Incidental Mutation 'R4986:Armh4'
| ID |
385887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armh4
|
| Ensembl Gene |
ENSMUSG00000036242 |
| Gene Name |
armadillo-like helical domain containing 4 |
| Synonyms |
3632451O06Rik |
| MMRRC Submission |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49989111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 619
(D619E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036972]
[ENSMUST00000118129]
|
| AlphaFold |
Q8BT18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036972
AA Change: D619E
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: D619E
| 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: D619E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: D619E
| 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 |
0.0875 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
probably benign |
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 |
|
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'- ACCCAGACCTTGATTCTGCTG -3'
(R):5'- CCGTGGACTACTCAATGTTGAC -3'
Sequencing Primer
(F):5'- ACTCGATGGTCTCTGGCAC -3'
(R):5'- GTGGACTACTCAATGTTGACTTTAAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation