Incidental Mutation 'IGL00788:Armh3'
| ID |
8495 |
| 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 # |
IGL00788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45805803-45986927 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 45920789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045396]
|
| AlphaFold |
Q6PD19 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045396
|
| SMART Domains |
Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
| Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
| Chst9 |
A |
G |
18: 15,586,087 (GRCm39) |
Y159H |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,829,432 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,681,421 (GRCm39) |
E152G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
| Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
| Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
| Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
| Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
| Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
| Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
| Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,031,906 (GRCm39) |
|
probably benign |
Het |
| Trim13 |
T |
C |
14: 61,843,119 (GRCm39) |
F379L |
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 |
|
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 |
2012-12-06 |
Incidental Mutation