Incidental Mutation 'R8833:Armh4'
| ID |
673997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armh4
|
| Ensembl Gene |
ENSMUSG00000036242 |
| Gene Name |
armadillo-like helical domain containing 4 |
| Synonyms |
3632451O06Rik |
| MMRRC Submission |
068661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49919017-50020843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50011318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 130
(V130I)
|
| 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: V130I
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: V130I
| 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: V130I
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: V130I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
A |
13: 4,496,377 (GRCm39) |
D132E |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,112,986 (GRCm39) |
E844G |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,045,629 (GRCm39) |
M311L |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,169,069 (GRCm39) |
M153K |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,535,828 (GRCm39) |
D793G |
possibly damaging |
Het |
| Ces4a |
A |
G |
8: 105,858,614 (GRCm39) |
I11V |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,281,473 (GRCm39) |
L518P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,519 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,783 (GRCm39) |
N804D |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,339,401 (GRCm39) |
D565N |
probably benign |
Het |
| Fscb |
T |
A |
12: 64,519,997 (GRCm39) |
T490S |
unknown |
Het |
| Fuca1 |
A |
G |
4: 135,648,206 (GRCm39) |
D31G |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,166,668 (GRCm39) |
N220K |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,337 (GRCm39) |
F207L |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,522,684 (GRCm39) |
N70S |
probably benign |
Het |
| Ifna13 |
C |
A |
4: 88,562,157 (GRCm39) |
E156* |
probably null |
Het |
| Jmjd1c |
G |
A |
10: 67,054,162 (GRCm39) |
R22H |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,365,134 (GRCm39) |
V3209A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,105 (GRCm39) |
T1684A |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,359,442 (GRCm39) |
E598V |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,520,681 (GRCm39) |
V125E |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,371,615 (GRCm39) |
T278I |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,643 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,823 (GRCm39) |
C169* |
probably null |
Het |
| Or52z13 |
T |
G |
7: 103,247,444 (GRCm39) |
F307C |
possibly damaging |
Het |
| Or5k14 |
A |
T |
16: 58,692,959 (GRCm39) |
Y185N |
probably damaging |
Het |
| Orm1 |
A |
T |
4: 63,262,938 (GRCm39) |
E35V |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,503,839 (GRCm39) |
I58N |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,384,158 (GRCm39) |
E841G |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,468 (GRCm39) |
R154I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,531,355 (GRCm39) |
F455L |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,982 (GRCm39) |
D331E |
probably benign |
Het |
| Pus7l |
A |
T |
15: 94,438,143 (GRCm39) |
F234Y |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,990,722 (GRCm39) |
L632Q |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,819,015 (GRCm38) |
|
probably benign |
Het |
| Ro60 |
T |
A |
1: 143,641,517 (GRCm39) |
K315* |
probably null |
Het |
| Rom1 |
A |
T |
19: 8,905,471 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,352 (GRCm39) |
S311P |
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,820,182 (GRCm39) |
D355G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,707,077 (GRCm39) |
A574T |
probably damaging |
Het |
| Sox11 |
A |
G |
12: 27,392,313 (GRCm39) |
V32A |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,915,436 (GRCm39) |
Y107C |
probably damaging |
Het |
| Speer1a |
C |
A |
5: 11,394,205 (GRCm39) |
Y104* |
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,024,814 (GRCm39) |
T595A |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Tatdn2 |
T |
G |
6: 113,684,348 (GRCm39) |
I674S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,383,878 (GRCm39) |
S189R |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tor3a |
T |
C |
1: 156,483,373 (GRCm39) |
T350A |
probably benign |
Het |
| Ttr |
T |
G |
18: 20,799,550 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r129 |
A |
T |
7: 21,095,205 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,623 (GRCm39) |
M51T |
possibly damaging |
Het |
| Zfp141 |
T |
C |
7: 42,125,687 (GRCm39) |
T262A |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,427,596 (GRCm39) |
N108K |
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 |
|
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 |
|
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'- CTGCTACAATAGGCTGGGTACTC -3'
(R):5'- TATGCAGAGAAAGAGCAGTCCC -3'
Sequencing Primer
(F):5'- GGTACTCAAACTGTTATAGGGTCCC -3'
(R):5'- TCCCAGAAGATGAACACTGATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation