Incidental Mutation 'R1657:Armh4'
ID |
186488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armh4
|
Ensembl Gene |
ENSMUSG00000036242 |
Gene Name |
armadillo-like helical domain containing 4 |
Synonyms |
3632451O06Rik |
MMRRC Submission |
039693-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1657 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 50011017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 230
(T230S)
|
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: T230S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036220 Gene: ENSMUSG00000036242 AA Change: T230S
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: T230S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113609 Gene: ENSMUSG00000036242 AA Change: T230S
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
G |
11: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,319,034 (GRCm39) |
M166T |
possibly damaging |
Het |
Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
Mtif2 |
G |
A |
11: 29,490,721 (GRCm39) |
R475Q |
probably benign |
Het |
Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,125,336 (GRCm39) |
I417L |
probably benign |
Het |
Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,634,941 (GRCm39) |
E669G |
possibly damaging |
Het |
Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
Snx9 |
A |
C |
17: 5,968,711 (GRCm39) |
T336P |
possibly damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
Zfp184 |
C |
T |
13: 22,143,443 (GRCm39) |
T383M |
probably damaging |
Het |
Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
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 |
|
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'- GGTGTCATCCCACTCCTCATTGAAG -3'
(R):5'- CCCCAGCCTGCTTGAAAGAATGTC -3'
Sequencing Primer
(F):5'- AGCTGTGCTGACACTCACTG -3'
(R):5'- GAATGTCTTCTGAGCACAGC -3'
|
Posted On |
2014-05-09 |