Incidental Mutation 'IGL02135:Armh4'
ID |
281284 |
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 # |
IGL02135
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50011386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 107
(K107R)
|
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: K107R
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036220 Gene: ENSMUSG00000036242 AA Change: K107R
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: K107R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113609 Gene: ENSMUSG00000036242 AA Change: K107R
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,205 (GRCm39) |
H1034R |
possibly damaging |
Het |
Aoc1l1 |
G |
A |
6: 48,952,498 (GRCm39) |
R141Q |
probably benign |
Het |
App |
A |
G |
16: 84,876,726 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
G |
T |
11: 97,342,528 (GRCm39) |
R270L |
probably damaging |
Het |
Arhgap36 |
T |
C |
X: 48,586,066 (GRCm39) |
I342T |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,883,461 (GRCm39) |
M1356K |
possibly damaging |
Het |
Asap3 |
A |
C |
4: 135,968,464 (GRCm39) |
|
probably null |
Het |
Atl2 |
A |
G |
17: 80,167,214 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 110,066,004 (GRCm39) |
Y759* |
probably null |
Het |
Celsr3 |
A |
G |
9: 108,704,755 (GRCm39) |
T413A |
probably benign |
Het |
Cep97 |
A |
T |
16: 55,743,330 (GRCm39) |
I102K |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,466,813 (GRCm39) |
S441P |
probably benign |
Het |
Cops2 |
T |
C |
2: 125,674,163 (GRCm39) |
T435A |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,911,989 (GRCm39) |
N56S |
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,457,205 (GRCm39) |
R746* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,248,031 (GRCm39) |
C723S |
possibly damaging |
Het |
Dnah7a |
A |
C |
1: 53,662,632 (GRCm39) |
V643G |
probably benign |
Het |
Dnah9 |
A |
T |
11: 66,008,318 (GRCm39) |
S836T |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,612,454 (GRCm39) |
V164D |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,918,381 (GRCm39) |
D357V |
probably damaging |
Het |
Grem1 |
T |
C |
2: 113,580,132 (GRCm39) |
N123S |
probably damaging |
Het |
Gria1 |
T |
C |
11: 57,076,679 (GRCm39) |
V94A |
probably damaging |
Het |
Hipk2 |
G |
A |
6: 38,795,934 (GRCm39) |
H112Y |
possibly damaging |
Het |
Il7r |
T |
C |
15: 9,508,092 (GRCm39) |
N410S |
probably benign |
Het |
Insr |
A |
T |
8: 3,308,741 (GRCm39) |
S98R |
probably damaging |
Het |
Klhl7 |
T |
A |
5: 24,346,279 (GRCm39) |
Y308* |
probably null |
Het |
Lcp1 |
T |
C |
14: 75,437,926 (GRCm39) |
V112A |
probably benign |
Het |
Map2 |
A |
T |
1: 66,419,920 (GRCm39) |
R84* |
probably null |
Het |
Mgst1 |
A |
T |
6: 138,124,766 (GRCm39) |
M27L |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,559,707 (GRCm39) |
L740P |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,955,171 (GRCm39) |
F507L |
possibly damaging |
Het |
Nqo2 |
A |
T |
13: 34,169,326 (GRCm39) |
K183* |
probably null |
Het |
Nt5c1b |
T |
C |
12: 10,427,194 (GRCm39) |
Y315H |
probably damaging |
Het |
Odc1 |
T |
A |
12: 17,597,674 (GRCm39) |
I48N |
probably damaging |
Het |
Or2a56 |
A |
G |
6: 42,932,585 (GRCm39) |
D51G |
probably damaging |
Het |
Or7a37 |
T |
A |
10: 78,805,940 (GRCm39) |
S152R |
probably damaging |
Het |
Osbpl5 |
T |
A |
7: 143,258,862 (GRCm39) |
D236V |
probably damaging |
Het |
Prkg1 |
A |
G |
19: 30,970,476 (GRCm39) |
Y212H |
probably benign |
Het |
Pttg1ip |
T |
C |
10: 77,425,578 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
A |
12: 103,659,974 (GRCm39) |
T103S |
possibly damaging |
Het |
Skp2 |
T |
C |
15: 9,125,234 (GRCm39) |
D115G |
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,004,435 (GRCm39) |
V221I |
probably benign |
Het |
Slc7a3 |
A |
C |
X: 100,123,098 (GRCm39) |
D609E |
probably benign |
Het |
Strc |
C |
T |
2: 121,195,315 (GRCm39) |
G1656D |
probably damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,441,891 (GRCm39) |
F234L |
probably damaging |
Het |
Tgm7 |
T |
G |
2: 120,929,519 (GRCm39) |
I252L |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,800,819 (GRCm39) |
D41G |
possibly damaging |
Het |
Tns2 |
T |
C |
15: 102,021,461 (GRCm39) |
L1034P |
probably damaging |
Het |
Trim15 |
A |
G |
17: 37,177,956 (GRCm39) |
V13A |
probably benign |
Het |
Uros |
C |
T |
7: 133,288,734 (GRCm39) |
V258M |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,853,723 (GRCm39) |
Y378C |
probably damaging |
Het |
Wdr75 |
G |
A |
1: 45,856,608 (GRCm39) |
|
probably null |
Het |
Wdr82 |
G |
T |
9: 106,048,443 (GRCm39) |
R9L |
possibly damaging |
Het |
Ybx3 |
G |
A |
6: 131,357,892 (GRCm39) |
R125C |
probably damaging |
Het |
Zc3h12b |
A |
G |
X: 94,942,870 (GRCm39) |
T49A |
probably benign |
Het |
Zfyve27 |
G |
A |
19: 42,172,575 (GRCm39) |
V279M |
probably 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 |
IGL01447:Armh4
|
APN |
14 |
50,005,923 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01645:Armh4
|
APN |
14 |
50,011,011 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |