Incidental Mutation 'R4063:Armh4'
| ID |
315982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armh4
|
| Ensembl Gene |
ENSMUSG00000036242 |
| Gene Name |
armadillo-like helical domain containing 4 |
| Synonyms |
3632451O06Rik |
| MMRRC Submission |
041619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4063 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50011444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 88
(M88L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036972]
[ENSMUST00000118129]
|
| AlphaFold |
Q8BT18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036972
AA Change: M88L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: M88L
| 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 benign
Transcript: ENSMUST00000118129
AA Change: M88L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: M88L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,606 (GRCm39) |
F145L |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,130,575 (GRCm39) |
D421G |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,157,588 (GRCm39) |
*413W |
probably null |
Het |
| B4galt7 |
C |
A |
13: 55,756,152 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
A |
G |
10: 89,651,917 (GRCm39) |
N247S |
probably benign |
Het |
| C8g |
A |
T |
2: 25,389,425 (GRCm39) |
S147T |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,426,792 (GRCm39) |
Y510N |
possibly damaging |
Het |
| Cnot2 |
A |
G |
10: 116,373,301 (GRCm39) |
V34A |
possibly damaging |
Het |
| Cyb5d2 |
A |
T |
11: 72,686,606 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,421,144 (GRCm39) |
I3827T |
probably damaging |
Het |
| Dnah7a |
G |
T |
1: 53,464,376 (GRCm39) |
Q3672K |
probably benign |
Het |
| Dock1 |
A |
T |
7: 134,717,021 (GRCm39) |
Y1219F |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Gm10719 |
G |
T |
9: 3,019,043 (GRCm39) |
W96L |
probably damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,399 (GRCm39) |
H291Y |
probably damaging |
Het |
| Hmgcl |
T |
C |
4: 135,686,035 (GRCm39) |
Y167H |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,502,400 (GRCm39) |
D73V |
possibly damaging |
Het |
| Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
| Irag1 |
G |
T |
7: 110,522,984 (GRCm39) |
A359D |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,942,965 (GRCm39) |
N91S |
probably benign |
Het |
| M1ap |
A |
T |
6: 82,980,756 (GRCm39) |
N214I |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,057,005 (GRCm39) |
C826R |
probably damaging |
Het |
| Msx1 |
C |
A |
5: 37,981,365 (GRCm39) |
A105S |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,243 (GRCm39) |
S210A |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,103,978 (GRCm39) |
H153L |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,342,559 (GRCm39) |
D222G |
possibly damaging |
Het |
| Pramel29 |
T |
C |
4: 143,935,265 (GRCm39) |
K161E |
possibly damaging |
Het |
| Proz |
A |
G |
8: 13,114,621 (GRCm39) |
Y85C |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,597,613 (GRCm39) |
Q131L |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,472,077 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,635,091 (GRCm39) |
I719N |
probably benign |
Het |
| Slc18b1 |
A |
T |
10: 23,681,879 (GRCm39) |
I148L |
probably benign |
Het |
| Tacc2 |
G |
T |
7: 130,330,852 (GRCm39) |
D2086Y |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,354,298 (GRCm39) |
L1246P |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,177 (GRCm39) |
I161V |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,725,172 (GRCm39) |
D268G |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,727 (GRCm39) |
R895H |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,079 (GRCm39) |
I366T |
possibly damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,725 (GRCm39) |
I100V |
probably benign |
Het |
| Upp1 |
C |
A |
11: 9,081,709 (GRCm39) |
P82Q |
probably damaging |
Het |
| Vim |
A |
G |
2: 13,584,827 (GRCm39) |
|
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Zdhhc14 |
G |
T |
17: 5,802,983 (GRCm39) |
C362F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zswim5 |
G |
A |
4: 116,735,177 (GRCm39) |
G174D |
unknown |
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 |
|
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'- GACATTCTTTCAAGCAGGCTGG -3'
(R):5'- TGAGCAGACCAACTCTGATGC -3'
Sequencing Primer
(F):5'- GGGCCAGGCTCTTGTTCAC -3'
(R):5'- AACTCTGATGCCCACCTGTGTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation