Incidental Mutation 'R7844:Armc3'
| ID |
606489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
045898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19258829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 299
(I299V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000114640]
|
| AlphaFold |
A2AU72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049255
AA Change: I299V
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: I299V
| 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: I299V
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: I299V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,423 (GRCm39) |
E65G |
unknown |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,637,318 (GRCm39) |
I27F |
probably benign |
Het |
| Abcg5 |
A |
T |
17: 84,981,018 (GRCm39) |
N190K |
possibly damaging |
Het |
| Abhd6 |
A |
C |
14: 8,039,792 (GRCm38) |
H55P |
probably benign |
Het |
| Acox3 |
A |
T |
5: 35,764,492 (GRCm39) |
Q535L |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,131,276 (GRCm39) |
W132R |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,901,039 (GRCm39) |
D956G |
possibly damaging |
Het |
| Bptf |
C |
A |
11: 106,964,887 (GRCm39) |
V1436F |
probably damaging |
Het |
| Brd9 |
A |
G |
13: 74,086,652 (GRCm39) |
Y51C |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,410,873 (GRCm39) |
W453R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,737,920 (GRCm39) |
Q2326R |
unknown |
Het |
| Col4a2 |
G |
T |
8: 11,475,453 (GRCm39) |
E626* |
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,952,949 (GRCm39) |
I208M |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 108,022,860 (GRCm39) |
R16G |
probably benign |
Het |
| Gabrg1 |
T |
C |
5: 70,931,675 (GRCm39) |
Y356C |
probably damaging |
Het |
| Gbp7 |
G |
T |
3: 142,242,147 (GRCm39) |
V94L |
probably benign |
Het |
| Gm4884 |
A |
C |
7: 40,690,122 (GRCm39) |
Q6P |
probably benign |
Het |
| Gm9767 |
A |
T |
10: 25,954,255 (GRCm39) |
|
probably benign |
Het |
| Gopc |
T |
C |
10: 52,215,845 (GRCm39) |
S448G |
possibly damaging |
Het |
| Gpr15 |
A |
T |
16: 58,538,873 (GRCm39) |
I72N |
probably damaging |
Het |
| Hsd17b11 |
T |
A |
5: 104,166,132 (GRCm39) |
T76S |
probably damaging |
Het |
| Inhbe |
A |
G |
10: 127,186,779 (GRCm39) |
S134P |
possibly damaging |
Het |
| Inpp4b |
G |
A |
8: 82,467,949 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,322,062 (GRCm39) |
V556A |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,349,180 (GRCm39) |
F106I |
probably damaging |
Het |
| Krt7 |
G |
A |
15: 101,310,515 (GRCm39) |
G54D |
possibly damaging |
Het |
| Mecom |
T |
G |
3: 30,063,973 (GRCm39) |
Y39S |
unknown |
Het |
| Mrpl49 |
C |
T |
19: 6,105,200 (GRCm39) |
R87H |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,085,300 (GRCm39) |
D531G |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,262,006 (GRCm39) |
K718N |
possibly damaging |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or52d1 |
T |
G |
7: 103,755,690 (GRCm39) |
L68W |
probably damaging |
Het |
| Pigu |
A |
C |
2: 155,134,640 (GRCm39) |
Y388* |
probably null |
Het |
| Pirb |
A |
T |
7: 3,722,410 (GRCm39) |
C144* |
probably null |
Het |
| Pkm |
A |
G |
9: 59,578,005 (GRCm39) |
H274R |
probably benign |
Het |
| Plch2 |
C |
A |
4: 155,073,922 (GRCm39) |
D927Y |
probably damaging |
Het |
| Rock1 |
T |
G |
18: 10,104,173 (GRCm39) |
K596Q |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,722,732 (GRCm39) |
M692K |
probably benign |
Het |
| Serpine1 |
C |
A |
5: 137,100,043 (GRCm39) |
G39* |
probably null |
Het |
| Serpine2 |
T |
C |
1: 79,794,516 (GRCm39) |
Q139R |
probably benign |
Het |
| Sipa1l1 |
C |
A |
12: 82,444,267 (GRCm39) |
R993S |
probably damaging |
Het |
| Slc12a9 |
T |
C |
5: 137,330,448 (GRCm39) |
T86A |
probably damaging |
Het |
| Slc30a6 |
G |
A |
17: 74,711,088 (GRCm39) |
|
probably null |
Het |
| Snrnp48 |
A |
G |
13: 38,393,965 (GRCm39) |
E90G |
probably null |
Het |
| Spaca7b |
A |
T |
8: 11,706,174 (GRCm39) |
I120K |
probably benign |
Het |
| Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
| Spon1 |
G |
A |
7: 113,629,567 (GRCm39) |
V404I |
probably benign |
Het |
| Tada3 |
C |
T |
6: 113,347,921 (GRCm39) |
R300H |
probably benign |
Het |
| Tcl1b5 |
G |
A |
12: 105,142,815 (GRCm39) |
|
probably null |
Het |
| Tdrd9 |
A |
G |
12: 111,964,386 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Timm44 |
A |
G |
8: 4,319,976 (GRCm39) |
L64P |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,150,404 (GRCm39) |
L492P |
probably damaging |
Het |
| Trip11 |
T |
G |
12: 101,844,403 (GRCm39) |
Q1565P |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,759,340 (GRCm39) |
I1148T |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,296 (GRCm39) |
E704G |
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,537,944 (GRCm39) |
R541* |
probably null |
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 |
|
|
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 |
|
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'- GGACAATTTTCAAGCTGTGTCTG -3'
(R):5'- GTTTGTAACACCCTACCCCTGG -3'
Sequencing Primer
(F):5'- GGATATGGACACCATGGT -3'
(R):5'- CCTGGCAAAGCAATCTGTATTTTAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation