Incidental Mutation 'R5739:Armc3'
ID |
444660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc3
|
Ensembl Gene |
ENSMUSG00000037683 |
Gene Name |
armadillo repeat containing 3 |
Synonyms |
4921513G22Rik |
MMRRC Submission |
043351-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R5739 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19258728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 265
(D265G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000114640]
|
AlphaFold |
A2AU72 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049255
AA Change: D265G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048784 Gene: ENSMUSG00000037683 AA Change: D265G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
ARM
|
56 |
96 |
2.07e-2 |
SMART |
ARM
|
97 |
138 |
9.84e1 |
SMART |
ARM
|
139 |
179 |
7.86e-3 |
SMART |
ARM
|
180 |
220 |
7.63e0 |
SMART |
ARM
|
221 |
262 |
7.76e1 |
SMART |
low complexity region
|
293 |
303 |
N/A |
INTRINSIC |
ARM
|
305 |
345 |
3.91e1 |
SMART |
ARM
|
346 |
385 |
2.93e-2 |
SMART |
ARM
|
387 |
427 |
7.74e-2 |
SMART |
Blast:ARM
|
428 |
468 |
3e-11 |
BLAST |
ARM
|
469 |
509 |
1.45e-1 |
SMART |
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
low complexity region
|
583 |
595 |
N/A |
INTRINSIC |
low complexity region
|
620 |
639 |
N/A |
INTRINSIC |
low complexity region
|
675 |
696 |
N/A |
INTRINSIC |
Pfam:EDR1
|
723 |
857 |
3.1e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114640
AA Change: D265G
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110287 Gene: ENSMUSG00000037683 AA Change: D265G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
ARM
|
56 |
96 |
2.07e-2 |
SMART |
ARM
|
97 |
138 |
9.84e1 |
SMART |
ARM
|
139 |
179 |
7.86e-3 |
SMART |
ARM
|
180 |
220 |
7.63e0 |
SMART |
ARM
|
221 |
262 |
7.76e1 |
SMART |
low complexity region
|
293 |
303 |
N/A |
INTRINSIC |
ARM
|
305 |
345 |
3.91e1 |
SMART |
ARM
|
346 |
385 |
2.93e-2 |
SMART |
ARM
|
387 |
427 |
7.74e-2 |
SMART |
Blast:ARM
|
428 |
468 |
3e-11 |
BLAST |
ARM
|
469 |
509 |
1.45e-1 |
SMART |
Pfam:EDR1
|
549 |
868 |
1.4e-41 |
PFAM |
|
Meta Mutation Damage Score |
0.1282 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (82/82) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
T |
9: 46,220,717 (GRCm39) |
S50T |
probably benign |
Het |
A930011G23Rik |
A |
G |
5: 99,369,289 (GRCm39) |
L529P |
probably damaging |
Het |
Acer2 |
A |
T |
4: 86,818,792 (GRCm39) |
N147Y |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,150,901 (GRCm39) |
E353G |
probably damaging |
Het |
Alg6 |
T |
C |
4: 99,632,737 (GRCm39) |
F60L |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,811,260 (GRCm39) |
D120V |
probably damaging |
Het |
Aurkc |
A |
T |
7: 7,005,859 (GRCm39) |
Y249F |
probably benign |
Het |
Bmal1 |
G |
A |
7: 112,884,238 (GRCm39) |
R92Q |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,389,528 (GRCm39) |
I274V |
probably benign |
Het |
Camk2n2 |
C |
A |
16: 20,439,830 (GRCm39) |
G39C |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,880,710 (GRCm39) |
L419P |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,141,388 (GRCm39) |
M3117V |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,704,357 (GRCm39) |
E280G |
probably benign |
Het |
Cherp |
TGCTGGTGGTGGGG |
TG |
8: 73,221,659 (GRCm39) |
|
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,098,646 (GRCm39) |
V494A |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
Crb2 |
T |
G |
2: 37,683,666 (GRCm39) |
V1056G |
probably damaging |
Het |
Crtac1 |
A |
G |
19: 42,290,612 (GRCm39) |
F363S |
probably damaging |
Het |
Dipk2a |
A |
T |
9: 94,402,594 (GRCm39) |
V356E |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,243,715 (GRCm39) |
S449G |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,273,152 (GRCm39) |
I2427F |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,937,981 (GRCm39) |
D1619E |
probably benign |
Het |
Dock3 |
A |
T |
9: 106,850,995 (GRCm39) |
S836T |
possibly damaging |
Het |
Donson |
A |
T |
16: 91,478,117 (GRCm39) |
|
probably null |
Het |
Drc3 |
G |
A |
11: 60,265,956 (GRCm39) |
R215H |
possibly damaging |
Het |
Entpd2 |
T |
C |
2: 25,289,504 (GRCm39) |
S329P |
possibly damaging |
Het |
Eya2 |
T |
C |
2: 165,603,857 (GRCm39) |
S332P |
probably damaging |
Het |
Fam83f |
T |
A |
15: 80,576,206 (GRCm39) |
Y286N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,037,283 (GRCm39) |
V3645A |
probably benign |
Het |
G2e3 |
T |
C |
12: 51,419,287 (GRCm39) |
F668L |
possibly damaging |
Het |
Gm14403 |
T |
A |
2: 177,201,040 (GRCm39) |
C329S |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,684,448 (GRCm39) |
T374I |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,634,225 (GRCm39) |
|
probably null |
Het |
Hrnr |
T |
C |
3: 93,230,436 (GRCm39) |
S225P |
unknown |
Het |
Ifi202b |
C |
T |
1: 173,798,918 (GRCm39) |
|
probably null |
Het |
Il10ra |
A |
T |
9: 45,167,368 (GRCm39) |
D394E |
possibly damaging |
Het |
Itga2b |
A |
T |
11: 102,356,735 (GRCm39) |
D275E |
probably benign |
Het |
Jaml |
A |
T |
9: 45,000,026 (GRCm39) |
D108V |
probably damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
Lrrtm1 |
T |
C |
6: 77,221,872 (GRCm39) |
V443A |
probably damaging |
Het |
Mkln1 |
T |
A |
6: 31,473,637 (GRCm39) |
S126R |
probably benign |
Het |
Myo19 |
T |
C |
11: 84,788,450 (GRCm39) |
I354T |
probably damaging |
Het |
Nucb1 |
A |
T |
7: 45,151,084 (GRCm39) |
L99Q |
probably damaging |
Het |
Or4f59 |
A |
G |
2: 111,873,128 (GRCm39) |
F83S |
probably damaging |
Het |
Pask |
A |
G |
1: 93,249,778 (GRCm39) |
S541P |
probably benign |
Het |
Pdpr |
A |
T |
8: 111,861,252 (GRCm39) |
I749F |
possibly damaging |
Het |
Pgap6 |
T |
A |
17: 26,339,425 (GRCm39) |
F580I |
probably damaging |
Het |
Phyhipl |
T |
C |
10: 70,395,399 (GRCm39) |
D269G |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,523,223 (GRCm39) |
D110G |
probably benign |
Het |
Ppox |
A |
G |
1: 171,107,570 (GRCm39) |
L115P |
probably damaging |
Het |
Ppp1r12c |
A |
G |
7: 4,500,281 (GRCm39) |
L94P |
probably damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,143,276 (GRCm39) |
M141K |
probably benign |
Het |
Prl3d1 |
A |
T |
13: 27,283,995 (GRCm39) |
H188L |
probably benign |
Het |
Psmb3 |
T |
A |
11: 97,604,296 (GRCm39) |
|
probably benign |
Het |
Pxdn |
T |
A |
12: 30,032,333 (GRCm39) |
S150T |
probably benign |
Het |
Ripor3 |
T |
C |
2: 167,823,203 (GRCm39) |
T903A |
probably damaging |
Het |
Rnase4 |
T |
C |
14: 51,342,306 (GRCm39) |
L10S |
probably benign |
Het |
Rnf224 |
T |
C |
2: 25,126,012 (GRCm39) |
T114A |
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,269,619 (GRCm39) |
E1735V |
probably benign |
Het |
Rrp1b |
T |
A |
17: 32,264,950 (GRCm39) |
Y60N |
probably damaging |
Het |
Rsbn1l |
A |
T |
5: 21,110,814 (GRCm39) |
V508E |
probably damaging |
Het |
Rubcnl |
T |
C |
14: 75,278,381 (GRCm39) |
|
probably null |
Het |
Rxfp4 |
A |
G |
3: 88,559,209 (GRCm39) |
|
probably benign |
Het |
Sdccag8 |
A |
G |
1: 176,653,797 (GRCm39) |
T85A |
probably benign |
Het |
Slc46a1 |
A |
T |
11: 78,357,975 (GRCm39) |
I343F |
possibly damaging |
Het |
Ssh2 |
A |
G |
11: 77,340,639 (GRCm39) |
D597G |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,044,239 (GRCm39) |
V3942E |
possibly damaging |
Het |
Timd4 |
T |
C |
11: 46,708,573 (GRCm39) |
S200P |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,265,834 (GRCm39) |
|
probably null |
Het |
Trbv16 |
A |
G |
6: 41,129,013 (GRCm39) |
T66A |
probably benign |
Het |
Ttc3 |
A |
T |
16: 94,240,183 (GRCm39) |
K1103* |
probably null |
Het |
Ttc7b |
A |
G |
12: 100,350,492 (GRCm39) |
V458A |
probably damaging |
Het |
Ubxn10 |
A |
G |
4: 138,448,134 (GRCm39) |
S181P |
probably benign |
Het |
Vmn2r11 |
A |
G |
5: 109,207,114 (GRCm39) |
|
probably null |
Het |
Vmn2r26 |
A |
T |
6: 124,002,925 (GRCm39) |
N112Y |
probably benign |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Zc3h10 |
T |
C |
10: 128,380,670 (GRCm39) |
N229S |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,226,867 (GRCm39) |
*2247W |
probably null |
Het |
Zfyve1 |
C |
A |
12: 83,621,910 (GRCm39) |
V162L |
possibly damaging |
Het |
|
Other mutations in Armc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00535:Armc3
|
APN |
2 |
19,308,669 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01123:Armc3
|
APN |
2 |
19,206,616 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01142:Armc3
|
APN |
2 |
19,302,709 (GRCm39) |
splice site |
probably benign |
|
IGL01556:Armc3
|
APN |
2 |
19,273,957 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02145:Armc3
|
APN |
2 |
19,290,948 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02145:Armc3
|
APN |
2 |
19,301,671 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02152:Armc3
|
APN |
2 |
19,290,948 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02154:Armc3
|
APN |
2 |
19,290,948 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02243:Armc3
|
APN |
2 |
19,290,948 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02244:Armc3
|
APN |
2 |
19,290,948 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02516:Armc3
|
APN |
2 |
19,305,317 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02691:Armc3
|
APN |
2 |
19,240,295 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03151:Armc3
|
APN |
2 |
19,243,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03190:Armc3
|
APN |
2 |
19,293,761 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03288:Armc3
|
APN |
2 |
19,240,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03338:Armc3
|
APN |
2 |
19,253,512 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0015:Armc3
|
UTSW |
2 |
19,301,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0015:Armc3
|
UTSW |
2 |
19,301,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0256:Armc3
|
UTSW |
2 |
19,274,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Armc3
|
UTSW |
2 |
19,300,204 (GRCm39) |
missense |
probably damaging |
0.96 |
R1326:Armc3
|
UTSW |
2 |
19,314,935 (GRCm39) |
makesense |
probably null |
|
R1470:Armc3
|
UTSW |
2 |
19,243,547 (GRCm39) |
missense |
probably benign |
|
R1470:Armc3
|
UTSW |
2 |
19,243,547 (GRCm39) |
missense |
probably benign |
|
R1489:Armc3
|
UTSW |
2 |
19,314,858 (GRCm39) |
missense |
probably benign |
0.01 |
R1990:Armc3
|
UTSW |
2 |
19,297,953 (GRCm39) |
missense |
probably damaging |
0.97 |
R1991:Armc3
|
UTSW |
2 |
19,297,953 (GRCm39) |
missense |
probably damaging |
0.97 |
R1992:Armc3
|
UTSW |
2 |
19,297,953 (GRCm39) |
missense |
probably damaging |
0.97 |
R2002:Armc3
|
UTSW |
2 |
19,293,747 (GRCm39) |
missense |
probably benign |
0.01 |
R2095:Armc3
|
UTSW |
2 |
19,293,740 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2127:Armc3
|
UTSW |
2 |
19,206,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Armc3
|
UTSW |
2 |
19,253,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R2697:Armc3
|
UTSW |
2 |
19,308,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R3809:Armc3
|
UTSW |
2 |
19,305,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R3897:Armc3
|
UTSW |
2 |
19,273,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4107:Armc3
|
UTSW |
2 |
19,293,720 (GRCm39) |
missense |
probably benign |
0.13 |
R4326:Armc3
|
UTSW |
2 |
19,305,284 (GRCm39) |
missense |
probably damaging |
0.97 |
R4464:Armc3
|
UTSW |
2 |
19,253,470 (GRCm39) |
missense |
probably damaging |
0.99 |
R4702:Armc3
|
UTSW |
2 |
19,314,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Armc3
|
UTSW |
2 |
19,297,791 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5370:Armc3
|
UTSW |
2 |
19,290,873 (GRCm39) |
missense |
probably benign |
0.00 |
R5518:Armc3
|
UTSW |
2 |
19,302,739 (GRCm39) |
missense |
probably benign |
0.28 |
R5718:Armc3
|
UTSW |
2 |
19,308,610 (GRCm39) |
nonsense |
probably null |
|
R5913:Armc3
|
UTSW |
2 |
19,314,858 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6211:Armc3
|
UTSW |
2 |
19,301,614 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6245:Armc3
|
UTSW |
2 |
19,253,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R6841:Armc3
|
UTSW |
2 |
19,206,630 (GRCm39) |
splice site |
probably null |
|
R7003:Armc3
|
UTSW |
2 |
19,274,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7190:Armc3
|
UTSW |
2 |
19,297,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R7499:Armc3
|
UTSW |
2 |
19,290,790 (GRCm39) |
missense |
probably benign |
0.03 |
R7738:Armc3
|
UTSW |
2 |
19,293,761 (GRCm39) |
missense |
probably damaging |
0.99 |
R7844:Armc3
|
UTSW |
2 |
19,258,829 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7919:Armc3
|
UTSW |
2 |
19,290,906 (GRCm39) |
missense |
probably benign |
0.00 |
R8060:Armc3
|
UTSW |
2 |
19,293,720 (GRCm39) |
missense |
probably benign |
0.08 |
R8111:Armc3
|
UTSW |
2 |
19,301,674 (GRCm39) |
missense |
probably benign |
|
R8406:Armc3
|
UTSW |
2 |
19,240,365 (GRCm39) |
missense |
probably damaging |
0.98 |
R8485:Armc3
|
UTSW |
2 |
19,297,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R8773:Armc3
|
UTSW |
2 |
19,293,667 (GRCm39) |
missense |
probably benign |
0.01 |
R8940:Armc3
|
UTSW |
2 |
19,240,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R9441:Armc3
|
UTSW |
2 |
19,253,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1177:Armc3
|
UTSW |
2 |
19,290,802 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGGACTTCTGCCTCATCTGG -3'
(R):5'- TTGATCAACATTGGGAATGCAAAGG -3'
Sequencing Primer
(F):5'- GAAATGTCCCTCATAGGCTCATGTG -3'
(R):5'- TGCAAAGGGAAGATGTATGCC -3'
|
Posted On |
2016-11-21 |