm39) |
N463S |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,158 (GRCm39) |
C182R |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,333 (GRCm39) |
V3068A |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,022 (GRCm39) |
S88T |
probably benign |
Het |
| Prx |
A |
G |
7: 27,217,326 (GRCm39) |
E748G |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,148,773 (GRCm39) |
|
probably null |
Het |
| Trmt10b |
G |
A |
4: 45,315,045 (GRCm39) |
R292H |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,529,462 (GRCm39) |
|
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,445,070 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Armc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Armc1
|
APN |
3 |
19,198,584 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01453:Armc1
|
APN |
3 |
19,198,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02586:Armc1
|
APN |
3 |
19,188,192 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0512:Armc1
|
UTSW |
3 |
19,203,659 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1694:Armc1
|
UTSW |
3 |
19,189,050 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1878:Armc1
|
UTSW |
3 |
19,211,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Armc1
|
UTSW |
3 |
19,189,060 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2191:Armc1
|
UTSW |
3 |
19,188,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Armc1
|
UTSW |
3 |
19,189,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Armc1
|
UTSW |
3 |
19,211,840 (GRCm39) |
start gained |
probably benign |
|
|
R2969:Armc1
|
UTSW |
3 |
19,189,024 (GRCm39) |
missense |
probably benign |
|
|
R3861:Armc1
|
UTSW |
3 |
19,189,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Armc1
|
UTSW |
3 |
19,203,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6753:Armc1
|
UTSW |
3 |
19,198,562 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6891:Armc1
|
UTSW |
3 |
19,189,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Armc1
|
UTSW |
3 |
19,198,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8373:Armc1
|
UTSW |
3 |
19,203,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Armc1
|
UTSW |
3 |
19,211,700 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1088:Armc1
|
UTSW |
3 |
19,203,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Armc1
|
UTSW |
3 |
19,203,738 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2014-05-07 |
Incidental Mutation