Incidental Mutation 'IGL00392:Armh3'
ID |
5654 |
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 # |
IGL00392
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
45805803-45986927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 45928927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 389
(H389P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045396]
|
AlphaFold |
Q6PD19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045396
AA Change: H389P
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000048454 Gene: ENSMUSG00000039901 AA Change: H389P
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
C |
7: 80,727,757 (GRCm39) |
Y296H |
possibly damaging |
Het |
Brca2 |
A |
G |
5: 150,464,705 (GRCm39) |
T1490A |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,987,102 (GRCm39) |
D1732V |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,016,258 (GRCm39) |
I273T |
probably benign |
Het |
Carmil1 |
G |
A |
13: 24,278,474 (GRCm39) |
T165I |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,881,722 (GRCm39) |
|
probably benign |
Het |
Cdh22 |
A |
G |
2: 164,954,521 (GRCm39) |
Y667H |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,815,546 (GRCm39) |
Q1823L |
probably benign |
Het |
Cfap210 |
T |
C |
2: 69,602,328 (GRCm39) |
H361R |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,027,826 (GRCm39) |
|
probably benign |
Het |
Dhx15 |
A |
T |
5: 52,314,924 (GRCm39) |
|
probably benign |
Het |
Dip2c |
A |
T |
13: 9,543,144 (GRCm39) |
D30V |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,695,749 (GRCm39) |
D503G |
probably damaging |
Het |
Enpp1 |
T |
A |
10: 24,521,325 (GRCm39) |
I801F |
possibly damaging |
Het |
Fnbp4 |
A |
C |
2: 90,581,966 (GRCm39) |
|
probably benign |
Het |
Klk1b5 |
T |
A |
7: 43,865,928 (GRCm39) |
W2R |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,064,261 (GRCm39) |
K1240R |
probably benign |
Het |
Matn2 |
A |
G |
15: 34,403,002 (GRCm39) |
N409S |
probably benign |
Het |
Mep1b |
A |
T |
18: 21,217,243 (GRCm39) |
K121* |
probably null |
Het |
Mettl26 |
T |
C |
17: 26,095,098 (GRCm39) |
|
probably null |
Het |
Myh7 |
T |
C |
14: 55,224,845 (GRCm39) |
E574G |
probably damaging |
Het |
Nfkbie |
G |
A |
17: 45,871,139 (GRCm39) |
|
probably null |
Het |
Nlrc4 |
T |
C |
17: 74,753,529 (GRCm39) |
R285G |
probably benign |
Het |
Pax8 |
T |
C |
2: 24,333,144 (GRCm39) |
Y66C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,876 (GRCm39) |
D1523G |
probably damaging |
Het |
Pou2f1 |
A |
G |
1: 165,724,159 (GRCm39) |
|
probably benign |
Het |
Prom1 |
A |
G |
5: 44,164,363 (GRCm39) |
|
probably null |
Het |
Ptk6 |
T |
C |
2: 180,837,611 (GRCm39) |
D436G |
probably benign |
Het |
Robo4 |
T |
A |
9: 37,319,525 (GRCm39) |
F592I |
probably damaging |
Het |
Sec24c |
C |
A |
14: 20,743,271 (GRCm39) |
S964R |
probably benign |
Het |
Sgcb |
G |
T |
5: 73,793,021 (GRCm39) |
N260K |
possibly damaging |
Het |
Smarcd2 |
T |
C |
11: 106,156,730 (GRCm39) |
D221G |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
Zfpl1 |
C |
A |
19: 6,131,137 (GRCm39) |
R285L |
possibly damaging |
Het |
|
Other mutations in Armh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02193:Armh3
|
APN |
19 |
45,961,323 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2012-04-20 |