Incidental Mutation 'R5466:Armc5'
| ID |
433241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc5
|
| Ensembl Gene |
ENSMUSG00000042178 |
| Gene Name |
armadillo repeat containing 5 |
| Synonyms |
|
| MMRRC Submission |
043027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.801)
|
| Stock # |
R5466 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127836514-127844272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127839336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 218
(N218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044660]
[ENSMUST00000078816]
|
| AlphaFold |
Q5EBP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044660
AA Change: N218S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178
AA Change: N218S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
104 |
N/A |
INTRINSIC |
|
ARM
|
137 |
179 |
2.89e-1 |
SMART |
|
ARM
|
180 |
221 |
3.32e-1 |
SMART |
|
ARM
|
222 |
263 |
2.93e-2 |
SMART |
|
Blast:ARM
|
265 |
306 |
1e-8 |
BLAST |
|
low complexity region
|
313 |
338 |
N/A |
INTRINSIC |
|
ARM
|
353 |
399 |
4.88e0 |
SMART |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
690 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
742 |
854 |
9.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078816
|
| SMART Domains |
Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
88 |
110 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
116 |
138 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
256 |
278 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
2.53e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206509
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality with defects in mesoderm formation and gastrulation. The few survbiving mice are smaller than normal. Mice heterozygous for the same allele exhibit abnormal adrenocortical morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
| Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,388,441 (GRCm39) |
Q406* |
probably null |
Het |
| Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
| Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,869,904 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
| Or4c117 |
A |
T |
2: 88,955,477 (GRCm39) |
F199L |
probably benign |
Het |
| Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
| Pcdha1 |
G |
A |
18: 37,065,312 (GRCm39) |
A659T |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
| Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,751,698 (GRCm39) |
S690P |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Armc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Armc5
|
APN |
7 |
127,843,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0538:Armc5
|
UTSW |
7 |
127,843,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Armc5
|
UTSW |
7 |
127,839,242 (GRCm39) |
unclassified |
probably benign |
|
|
R0920:Armc5
|
UTSW |
7 |
127,839,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Armc5
|
UTSW |
7 |
127,839,677 (GRCm39) |
missense |
probably benign |
|
|
R2943:Armc5
|
UTSW |
7 |
127,839,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Armc5
|
UTSW |
7 |
127,837,717 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4679:Armc5
|
UTSW |
7 |
127,839,276 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4910:Armc5
|
UTSW |
7 |
127,839,900 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5954:Armc5
|
UTSW |
7 |
127,841,444 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6912:Armc5
|
UTSW |
7 |
127,839,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Armc5
|
UTSW |
7 |
127,839,470 (GRCm39) |
nonsense |
probably null |
|
|
R8410:Armc5
|
UTSW |
7 |
127,839,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Armc5
|
UTSW |
7 |
127,841,783 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8783:Armc5
|
UTSW |
7 |
127,837,425 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Armc5
|
UTSW |
7 |
127,843,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Armc5
|
UTSW |
7 |
127,840,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Armc5
|
UTSW |
7 |
127,839,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCACTCTGCTGGTGAGAG -3'
(R):5'- CCTCACGTATTGCCCGTTTAGG -3'
Sequencing Primer
(F):5'- CTCTGCTGGTGAGAGGCTGTG -3'
(R):5'- CCGTTTAGGGTGAGAAGCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation