Incidental Mutation 'IGL03108:Armh3'
ID |
419087 |
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 # |
IGL03108
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
45805803-45986927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 45808792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 633
(T633I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026247]
[ENSMUST00000045396]
[ENSMUST00000079431]
[ENSMUST00000161886]
[ENSMUST00000162528]
[ENSMUST00000162661]
|
AlphaFold |
Q6PD19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026247
|
SMART Domains |
Protein: ENSMUSP00000026247 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
126 |
154 |
1e-1 |
SMART |
EFh
|
162 |
190 |
1.88e-6 |
SMART |
EFh
|
210 |
238 |
4.6e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045396
AA Change: T633I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048454 Gene: ENSMUSG00000039901 AA Change: T633I
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079431
|
SMART Domains |
Protein: ENSMUSP00000078400 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
126 |
154 |
1e-1 |
SMART |
EFh
|
162 |
190 |
1.88e-6 |
SMART |
EFh
|
210 |
238 |
4.6e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111906
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161886
|
SMART Domains |
Protein: ENSMUSP00000124482 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
94 |
122 |
1e-1 |
SMART |
EFh
|
130 |
158 |
1.88e-6 |
SMART |
EFh
|
178 |
206 |
4.6e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162528
|
SMART Domains |
Protein: ENSMUSP00000125142 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
EFh
|
144 |
172 |
1e-1 |
SMART |
EFh
|
180 |
208 |
1.88e-6 |
SMART |
EFh
|
228 |
256 |
4.6e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162661
|
SMART Domains |
Protein: ENSMUSP00000124821 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
94 |
122 |
3.4e-4 |
SMART |
EFh
|
142 |
170 |
1.63e-1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,557,574 (GRCm39) |
W296R |
probably damaging |
Het |
Btbd3 |
T |
C |
2: 138,126,043 (GRCm39) |
V409A |
possibly damaging |
Het |
C130050O18Rik |
A |
T |
5: 139,400,820 (GRCm39) |
D291V |
probably damaging |
Het |
Catsper3 |
A |
G |
13: 55,955,848 (GRCm39) |
N318D |
probably benign |
Het |
Chd1 |
T |
A |
17: 15,945,543 (GRCm39) |
D22E |
possibly damaging |
Het |
Chrnb2 |
G |
A |
3: 89,670,681 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
G |
A |
3: 145,029,162 (GRCm39) |
G550D |
probably damaging |
Het |
Cryl1 |
T |
C |
14: 57,550,534 (GRCm39) |
D110G |
probably damaging |
Het |
Deaf1 |
A |
G |
7: 140,902,874 (GRCm39) |
I150T |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,770,747 (GRCm39) |
D33E |
possibly damaging |
Het |
Fabp12 |
C |
A |
3: 10,315,114 (GRCm39) |
G78C |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,476,651 (GRCm39) |
D1899G |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,744,660 (GRCm39) |
V120I |
probably benign |
Het |
Ganab |
G |
A |
19: 8,889,840 (GRCm39) |
A635T |
probably damaging |
Het |
Gm17509 |
G |
A |
13: 117,357,380 (GRCm39) |
|
probably benign |
Het |
Gstm3 |
A |
T |
3: 107,875,080 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
A |
5: 107,043,800 (GRCm39) |
|
probably benign |
Het |
Hoxd13 |
A |
C |
2: 74,500,440 (GRCm39) |
D327A |
probably damaging |
Het |
Ints4 |
G |
T |
7: 97,140,137 (GRCm39) |
|
probably null |
Het |
Kcna10 |
A |
T |
3: 107,102,259 (GRCm39) |
T297S |
probably benign |
Het |
Ldb2 |
G |
A |
5: 44,699,057 (GRCm39) |
T127I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,357,596 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,217,402 (GRCm39) |
S2359P |
possibly damaging |
Het |
Mup6 |
A |
T |
4: 60,005,990 (GRCm39) |
I161F |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,169 (GRCm39) |
V665I |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,073,034 (GRCm39) |
N161S |
possibly damaging |
Het |
Or14a258 |
T |
C |
7: 86,034,929 (GRCm39) |
Y313C |
possibly damaging |
Het |
Or4e5 |
T |
A |
14: 52,727,533 (GRCm39) |
D296V |
probably damaging |
Het |
Otog |
G |
A |
7: 45,900,762 (GRCm39) |
V352I |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,064,764 (GRCm39) |
V34D |
probably benign |
Het |
Pcdhb21 |
T |
A |
18: 37,648,944 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
T |
G |
18: 37,490,299 (GRCm39) |
V659G |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,042,234 (GRCm39) |
N1590S |
probably benign |
Het |
Rnf168 |
G |
T |
16: 32,097,099 (GRCm39) |
R56L |
possibly damaging |
Het |
Scn8a |
C |
T |
15: 100,872,496 (GRCm39) |
P362S |
probably benign |
Het |
Slc1a3 |
T |
A |
15: 8,668,562 (GRCm39) |
I468F |
probably damaging |
Het |
Slc39a14 |
G |
A |
14: 70,556,368 (GRCm39) |
R3W |
probably damaging |
Het |
Slc7a6 |
T |
A |
8: 106,921,149 (GRCm39) |
N373K |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,080,087 (GRCm39) |
S1955P |
possibly damaging |
Het |
Stat5a |
T |
A |
11: 100,753,965 (GRCm39) |
Y98* |
probably null |
Het |
Thsd7b |
G |
T |
1: 130,138,013 (GRCm39) |
G1564C |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,569,206 (GRCm39) |
V1351A |
possibly damaging |
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 |
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 |
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 |
2016-08-02 |