Incidental Mutation 'R1423:Armh4'
ID |
161185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armh4
|
Ensembl Gene |
ENSMUSG00000036242 |
Gene Name |
armadillo-like helical domain containing 4 |
Synonyms |
3632451O06Rik |
MMRRC Submission |
039479-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49988896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 691
(E691G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036972]
[ENSMUST00000118129]
|
AlphaFold |
Q8BT18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036972
AA Change: E691G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000036220 Gene: ENSMUSG00000036242 AA Change: E691G
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: E691G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113609 Gene: ENSMUSG00000036242 AA Change: E691G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226894
|
Meta Mutation Damage Score |
0.7171 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd13d |
A |
G |
19: 4,331,097 (GRCm39) |
S64P |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,258,302 (GRCm39) |
S342G |
probably damaging |
Het |
Bbs1 |
G |
A |
19: 4,944,291 (GRCm39) |
T446I |
probably benign |
Het |
Bmyc |
A |
G |
2: 25,597,236 (GRCm39) |
D100G |
probably damaging |
Het |
Btbd7 |
T |
C |
12: 102,751,734 (GRCm39) |
D1010G |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,704,104 (GRCm39) |
T196S |
probably benign |
Het |
Crtam |
C |
A |
9: 40,884,918 (GRCm39) |
R161L |
probably benign |
Het |
Cyp11b2 |
C |
A |
15: 74,724,979 (GRCm39) |
G290V |
probably damaging |
Het |
Edc4 |
C |
T |
8: 106,617,843 (GRCm39) |
|
probably benign |
Het |
Exd1 |
A |
T |
2: 119,370,494 (GRCm39) |
|
probably benign |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fbxo16 |
T |
C |
14: 65,524,623 (GRCm39) |
|
probably benign |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,420,298 (GRCm39) |
N173S |
probably damaging |
Het |
Gm13741 |
A |
T |
2: 87,486,674 (GRCm39) |
I197K |
possibly damaging |
Het |
Helb |
T |
A |
10: 119,944,871 (GRCm39) |
I222F |
probably damaging |
Het |
Hesx1 |
A |
T |
14: 26,723,876 (GRCm39) |
Q153L |
probably null |
Het |
Isca1 |
T |
C |
13: 59,910,593 (GRCm39) |
N33S |
probably benign |
Het |
Itsn2 |
T |
C |
12: 4,723,572 (GRCm39) |
V1142A |
probably damaging |
Het |
Lama5 |
T |
G |
2: 179,837,434 (GRCm39) |
T984P |
probably damaging |
Het |
Lima1 |
T |
A |
15: 99,717,626 (GRCm39) |
K127* |
probably null |
Het |
Lmbrd1 |
T |
A |
1: 24,785,959 (GRCm39) |
V418D |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,620,883 (GRCm39) |
V575A |
probably damaging |
Het |
Mrps28 |
T |
C |
3: 8,965,184 (GRCm39) |
H85R |
probably benign |
Het |
Mrtfb |
T |
C |
16: 13,230,105 (GRCm39) |
V930A |
possibly damaging |
Het |
Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Naip2 |
TCCC |
TCC |
13: 100,291,355 (GRCm39) |
|
probably benign |
Het |
Naip2 |
G |
A |
13: 100,291,380 (GRCm39) |
S1186F |
possibly damaging |
Het |
Nhlrc3 |
A |
T |
3: 53,369,836 (GRCm39) |
L45H |
probably damaging |
Het |
Or52e5 |
T |
G |
7: 104,719,226 (GRCm39) |
M184R |
probably damaging |
Het |
Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
Or8s16 |
T |
C |
15: 98,211,324 (GRCm39) |
T36A |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcdhb15 |
A |
T |
18: 37,606,975 (GRCm39) |
D69V |
probably damaging |
Het |
Pitpnm1 |
G |
A |
19: 4,162,392 (GRCm39) |
R1074H |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,450,601 (GRCm39) |
N381D |
probably benign |
Het |
Poc1b |
T |
C |
10: 98,988,725 (GRCm39) |
S247P |
probably damaging |
Het |
Prl7b1 |
T |
A |
13: 27,786,110 (GRCm39) |
N186I |
probably damaging |
Het |
Riok1 |
T |
C |
13: 38,233,090 (GRCm39) |
M241T |
probably damaging |
Het |
Tigit |
T |
C |
16: 43,469,395 (GRCm39) |
E232G |
probably benign |
Het |
Tpst2 |
T |
A |
5: 112,455,488 (GRCm39) |
L9Q |
probably benign |
Het |
Ttbk1 |
T |
C |
17: 46,757,080 (GRCm39) |
|
probably benign |
Het |
Vmn1r3 |
A |
T |
4: 3,185,231 (GRCm39) |
N25K |
probably damaging |
Het |
Vmn2r121 |
T |
A |
X: 123,039,602 (GRCm39) |
H522L |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,441,093 (GRCm39) |
Y255C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCTTCCAAAGCATCAAGTGACTA -3'
(R):5'- TCCCATAAACCGTGGACTACTCAATGT -3'
Sequencing Primer
(F):5'- TGGAGTTGTCTACGTAAAGCCAC -3'
(R):5'- agaagatgatgaggatgaagagg -3'
|
Posted On |
2014-03-14 |