Incidental Mutation 'IGL01447:Armh4'
| ID |
84471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armh4
|
| Ensembl Gene |
ENSMUSG00000036242 |
| Gene Name |
armadillo-like helical domain containing 4 |
| Synonyms |
3632451O06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01447
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50005923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 591
(S591T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036972]
[ENSMUST00000118129]
|
| AlphaFold |
Q8BT18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036972
AA Change: S591T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: S591T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4696
|
48 |
609 |
3.8e-224 |
PFAM |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118129
AA Change: S591T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: S591T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
603 |
644 |
N/A |
INTRINSIC |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
754 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| Apbb1ip |
T |
G |
2: 22,743,194 (GRCm39) |
I342S |
probably damaging |
Het |
| Atp6v1e1 |
T |
C |
6: 120,772,654 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,848,579 (GRCm39) |
C533* |
probably null |
Het |
| Cacna2d4 |
A |
G |
6: 119,219,865 (GRCm39) |
S212G |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,942 (GRCm39) |
R150G |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,011,902 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cmklr1 |
T |
C |
5: 113,752,282 (GRCm39) |
T240A |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,276 (GRCm39) |
D208G |
probably benign |
Het |
| Egr3 |
C |
A |
14: 70,316,732 (GRCm39) |
P143Q |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,530,675 (GRCm39) |
S41C |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,244,465 (GRCm39) |
I815N |
unknown |
Het |
| Heatr5b |
T |
C |
17: 79,137,026 (GRCm39) |
T165A |
probably benign |
Het |
| Iqub |
G |
T |
6: 24,505,627 (GRCm39) |
L94I |
probably benign |
Het |
| Lrrc32 |
T |
C |
7: 98,147,583 (GRCm39) |
L121P |
probably damaging |
Het |
| Mansc1 |
G |
A |
6: 134,594,289 (GRCm39) |
L118F |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,615,214 (GRCm39) |
H1693R |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,831 (GRCm39) |
Q3259R |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,988,189 (GRCm39) |
S273G |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,554 (GRCm39) |
C336R |
possibly damaging |
Het |
| Or10al6 |
C |
T |
17: 38,083,122 (GRCm39) |
L193F |
probably damaging |
Het |
| Or1f19 |
A |
G |
16: 3,410,848 (GRCm39) |
N196S |
possibly damaging |
Het |
| Or1j11 |
A |
T |
2: 36,311,466 (GRCm39) |
I19F |
probably damaging |
Het |
| Or56b1b |
A |
G |
7: 108,164,216 (GRCm39) |
V262A |
possibly damaging |
Het |
| Or5aq1 |
A |
T |
2: 86,966,343 (GRCm39) |
Y107* |
probably null |
Het |
| Or5d36 |
T |
C |
2: 87,901,468 (GRCm39) |
N86S |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,579,971 (GRCm39) |
A967T |
probably damaging |
Het |
| Rspo1 |
T |
C |
4: 124,898,829 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sar1b |
C |
T |
11: 51,682,274 (GRCm39) |
|
probably benign |
Het |
| Scamp1 |
C |
T |
13: 94,340,530 (GRCm39) |
A280T |
probably damaging |
Het |
| Spcs2 |
A |
G |
7: 99,488,911 (GRCm39) |
I251T |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,441,600 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
A |
4: 43,518,251 (GRCm39) |
K251* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,571,250 (GRCm39) |
S26548P |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,865 (GRCm39) |
V149G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,177 (GRCm39) |
N784K |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,932,633 (GRCm39) |
D580G |
probably damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,424 (GRCm39) |
K211R |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,781,680 (GRCm39) |
Y431C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,032,083 (GRCm39) |
D619G |
possibly damaging |
Het |
|
| Other mutations in Armh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Armh4
|
APN |
14 |
50,010,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00981:Armh4
|
APN |
14 |
50,010,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:Armh4
|
APN |
14 |
50,011,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Armh4
|
APN |
14 |
50,011,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02154:Armh4
|
APN |
14 |
50,010,399 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02163:Armh4
|
APN |
14 |
50,011,614 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03234:Armh4
|
APN |
14 |
50,005,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Armh4
|
UTSW |
14 |
49,989,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Armh4
|
UTSW |
14 |
50,011,243 (GRCm39) |
missense |
probably benign |
|
|
R0240:Armh4
|
UTSW |
14 |
50,005,859 (GRCm39) |
splice site |
probably benign |
|
|
R0553:Armh4
|
UTSW |
14 |
49,920,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Armh4
|
UTSW |
14 |
50,011,113 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0635:Armh4
|
UTSW |
14 |
50,010,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1423:Armh4
|
UTSW |
14 |
49,988,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Armh4
|
UTSW |
14 |
50,010,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1642:Armh4
|
UTSW |
14 |
50,005,867 (GRCm39) |
splice site |
probably null |
|
|
R1657:Armh4
|
UTSW |
14 |
50,011,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1717:Armh4
|
UTSW |
14 |
49,989,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1875:Armh4
|
UTSW |
14 |
49,919,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Armh4
|
UTSW |
14 |
50,008,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Armh4
|
UTSW |
14 |
50,005,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Armh4
|
UTSW |
14 |
50,005,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Armh4
|
UTSW |
14 |
50,011,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2147:Armh4
|
UTSW |
14 |
49,989,028 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2149:Armh4
|
UTSW |
14 |
49,989,028 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3921:Armh4
|
UTSW |
14 |
50,011,659 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4063:Armh4
|
UTSW |
14 |
50,011,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4373:Armh4
|
UTSW |
14 |
50,007,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Armh4
|
UTSW |
14 |
50,007,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Armh4
|
UTSW |
14 |
50,007,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Armh4
|
UTSW |
14 |
50,011,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Armh4
|
UTSW |
14 |
50,010,939 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4986:Armh4
|
UTSW |
14 |
49,989,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5047:Armh4
|
UTSW |
14 |
50,007,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Armh4
|
UTSW |
14 |
50,010,929 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5682:Armh4
|
UTSW |
14 |
49,989,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Armh4
|
UTSW |
14 |
50,010,769 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6478:Armh4
|
UTSW |
14 |
50,010,789 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6673:Armh4
|
UTSW |
14 |
50,008,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Armh4
|
UTSW |
14 |
50,010,507 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7054:Armh4
|
UTSW |
14 |
50,011,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Armh4
|
UTSW |
14 |
49,920,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Armh4
|
UTSW |
14 |
50,011,703 (GRCm39) |
splice site |
probably null |
|
|
R7944:Armh4
|
UTSW |
14 |
50,010,670 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7945:Armh4
|
UTSW |
14 |
50,010,670 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8049:Armh4
|
UTSW |
14 |
50,010,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8066:Armh4
|
UTSW |
14 |
50,005,980 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8519:Armh4
|
UTSW |
14 |
50,010,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Armh4
|
UTSW |
14 |
49,920,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Armh4
|
UTSW |
14 |
50,011,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Armh4
|
UTSW |
14 |
50,011,318 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8936:Armh4
|
UTSW |
14 |
50,008,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9007:Armh4
|
UTSW |
14 |
50,011,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9122:Armh4
|
UTSW |
14 |
50,011,459 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9406:Armh4
|
UTSW |
14 |
50,010,945 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9741:Armh4
|
UTSW |
14 |
50,008,081 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0026:Armh4
|
UTSW |
14 |
49,920,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation