Incidental Mutation 'R5047:Armh4'
ID |
394423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armh4
|
Ensembl Gene |
ENSMUSG00000036242 |
Gene Name |
armadillo-like helical domain containing 4 |
Synonyms |
3632451O06Rik |
MMRRC Submission |
042637-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5047 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 50007895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 526
(A526D)
|
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: A526D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036220 Gene: ENSMUSG00000036242 AA Change: A526D
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: A526D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113609 Gene: ENSMUSG00000036242 AA Change: A526D
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 |
|
Meta Mutation Damage Score |
0.1448 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
Validation Efficiency |
96% (49/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
probably null |
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 |
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 |
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'- TCCAGGTAGGGAACATGTGTG -3'
(R):5'- GTCTCTGAAAGAGCTGGCTG -3'
Sequencing Primer
(F):5'- AACATGTGTGTGCTGGTGAAAG -3'
(R):5'- TCCTTTTCAGACATCACTCAAGAG -3'
|
Posted On |
2016-06-15 |