Incidental Mutation 'R8773:Armc3'
| ID |
664518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
068627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19293667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 486
(V486A)
|
| 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: V486A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: V486A
| 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: V486A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: V486A
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (63/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,314,062 (GRCm39) |
S539T |
possibly damaging |
Het |
| Abcc6 |
C |
T |
7: 45,634,569 (GRCm39) |
R1136Q |
probably benign |
Het |
| Abhd12b |
A |
C |
12: 70,213,708 (GRCm39) |
|
probably null |
Het |
| Agk |
T |
G |
6: 40,334,050 (GRCm39) |
V98G |
possibly damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,252 (GRCm39) |
S132P |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,142,046 (GRCm39) |
S322P |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,507,200 (GRCm39) |
K131E |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
| Bnc1 |
C |
T |
7: 81,623,719 (GRCm39) |
G503S |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,987,704 (GRCm39) |
V2683F |
unknown |
Het |
| Btbd7 |
A |
T |
12: 102,804,241 (GRCm39) |
N266K |
probably benign |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,597,681 (GRCm39) |
V76A |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,839,346 (GRCm39) |
D350N |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,913 (GRCm39) |
D515G |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,045,667 (GRCm39) |
N145I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,696,171 (GRCm39) |
D3239V |
unknown |
Het |
| Col9a1 |
T |
A |
1: 24,224,208 (GRCm39) |
I130N |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,840,913 (GRCm39) |
W460R |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,417,583 (GRCm39) |
F56S |
probably damaging |
Het |
| Dnaaf1 |
A |
G |
8: 120,302,194 (GRCm39) |
I32V |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,958,950 (GRCm39) |
T2978S |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,716,056 (GRCm39) |
D302E |
probably damaging |
Het |
| Faf1 |
T |
A |
4: 109,699,507 (GRCm39) |
F351I |
possibly damaging |
Het |
| Gimap8 |
C |
A |
6: 48,633,545 (GRCm39) |
Q455K |
probably benign |
Het |
| Hps6 |
C |
G |
19: 45,994,141 (GRCm39) |
R693G |
possibly damaging |
Het |
| Irx1 |
C |
T |
13: 72,107,635 (GRCm39) |
G349D |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,710 (GRCm39) |
T271A |
possibly damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,983,679 (GRCm39) |
H308R |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,642,953 (GRCm39) |
N947K |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,419 (GRCm39) |
I626F |
probably damaging |
Het |
| Mrtfa |
T |
C |
15: 80,902,274 (GRCm39) |
S349G |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 49,015,900 (GRCm39) |
S1859P |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,167,712 (GRCm39) |
D728E |
probably benign |
Het |
| Or1j8 |
A |
G |
2: 36,192,387 (GRCm39) |
T279A |
probably benign |
Het |
| Or8c19-ps1 |
G |
T |
9: 38,220,516 (GRCm39) |
V142F |
probably benign |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,562 (GRCm39) |
S631C |
probably damaging |
Het |
| Pcdhga11 |
C |
A |
18: 37,890,364 (GRCm39) |
Y457* |
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,829,823 (GRCm39) |
I757T |
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,389,348 (GRCm39) |
|
probably benign |
Het |
| Pdf |
A |
G |
8: 107,775,100 (GRCm39) |
V44A |
possibly damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,503 (GRCm39) |
T194A |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,819,583 (GRCm39) |
*1192L |
probably null |
Het |
| Ptk7 |
A |
G |
17: 46,877,193 (GRCm39) |
F955S |
possibly damaging |
Het |
| Rbp3 |
C |
A |
14: 33,684,492 (GRCm39) |
Q1174K |
possibly damaging |
Het |
| Rufy1 |
T |
C |
11: 50,321,796 (GRCm39) |
D46G |
possibly damaging |
Het |
| Sbf2 |
A |
G |
7: 109,948,202 (GRCm39) |
V1216A |
probably benign |
Het |
| Serpina11 |
A |
G |
12: 103,952,722 (GRCm39) |
V18A |
unknown |
Het |
| Serpinb6a |
T |
A |
13: 34,115,543 (GRCm39) |
N47I |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,456,924 (GRCm39) |
H564R |
probably damaging |
Het |
| Sirt7 |
T |
A |
11: 120,514,888 (GRCm39) |
R115* |
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,059,290 (GRCm39) |
|
probably benign |
Het |
| Stra8 |
T |
A |
6: 34,912,581 (GRCm39) |
S331T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,380,883 (GRCm39) |
T324A |
probably benign |
Het |
| Tmem268 |
T |
C |
4: 63,498,530 (GRCm39) |
S224P |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
| Tomm22 |
C |
T |
15: 79,555,311 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
G |
2: 160,556,158 (GRCm39) |
Y539C |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,009,552 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,238 (GRCm39) |
N236D |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,565,679 (GRCm39) |
D411G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,922 (GRCm39) |
M209L |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,355,527 (GRCm39) |
D3429E |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,797 (GRCm39) |
T587S |
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 |
|
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 |
|
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'- GTGCTCCTTCGACCTAAAAGG -3'
Sequencing Primer
(F):5'- ACCCAGGATTCTATGTATGTCAGGC -3'
(R):5'- TAACTCAACTGCCATCGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation