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 |
Incidental Mutation