Incidental Mutation 'IGL01645:Armh4'
ID |
102644 |
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 # |
IGL01645
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50011011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 232
(E232G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036972]
[ENSMUST00000118129]
|
AlphaFold |
Q8BT18 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036972
AA Change: E232G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036220 Gene: ENSMUSG00000036242 AA Change: E232G
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: E232G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113609 Gene: ENSMUSG00000036242 AA Change: E232G
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
T |
7: 45,764,477 (GRCm39) |
C1156Y |
possibly damaging |
Het |
Atp8b1 |
G |
A |
18: 64,679,184 (GRCm39) |
H766Y |
probably benign |
Het |
Cacna2d1 |
C |
A |
5: 16,217,389 (GRCm39) |
|
probably null |
Het |
Card11 |
T |
A |
5: 140,863,778 (GRCm39) |
T987S |
probably benign |
Het |
Dennd2b |
T |
A |
7: 109,126,841 (GRCm39) |
K540* |
probably null |
Het |
Dmxl2 |
A |
T |
9: 54,286,017 (GRCm39) |
Y2723N |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 118,150,733 (GRCm39) |
I342F |
possibly damaging |
Het |
Dnajc10 |
A |
G |
2: 80,170,871 (GRCm39) |
H454R |
possibly damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,394,763 (GRCm39) |
T592A |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,825,451 (GRCm39) |
S49T |
probably damaging |
Het |
Esd |
T |
A |
14: 74,987,159 (GRCm39) |
N294K |
probably benign |
Het |
Fmo3 |
A |
G |
1: 162,791,575 (GRCm39) |
V234A |
possibly damaging |
Het |
Folh1 |
A |
G |
7: 86,391,435 (GRCm39) |
F420L |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,026,389 (GRCm39) |
N301S |
probably damaging |
Het |
Gm5422 |
A |
T |
10: 31,126,069 (GRCm39) |
|
noncoding transcript |
Het |
Gorab |
A |
T |
1: 163,214,000 (GRCm39) |
L310Q |
possibly damaging |
Het |
Gsdme |
A |
G |
6: 50,228,316 (GRCm39) |
Y51H |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,012 (GRCm39) |
L96P |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,450,560 (GRCm39) |
I1964T |
possibly damaging |
Het |
Lmbr1 |
A |
G |
5: 29,440,053 (GRCm39) |
L410P |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,395,090 (GRCm39) |
R112G |
probably benign |
Het |
Mrgpra6 |
T |
C |
7: 46,835,681 (GRCm39) |
T247A |
probably benign |
Het |
Mroh4 |
A |
G |
15: 74,483,207 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
T |
C |
11: 94,394,293 (GRCm39) |
|
probably null |
Het |
Myoz2 |
T |
A |
3: 122,827,881 (GRCm39) |
K12N |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,268,491 (GRCm39) |
S343G |
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,256,359 (GRCm39) |
I288T |
possibly damaging |
Het |
P3h1 |
T |
G |
4: 119,093,980 (GRCm39) |
F212V |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,614,656 (GRCm39) |
D265G |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,361,934 (GRCm39) |
T992I |
possibly damaging |
Het |
Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
Pth2 |
T |
A |
7: 44,830,764 (GRCm39) |
L29Q |
possibly damaging |
Het |
Rab1b |
A |
C |
19: 5,154,962 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
A |
T |
9: 96,464,834 (GRCm39) |
C190* |
probably null |
Het |
Scn9a |
T |
C |
2: 66,317,986 (GRCm39) |
K1501E |
possibly damaging |
Het |
Selenoi |
A |
G |
5: 30,462,821 (GRCm39) |
|
probably benign |
Het |
Slc11a2 |
T |
C |
15: 100,286,999 (GRCm39) |
N558S |
probably benign |
Het |
Sox10 |
T |
C |
15: 79,040,539 (GRCm39) |
I173V |
probably benign |
Het |
Sra1 |
A |
C |
18: 36,804,526 (GRCm39) |
F476C |
probably damaging |
Het |
Tmem119 |
T |
A |
5: 113,933,409 (GRCm39) |
K131* |
probably null |
Het |
Trim12c |
T |
A |
7: 103,994,261 (GRCm39) |
K198* |
probably null |
Het |
Ttn |
A |
G |
2: 76,681,904 (GRCm39) |
|
probably benign |
Het |
Unc119b |
C |
T |
5: 115,265,371 (GRCm39) |
V154I |
probably benign |
Het |
Usp47 |
T |
A |
7: 111,654,069 (GRCm39) |
S108R |
probably damaging |
Het |
Vmn1r15 |
T |
A |
6: 57,235,547 (GRCm39) |
C138* |
probably null |
Het |
Vmn1r191 |
T |
C |
13: 22,363,614 (GRCm39) |
I47V |
probably benign |
Het |
Wnt3 |
C |
T |
11: 103,703,204 (GRCm39) |
A229V |
probably benign |
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 |
IGL01447:Armh4
|
APN |
14 |
50,005,923 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-01-21 |