Incidental Mutation 'R4702:Armc3'
| ID |
356091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
041950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19314792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 822
(N822S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000114640]
|
| AlphaFold |
A2AU72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049255
AA Change: N822S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: N822S
| 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 damaging
Transcript: ENSMUST00000114640
AA Change: N834S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: N834S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,509 (GRCm39) |
T390A |
probably benign |
Het |
| Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
| Adra1a |
T |
C |
14: 66,875,008 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,958,935 (GRCm39) |
Y343H |
probably damaging |
Het |
| Antxr2 |
C |
T |
5: 98,097,028 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
G |
9: 21,209,591 (GRCm39) |
F362L |
probably benign |
Het |
| Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
| Atr |
A |
C |
9: 95,802,408 (GRCm39) |
T1767P |
possibly damaging |
Het |
| B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
| Bloc1s1 |
T |
A |
10: 128,759,267 (GRCm39) |
Q13L |
probably damaging |
Het |
| Blvra |
A |
C |
2: 126,933,982 (GRCm39) |
I125L |
probably benign |
Het |
| Caps2 |
T |
C |
10: 112,044,252 (GRCm39) |
F484L |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,767,968 (GRCm39) |
I188K |
possibly damaging |
Het |
| Cidea |
T |
A |
18: 67,500,498 (GRCm39) |
F187I |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,142,292 (GRCm39) |
N1025I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,926,676 (GRCm39) |
C565S |
probably benign |
Het |
| Cyp2d22 |
A |
C |
15: 82,260,118 (GRCm39) |
L22R |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,021,230 (GRCm39) |
|
probably null |
Het |
| Dnajb13 |
T |
C |
7: 100,153,748 (GRCm39) |
N229S |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,656,798 (GRCm39) |
V423A |
possibly damaging |
Het |
| Eif4e1b |
A |
T |
13: 54,935,138 (GRCm39) |
I222F |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,057,958 (GRCm39) |
N87Y |
unknown |
Het |
| Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
| Epha7 |
T |
A |
4: 28,961,425 (GRCm39) |
L890Q |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,168,826 (GRCm39) |
S1730T |
possibly damaging |
Het |
| Flrt3 |
A |
G |
2: 140,503,575 (GRCm39) |
F18L |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,883,543 (GRCm39) |
S396P |
probably damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,874 (GRCm39) |
I36T |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,894,947 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,802,546 (GRCm39) |
D10V |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,288 (GRCm39) |
S483P |
probably benign |
Het |
| Kcnv2 |
G |
C |
19: 27,300,967 (GRCm39) |
A273P |
probably damaging |
Het |
| Klc3 |
T |
G |
7: 19,129,756 (GRCm39) |
D371A |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,711,086 (GRCm39) |
L1567* |
probably null |
Het |
| Ldhal6b |
G |
T |
17: 5,468,582 (GRCm39) |
H117Q |
probably damaging |
Het |
| Lrriq1 |
G |
T |
10: 103,051,610 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Mrps31 |
T |
A |
8: 22,909,754 (GRCm39) |
L140Q |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,834 (GRCm39) |
T2119A |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,456 (GRCm39) |
D243G |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Papln |
C |
T |
12: 83,828,757 (GRCm39) |
T821I |
probably benign |
Het |
| Pitpnb |
T |
G |
5: 111,519,218 (GRCm39) |
V166G |
probably benign |
Het |
| Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,405,269 (GRCm39) |
S25R |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,653,038 (GRCm39) |
I175V |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,799,715 (GRCm39) |
Q687H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,741,404 (GRCm39) |
V584A |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,055,289 (GRCm39) |
L399S |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,727,235 (GRCm39) |
V370I |
probably damaging |
Het |
| Rasa3 |
G |
T |
8: 13,620,394 (GRCm39) |
D758E |
probably benign |
Het |
| Reck |
T |
C |
4: 43,898,060 (GRCm39) |
C113R |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,230,901 (GRCm39) |
T1316A |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,575,417 (GRCm39) |
F1009I |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,975 (GRCm39) |
N1035S |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,993,962 (GRCm39) |
S849T |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,462,857 (GRCm39) |
Y1060N |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,436 (GRCm39) |
L314P |
probably damaging |
Het |
| Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
| Slc7a14 |
T |
A |
3: 31,284,547 (GRCm39) |
Y263F |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,970,315 (GRCm39) |
S431P |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Spopl |
A |
T |
2: 23,405,309 (GRCm39) |
|
probably null |
Het |
| Stk10 |
A |
T |
11: 32,505,172 (GRCm39) |
T69S |
probably benign |
Het |
| Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
| Tec |
G |
A |
5: 72,941,074 (GRCm39) |
P161L |
possibly damaging |
Het |
| Tnip1 |
A |
G |
11: 54,815,228 (GRCm39) |
S339P |
probably benign |
Het |
| Tsen34 |
T |
A |
7: 3,703,632 (GRCm39) |
V290D |
probably damaging |
Het |
| Tuba1a |
T |
A |
15: 98,849,563 (GRCm39) |
I5F |
possibly damaging |
Het |
| Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,516 (GRCm39) |
R39G |
possibly damaging |
Het |
| Xylt2 |
A |
G |
11: 94,560,355 (GRCm39) |
Y307H |
possibly damaging |
Het |
| Zfp65 |
A |
G |
13: 67,872,341 (GRCm39) |
M1T |
probably null |
Het |
| Zmym4 |
T |
C |
4: 126,816,958 (GRCm39) |
I247V |
probably benign |
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 |
|
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'- AGCCCATGTATGGCTCCTAC -3'
(R):5'- ACGCGAAGACAATTTCTGGC -3'
Sequencing Primer
(F):5'- CCATTTTCTTGCTTACAGTCAAAC -3'
(R):5'- AGACAATTTCTGGCTTGGGTGATC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation