Incidental Mutation 'IGL02193:Armh3'
| ID |
283959 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armh3
|
| Ensembl Gene |
ENSMUSG00000039901 |
| Gene Name |
armadillo-like helical domain containing 3 |
| Synonyms |
9130011E15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45805803-45986927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45961323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 118
(T118K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045396]
|
| AlphaFold |
Q6PD19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045396
AA Change: T118K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: T118K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
|
DUF1741
|
435 |
671 |
5.65e-139 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,572,815 (GRCm39) |
L812P |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,808,767 (GRCm39) |
F714I |
probably benign |
Het |
| Celf5 |
A |
G |
10: 81,306,507 (GRCm39) |
I52T |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,729,809 (GRCm39) |
V771A |
probably benign |
Het |
| Enpep |
G |
T |
3: 129,075,336 (GRCm39) |
L661I |
possibly damaging |
Het |
| Faxc |
A |
G |
4: 21,993,486 (GRCm39) |
N377D |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,442,264 (GRCm39) |
E190G |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,302 (GRCm39) |
M285I |
probably benign |
Het |
| Gm5900 |
A |
C |
7: 104,599,231 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6133 |
A |
G |
18: 78,393,308 (GRCm39) |
N101D |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,746,531 (GRCm39) |
K116E |
probably benign |
Het |
| H2-D1 |
T |
G |
17: 35,484,785 (GRCm39) |
H215Q |
possibly damaging |
Het |
| Hdc |
A |
T |
2: 126,443,700 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
T |
C |
10: 62,853,056 (GRCm39) |
H195R |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,782 (GRCm39) |
T939A |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,498,162 (GRCm39) |
L411Q |
probably damaging |
Het |
| Krt79 |
G |
T |
15: 101,848,340 (GRCm39) |
P104T |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,918,670 (GRCm39) |
M384L |
probably benign |
Het |
| Lamb2 |
T |
G |
9: 108,366,559 (GRCm39) |
D1590E |
probably benign |
Het |
| Ly6i |
A |
T |
15: 74,854,879 (GRCm39) |
C10* |
probably null |
Het |
| Mamdc4 |
G |
A |
2: 25,454,458 (GRCm39) |
A1082V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,159,117 (GRCm39) |
L799H |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or2y13 |
C |
T |
11: 49,414,571 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,977,059 (GRCm39) |
N6K |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,753 (GRCm39) |
|
probably benign |
Het |
| Otud6b |
T |
C |
4: 14,812,543 (GRCm39) |
H268R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,927 (GRCm39) |
E138G |
probably damaging |
Het |
| Phactr1 |
T |
C |
13: 42,863,176 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,562,733 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,199 (GRCm39) |
|
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 111,999,647 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,828,913 (GRCm39) |
T191A |
probably benign |
Het |
| Slc25a3 |
A |
G |
10: 90,953,977 (GRCm39) |
V245A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc1 |
A |
G |
18: 9,992,863 (GRCm39) |
D545G |
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,737 (GRCm39) |
M69K |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,196,344 (GRCm39) |
V1456A |
probably benign |
Het |
| Trappc6a |
T |
A |
7: 19,249,144 (GRCm39) |
C124S |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,628 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Armh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Armh3
|
APN |
19 |
45,928,927 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00788:Armh3
|
APN |
19 |
45,920,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01356:Armh3
|
APN |
19 |
45,954,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01477:Armh3
|
APN |
19 |
45,967,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01660:Armh3
|
APN |
19 |
45,928,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Armh3
|
APN |
19 |
45,946,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Armh3
|
APN |
19 |
45,808,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0035:Armh3
|
UTSW |
19 |
45,879,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Armh3
|
UTSW |
19 |
45,922,307 (GRCm39) |
splice site |
probably null |
|
|
R0792:Armh3
|
UTSW |
19 |
45,922,307 (GRCm39) |
splice site |
probably null |
|
|
R1487:Armh3
|
UTSW |
19 |
45,928,882 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1843:Armh3
|
UTSW |
19 |
45,963,691 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2061:Armh3
|
UTSW |
19 |
45,967,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Armh3
|
UTSW |
19 |
45,879,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Armh3
|
UTSW |
19 |
45,953,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2073:Armh3
|
UTSW |
19 |
45,953,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2074:Armh3
|
UTSW |
19 |
45,953,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Armh3
|
UTSW |
19 |
45,941,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2263:Armh3
|
UTSW |
19 |
45,920,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2863:Armh3
|
UTSW |
19 |
45,874,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Armh3
|
UTSW |
19 |
45,963,722 (GRCm39) |
splice site |
probably benign |
|
|
R3796:Armh3
|
UTSW |
19 |
45,910,049 (GRCm39) |
splice site |
probably benign |
|
|
R4044:Armh3
|
UTSW |
19 |
45,808,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Armh3
|
UTSW |
19 |
45,948,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Armh3
|
UTSW |
19 |
45,808,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Armh3
|
UTSW |
19 |
45,939,146 (GRCm39) |
missense |
probably benign |
|
|
R5063:Armh3
|
UTSW |
19 |
45,874,394 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5313:Armh3
|
UTSW |
19 |
45,807,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Armh3
|
UTSW |
19 |
45,874,466 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5985:Armh3
|
UTSW |
19 |
45,808,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Armh3
|
UTSW |
19 |
45,834,554 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6379:Armh3
|
UTSW |
19 |
45,910,136 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6674:Armh3
|
UTSW |
19 |
45,963,437 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6842:Armh3
|
UTSW |
19 |
45,807,416 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6890:Armh3
|
UTSW |
19 |
45,948,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Armh3
|
UTSW |
19 |
45,953,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7036:Armh3
|
UTSW |
19 |
45,953,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7305:Armh3
|
UTSW |
19 |
45,880,560 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7411:Armh3
|
UTSW |
19 |
45,953,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7762:Armh3
|
UTSW |
19 |
45,928,882 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Armh3
|
UTSW |
19 |
45,945,180 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8366:Armh3
|
UTSW |
19 |
45,920,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Armh3
|
UTSW |
19 |
45,945,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Armh3
|
UTSW |
19 |
45,920,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Armh3
|
UTSW |
19 |
45,807,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation