Incidental Mutation 'R6211:Armc3'
ID |
503434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc3
|
Ensembl Gene |
ENSMUSG00000037683 |
Gene Name |
armadillo repeat containing 3 |
Synonyms |
4921513G22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6211 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
G to A
at 19301614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000049255]
[ENSMUST00000114640]
|
AlphaFold |
A2AU72 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049255
|
SMART Domains |
Protein: ENSMUSP00000048784 Gene: ENSMUSG00000037683
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 null
Transcript: ENSMUST00000049255
|
SMART Domains |
Protein: ENSMUSP00000048784 Gene: ENSMUSG00000037683
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
|
SMART Domains |
Protein: ENSMUSP00000110287 Gene: ENSMUSG00000037683
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: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
100% (54/54) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
A |
T |
14: 54,881,503 (GRCm39) |
W391R |
probably damaging |
Het |
Arl6ip1 |
A |
T |
7: 117,726,473 (GRCm39) |
S18R |
probably benign |
Het |
Ccdc162 |
G |
T |
10: 41,506,141 (GRCm39) |
S883* |
probably null |
Het |
Cd300lg |
A |
G |
11: 101,944,995 (GRCm39) |
M358V |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,246,600 (GRCm39) |
V949A |
possibly damaging |
Het |
Cenpo |
C |
T |
12: 4,266,733 (GRCm39) |
S126N |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,243,503 (GRCm39) |
D1366E |
probably damaging |
Het |
Chd4 |
A |
G |
6: 125,078,248 (GRCm39) |
E169G |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,440 (GRCm39) |
T24A |
possibly damaging |
Het |
Clhc1 |
A |
G |
11: 29,528,145 (GRCm39) |
I558V |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,415,826 (GRCm39) |
R1440S |
probably damaging |
Het |
Cops3 |
A |
G |
11: 59,708,727 (GRCm39) |
|
probably benign |
Het |
Cxcr4 |
A |
G |
1: 128,517,187 (GRCm39) |
V158A |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,458,795 (GRCm39) |
M3781T |
probably damaging |
Het |
Dnai7 |
C |
T |
6: 145,146,217 (GRCm39) |
R95Q |
probably damaging |
Het |
Elovl5 |
C |
A |
9: 77,888,784 (GRCm39) |
T217K |
probably damaging |
Het |
Fbln7 |
G |
T |
2: 128,737,260 (GRCm39) |
M358I |
probably damaging |
Het |
Fbxl13 |
C |
T |
5: 21,689,019 (GRCm39) |
R763Q |
possibly damaging |
Het |
Gabrr3 |
C |
A |
16: 59,268,471 (GRCm39) |
N361K |
probably benign |
Het |
Garre1 |
A |
T |
7: 33,938,429 (GRCm39) |
H1035Q |
possibly damaging |
Het |
Gbp7 |
A |
G |
3: 142,251,754 (GRCm39) |
M534V |
probably benign |
Het |
Hcar2 |
G |
A |
5: 124,003,017 (GRCm39) |
T162I |
probably benign |
Het |
Hdc |
A |
T |
2: 126,435,897 (GRCm39) |
L658Q |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,955,602 (GRCm39) |
Y1306C |
probably damaging |
Het |
Homer3 |
C |
T |
8: 70,738,174 (GRCm39) |
R49C |
probably damaging |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 87,998,822 (GRCm39) |
N308D |
probably benign |
Het |
Itga8 |
G |
A |
2: 12,198,320 (GRCm39) |
T555M |
probably damaging |
Het |
Lrfn5 |
G |
T |
12: 61,886,256 (GRCm39) |
V15L |
probably benign |
Het |
Lrrk1 |
T |
C |
7: 65,952,458 (GRCm39) |
K493E |
possibly damaging |
Het |
Lyzl6 |
A |
G |
11: 103,525,889 (GRCm39) |
I77T |
probably damaging |
Het |
Mavs |
G |
T |
2: 131,082,311 (GRCm39) |
R65L |
probably damaging |
Het |
Mdn1 |
T |
G |
4: 32,696,269 (GRCm39) |
D1217E |
probably benign |
Het |
Or12d13 |
A |
T |
17: 37,647,599 (GRCm39) |
F175I |
possibly damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,954 (GRCm39) |
Y220* |
probably null |
Het |
Or9i1 |
A |
G |
19: 13,839,938 (GRCm39) |
I260M |
probably benign |
Het |
Otof |
C |
A |
5: 30,529,244 (GRCm39) |
V1762L |
probably damaging |
Het |
Pcdha12 |
T |
C |
18: 37,153,374 (GRCm39) |
L31P |
probably damaging |
Het |
Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
Qrich2 |
A |
T |
11: 116,344,368 (GRCm39) |
D1759E |
probably benign |
Het |
Rps6ka1 |
A |
T |
4: 133,596,617 (GRCm39) |
F33Y |
probably damaging |
Het |
Rxfp2 |
G |
A |
5: 149,967,591 (GRCm39) |
|
probably null |
Het |
Slc23a4 |
A |
T |
6: 34,933,896 (GRCm39) |
I202N |
probably damaging |
Het |
Slc24a5 |
A |
T |
2: 124,930,171 (GRCm39) |
I491F |
probably benign |
Het |
Slco1a1 |
T |
A |
6: 141,854,775 (GRCm39) |
K625N |
probably benign |
Het |
Snx31 |
A |
G |
15: 36,547,030 (GRCm39) |
V51A |
probably damaging |
Het |
Sox6 |
G |
T |
7: 115,400,697 (GRCm39) |
H48Q |
probably damaging |
Het |
Tas2r109 |
A |
T |
6: 132,957,587 (GRCm39) |
Y114* |
probably null |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Timm13 |
A |
C |
10: 80,736,314 (GRCm39) |
|
probably null |
Het |
Tpsb2 |
G |
A |
17: 25,586,737 (GRCm39) |
A250T |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,760,492 (GRCm39) |
I131T |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,976,554 (GRCm39) |
|
probably null |
Het |
Vmn2r35 |
T |
A |
7: 7,789,527 (GRCm39) |
I737F |
probably damaging |
Het |
Wdr46 |
C |
A |
17: 34,163,459 (GRCm39) |
T339K |
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 |
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 |
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'- AGCTGATGTGGCAAAGTTGTC -3'
(R):5'- TGCTGCATAATCACAAGTTGTC -3'
Sequencing Primer
(F):5'- CGGTAGAGGTTGAGTTTCCCTAAAC -3'
(R):5'- CACAAGTTGTCACGATTATAACTAGG -3'
|
Posted On |
2018-02-27 |