Incidental Mutation 'R2095:Armc3'
ID |
232015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc3
|
Ensembl Gene |
ENSMUSG00000037683 |
Gene Name |
armadillo repeat containing 3 |
Synonyms |
4921513G22Rik |
MMRRC Submission |
040099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R2095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19293740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 510
(D510E)
|
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: D510E
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048784 Gene: ENSMUSG00000037683 AA Change: D510E
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 |
probably benign
Transcript: ENSMUST00000114640
AA Change: D510E
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110287 Gene: ENSMUSG00000037683 AA Change: D510E
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
97% (58/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
C |
A |
4: 122,596,151 (GRCm39) |
Y127* |
probably null |
Het |
Adam33 |
C |
T |
2: 130,895,629 (GRCm39) |
G562D |
probably damaging |
Het |
Adh1 |
T |
C |
3: 137,988,557 (GRCm39) |
F177L |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,530,470 (GRCm39) |
T1439A |
probably damaging |
Het |
Arl5c |
C |
T |
11: 97,884,277 (GRCm39) |
E105K |
probably damaging |
Het |
Bbx |
T |
C |
16: 50,045,052 (GRCm39) |
E395G |
possibly damaging |
Het |
Cacna2d2 |
G |
A |
9: 107,404,364 (GRCm39) |
E1087K |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,043,529 (GRCm39) |
N113S |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,361,727 (GRCm39) |
S432P |
probably benign |
Het |
Ccn2 |
T |
C |
10: 24,472,377 (GRCm39) |
V140A |
probably benign |
Het |
Cd163 |
A |
G |
6: 124,294,781 (GRCm39) |
D615G |
probably damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,744 (GRCm39) |
D190E |
probably benign |
Het |
Clec9a |
T |
C |
6: 129,393,321 (GRCm39) |
L115P |
possibly damaging |
Het |
Cluh |
C |
T |
11: 74,552,550 (GRCm39) |
R532* |
probably null |
Het |
Cntnap5a |
T |
A |
1: 116,369,990 (GRCm39) |
L869Q |
probably damaging |
Het |
Cyp3a57 |
A |
T |
5: 145,305,944 (GRCm39) |
K143* |
probably null |
Het |
Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
Dtna |
T |
A |
18: 23,702,805 (GRCm39) |
L112Q |
probably damaging |
Het |
Fnta |
G |
A |
8: 26,489,907 (GRCm39) |
Q303* |
probably null |
Het |
Frs2 |
T |
C |
10: 116,910,507 (GRCm39) |
E285G |
probably benign |
Het |
Gabra4 |
T |
C |
5: 71,781,455 (GRCm39) |
I293V |
probably damaging |
Het |
Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
Gnl2 |
C |
T |
4: 124,928,111 (GRCm39) |
R49C |
probably damaging |
Het |
Helz |
T |
A |
11: 107,536,972 (GRCm39) |
Y275N |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,189,289 (GRCm39) |
E1231G |
probably damaging |
Het |
Kctd11 |
T |
A |
11: 69,770,402 (GRCm39) |
D212V |
probably damaging |
Het |
Klf3 |
T |
A |
5: 64,979,245 (GRCm39) |
M29K |
probably benign |
Het |
Klhl21 |
T |
C |
4: 152,093,850 (GRCm39) |
S151P |
probably benign |
Het |
Lsm14b |
A |
T |
2: 179,673,580 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,150,974 (GRCm39) |
|
probably benign |
Het |
Mov10 |
G |
A |
3: 104,708,847 (GRCm39) |
R389C |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,295,661 (GRCm39) |
M1071V |
possibly damaging |
Het |
Myh8 |
G |
T |
11: 67,177,050 (GRCm39) |
A401S |
probably benign |
Het |
Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,984,410 (GRCm39) |
|
probably null |
Het |
Or1e22 |
T |
A |
11: 73,377,420 (GRCm39) |
T77S |
probably damaging |
Het |
Or2l13 |
T |
C |
16: 19,305,681 (GRCm39) |
I31T |
probably benign |
Het |
Or4c11c |
T |
C |
2: 88,661,634 (GRCm39) |
Y58H |
probably damaging |
Het |
Or8g50 |
T |
A |
9: 39,648,557 (GRCm39) |
Y149N |
probably damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,619,375 (GRCm39) |
D388E |
probably benign |
Het |
Pgm3 |
T |
C |
9: 86,438,394 (GRCm39) |
T423A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,156,154 (GRCm39) |
T91S |
probably benign |
Het |
Sgcz |
T |
C |
8: 38,007,546 (GRCm39) |
|
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,871,376 (GRCm39) |
L79P |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,954,167 (GRCm39) |
T383A |
probably benign |
Het |
Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,071,764 (GRCm39) |
M2248K |
possibly damaging |
Het |
Stub1 |
A |
G |
17: 26,049,864 (GRCm39) |
Y304H |
probably damaging |
Het |
Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
Tbc1d1 |
C |
T |
5: 64,473,844 (GRCm39) |
S660L |
probably benign |
Het |
Tcea2 |
C |
A |
2: 181,328,725 (GRCm39) |
F259L |
probably damaging |
Het |
Tcp11l1 |
T |
A |
2: 104,512,185 (GRCm39) |
K482N |
probably damaging |
Het |
Trpv6 |
C |
T |
6: 41,598,690 (GRCm39) |
R645Q |
probably damaging |
Het |
Uaca |
T |
A |
9: 60,748,125 (GRCm39) |
S30T |
probably benign |
Het |
Ubap2 |
C |
G |
4: 41,206,901 (GRCm39) |
V492L |
possibly damaging |
Het |
Ube3c |
T |
C |
5: 29,873,038 (GRCm39) |
F1026S |
probably damaging |
Het |
Vmn2r8 |
T |
G |
5: 108,956,487 (GRCm39) |
D45A |
possibly damaging |
Het |
Zfp738 |
G |
T |
13: 67,819,422 (GRCm39) |
L180I |
probably 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 |
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 |
|
R5739:Armc3
|
UTSW |
2 |
19,258,728 (GRCm39) |
missense |
possibly damaging |
0.67 |
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'- TTGGCACATTCGAAAACAGTTG -3'
(R):5'- ACTAGGGAAAGATGGCCTGC -3'
Sequencing Primer
(F):5'- ACCCAGGATTCTATGTATGTCAGGC -3'
(R):5'- AAAGATGGCCTGCCCCAG -3'
|
Posted On |
2014-09-18 |