Incidental Mutation 'R8060:Armc3'
| ID |
619631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
067496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19293720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 504
(V504L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000114640]
|
| AlphaFold |
A2AU72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049255
AA Change: V504L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: V504L
| 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: V504L
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: V504L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Ano5 |
T |
A |
7: 51,237,531 (GRCm39) |
V785E |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,004,446 (GRCm39) |
R399S |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,222,452 (GRCm39) |
|
probably benign |
Het |
| Asb10 |
T |
A |
5: 24,738,833 (GRCm39) |
Y408F |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Ccdc112 |
T |
C |
18: 46,426,529 (GRCm39) |
I131M |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,588 (GRCm39) |
S442T |
unknown |
Het |
| Cit |
G |
A |
5: 116,046,786 (GRCm39) |
V400M |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,886,703 (GRCm39) |
F772L |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,714,580 (GRCm39) |
I242F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,770,132 (GRCm39) |
D1797E |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,592,358 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,329,436 (GRCm39) |
K441R |
possibly damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,259 (GRCm39) |
E87G |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,533,341 (GRCm39) |
M225L |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,341,534 (GRCm39) |
S502P |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,447,768 (GRCm39) |
F185L |
possibly damaging |
Het |
| Hoxd11 |
G |
A |
2: 74,512,720 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,939,837 (GRCm39) |
V330A |
|
Het |
| Mast4 |
T |
C |
13: 102,874,184 (GRCm39) |
E1728G |
possibly damaging |
Het |
| Minpp1 |
T |
A |
19: 32,471,303 (GRCm39) |
F284I |
probably damaging |
Het |
| Moxd1 |
A |
G |
10: 24,177,510 (GRCm39) |
S609G |
unknown |
Het |
| Myh1 |
A |
C |
11: 67,106,077 (GRCm39) |
M1231L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,765 (GRCm39) |
I110T |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,693 (GRCm39) |
N180I |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,848 (GRCm39) |
T86A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,612 (GRCm39) |
T3A |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,317 (GRCm39) |
Y258F |
probably damaging |
Het |
| Or6c205 |
A |
C |
10: 129,086,915 (GRCm39) |
T171P |
possibly damaging |
Het |
| Pln |
A |
T |
10: 53,219,993 (GRCm39) |
I12F |
unknown |
Het |
| Pomt2 |
G |
A |
12: 87,175,780 (GRCm39) |
A388V |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,823,497 (GRCm39) |
|
probably null |
Het |
| Rnpep |
T |
C |
1: 135,194,658 (GRCm39) |
Y459C |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,336 (GRCm39) |
T498A |
probably damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,835,836 (GRCm39) |
L338M |
possibly damaging |
Het |
| Smco2 |
C |
A |
6: 146,768,283 (GRCm39) |
Q221K |
probably benign |
Het |
| Snx20 |
G |
T |
8: 89,354,273 (GRCm39) |
C152* |
probably null |
Het |
| Spata16 |
T |
C |
3: 26,894,869 (GRCm39) |
L306P |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,373,065 (GRCm39) |
F520L |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,051,616 (GRCm39) |
D2290E |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,117,505 (GRCm39) |
T250I |
probably benign |
Het |
| Trim34a |
G |
T |
7: 103,910,183 (GRCm39) |
W328C |
probably damaging |
Het |
| Trim42 |
T |
G |
9: 97,245,532 (GRCm39) |
M423L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,954,875 (GRCm39) |
K1055E |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,651,465 (GRCm39) |
K238* |
probably null |
Het |
| Tshr |
A |
C |
12: 91,505,134 (GRCm39) |
I691L |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,058,124 (GRCm39) |
H560L |
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 |
|
|
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 |
|
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'- TGGCACATTCGAAAACAGTTG -3'
(R):5'- GCCCTTTCTGAGTGCTAGTC -3'
Sequencing Primer
(F):5'- ACCCAGGATTCTATGTATGTCAGGC -3'
(R):5'- CTAGTCTTTTTGAGAGTACAGGCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation