Incidental Mutation 'R6245:Armc3'
| ID |
505501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
044403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
19199302-19310241 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19248705 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 219
(T219M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000114640]
|
| AlphaFold |
A2AU72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049255
AA Change: T219M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: T219M
| 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: T219M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: T219M
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,178,418 (GRCm38) |
Y218H |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,135,423 (GRCm38) |
I937T |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,688,556 (GRCm38) |
N720K |
probably benign |
Het |
| Akr1c21 |
T |
G |
13: 4,575,232 (GRCm38) |
V54G |
possibly damaging |
Het |
| Alpi |
G |
T |
1: 87,100,834 (GRCm38) |
D111E |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,396,836 (GRCm38) |
E780V |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,935,568 (GRCm38) |
S244P |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,476,939 (GRCm38) |
W737R |
probably damaging |
Het |
| Chdh |
T |
A |
14: 30,035,305 (GRCm38) |
V395D |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,973,816 (GRCm38) |
D366Y |
probably damaging |
Het |
| Crnkl1 |
T |
A |
2: 145,928,131 (GRCm38) |
N264I |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,748 (GRCm38) |
L847P |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,571,348 (GRCm38) |
T382P |
possibly damaging |
Het |
| Dcaf8 |
A |
T |
1: 172,165,867 (GRCm38) |
M1L |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,844,982 (GRCm38) |
F52I |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,382,866 (GRCm38) |
S852N |
possibly damaging |
Het |
| Fchsd1 |
A |
T |
18: 37,962,775 (GRCm38) |
L552Q |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,932,331 (GRCm38) |
R143C |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,655,824 (GRCm38) |
M421V |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,920,747 (GRCm38) |
H36P |
probably benign |
Het |
| Gm11639 |
A |
T |
11: 104,785,008 (GRCm38) |
Y1542F |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,120,044 (GRCm38) |
|
probably null |
Het |
| Hspa4 |
C |
T |
11: 53,262,939 (GRCm38) |
E702K |
probably benign |
Het |
| Intu |
C |
A |
3: 40,675,326 (GRCm38) |
T362K |
probably damaging |
Het |
| Jaml |
C |
T |
9: 45,097,919 (GRCm38) |
T248I |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,396,867 (GRCm38) |
S176C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,326,137 (GRCm38) |
L140P |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,702,143 (GRCm38) |
K957R |
probably damaging |
Het |
| Klc4 |
T |
A |
17: 46,636,679 (GRCm38) |
I366F |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,488,199 (GRCm38) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,178,104 (GRCm38) |
D151G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 64,710,826 (GRCm38) |
A689E |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,389,244 (GRCm38) |
G81C |
probably damaging |
Het |
| Msmp |
T |
C |
4: 43,583,909 (GRCm38) |
Y48C |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,648,821 (GRCm38) |
N567S |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,354,221 (GRCm38) |
Y748H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,379,875 (GRCm38) |
A192T |
possibly damaging |
Het |
| Olfr1138 |
G |
C |
2: 87,737,896 (GRCm38) |
Q143E |
possibly damaging |
Het |
| Olfr1370 |
T |
A |
13: 21,072,690 (GRCm38) |
T204S |
possibly damaging |
Het |
| Olfr1384 |
T |
A |
11: 49,514,165 (GRCm38) |
F176I |
possibly damaging |
Het |
| Pcdhb8 |
T |
G |
18: 37,357,169 (GRCm38) |
D633E |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,403,154 (GRCm38) |
V734M |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,259,321 (GRCm38) |
Y21H |
unknown |
Het |
| Ptk2b |
G |
T |
14: 66,163,066 (GRCm38) |
P767T |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,051,990 (GRCm38) |
Y1424H |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,386,184 (GRCm38) |
Q118L |
probably benign |
Het |
| Selenop |
A |
G |
15: 3,274,734 (GRCm38) |
S21G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,352,253 (GRCm38) |
S1132N |
unknown |
Het |
| Slf1 |
A |
G |
13: 77,084,383 (GRCm38) |
L534P |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,085,147 (GRCm38) |
H596L |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,957,108 (GRCm38) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,185,993 (GRCm38) |
I59N |
probably damaging |
Het |
| Tctex1d1 |
A |
G |
4: 102,988,667 (GRCm38) |
N32S |
probably benign |
Het |
| Tjp3 |
G |
A |
10: 81,277,276 (GRCm38) |
T580I |
probably benign |
Het |
| Tmem154 |
C |
T |
3: 84,684,296 (GRCm38) |
T51M |
possibly damaging |
Het |
| Tmem8b |
G |
A |
4: 43,690,246 (GRCm38) |
V894I |
probably benign |
Het |
| Trbv20 |
A |
T |
6: 41,188,906 (GRCm38) |
L88F |
possibly damaging |
Het |
| Tssk2 |
A |
C |
16: 17,898,948 (GRCm38) |
I72L |
possibly damaging |
Het |
| Tub |
T |
A |
7: 109,027,058 (GRCm38) |
I267N |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,041,567 (GRCm38) |
F434I |
possibly damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,192,734 (GRCm38) |
N471S |
probably damaging |
Het |
| Vmn2r94 |
C |
G |
17: 18,258,123 (GRCm38) |
G121R |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,148,223 (GRCm38) |
S245P |
probably damaging |
Het |
| Zbtb42 |
A |
G |
12: 112,679,535 (GRCm38) |
Y48C |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,304,433 (GRCm38) |
V657A |
possibly damaging |
Het |
| Zfp768 |
A |
T |
7: 127,344,091 (GRCm38) |
C288* |
probably null |
Het |
| Zfp988 |
T |
A |
4: 147,332,013 (GRCm38) |
C301* |
probably null |
Het |
|
| Other mutations in Armc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00535:Armc3
|
APN |
2 |
19,303,858 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL01123:Armc3
|
APN |
2 |
19,201,805 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01142:Armc3
|
APN |
2 |
19,297,898 (GRCm38) |
splice site |
probably benign |
|
|
IGL01556:Armc3
|
APN |
2 |
19,269,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02145:Armc3
|
APN |
2 |
19,286,137 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02145:Armc3
|
APN |
2 |
19,296,860 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02152:Armc3
|
APN |
2 |
19,286,137 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02154:Armc3
|
APN |
2 |
19,286,137 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02243:Armc3
|
APN |
2 |
19,286,137 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02244:Armc3
|
APN |
2 |
19,286,137 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02516:Armc3
|
APN |
2 |
19,300,506 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02691:Armc3
|
APN |
2 |
19,235,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03151:Armc3
|
APN |
2 |
19,238,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03190:Armc3
|
APN |
2 |
19,288,950 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03288:Armc3
|
APN |
2 |
19,235,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03338:Armc3
|
APN |
2 |
19,248,701 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0015:Armc3
|
UTSW |
2 |
19,296,321 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0015:Armc3
|
UTSW |
2 |
19,296,321 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0256:Armc3
|
UTSW |
2 |
19,269,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0621:Armc3
|
UTSW |
2 |
19,295,393 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1326:Armc3
|
UTSW |
2 |
19,310,124 (GRCm38) |
makesense |
probably null |
|
|
R1470:Armc3
|
UTSW |
2 |
19,238,736 (GRCm38) |
missense |
probably benign |
|
|
R1470:Armc3
|
UTSW |
2 |
19,238,736 (GRCm38) |
missense |
probably benign |
|
|
R1489:Armc3
|
UTSW |
2 |
19,310,047 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1990:Armc3
|
UTSW |
2 |
19,293,142 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1991:Armc3
|
UTSW |
2 |
19,293,142 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1992:Armc3
|
UTSW |
2 |
19,293,142 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2002:Armc3
|
UTSW |
2 |
19,288,936 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2095:Armc3
|
UTSW |
2 |
19,288,929 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2127:Armc3
|
UTSW |
2 |
19,201,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Armc3
|
UTSW |
2 |
19,248,633 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2697:Armc3
|
UTSW |
2 |
19,303,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3809:Armc3
|
UTSW |
2 |
19,300,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3897:Armc3
|
UTSW |
2 |
19,269,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4107:Armc3
|
UTSW |
2 |
19,288,909 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4326:Armc3
|
UTSW |
2 |
19,300,473 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4464:Armc3
|
UTSW |
2 |
19,248,659 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4702:Armc3
|
UTSW |
2 |
19,309,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4923:Armc3
|
UTSW |
2 |
19,292,980 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5370:Armc3
|
UTSW |
2 |
19,286,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5518:Armc3
|
UTSW |
2 |
19,297,928 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5718:Armc3
|
UTSW |
2 |
19,303,799 (GRCm38) |
nonsense |
probably null |
|
|
R5739:Armc3
|
UTSW |
2 |
19,253,917 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5913:Armc3
|
UTSW |
2 |
19,310,047 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6211:Armc3
|
UTSW |
2 |
19,296,803 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6841:Armc3
|
UTSW |
2 |
19,201,819 (GRCm38) |
splice site |
probably null |
|
|
R7003:Armc3
|
UTSW |
2 |
19,270,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7190:Armc3
|
UTSW |
2 |
19,293,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7499:Armc3
|
UTSW |
2 |
19,285,979 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7738:Armc3
|
UTSW |
2 |
19,288,950 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7844:Armc3
|
UTSW |
2 |
19,254,018 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7919:Armc3
|
UTSW |
2 |
19,286,095 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8060:Armc3
|
UTSW |
2 |
19,288,909 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8111:Armc3
|
UTSW |
2 |
19,296,863 (GRCm38) |
missense |
probably benign |
|
|
R8406:Armc3
|
UTSW |
2 |
19,235,554 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8485:Armc3
|
UTSW |
2 |
19,293,134 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8773:Armc3
|
UTSW |
2 |
19,288,856 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8940:Armc3
|
UTSW |
2 |
19,235,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9441:Armc3
|
UTSW |
2 |
19,248,615 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1177:Armc3
|
UTSW |
2 |
19,285,991 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAATAGATGCTCCCCATTCTGG -3'
(R):5'- GTTCTAGATGGTCTCTGTAACTAGGTC -3'
Sequencing Primer
(F):5'- CCCCATTCTGGAGATTGTGTTTTG -3'
(R):5'- AAATAGCCTAATAGACTTTACACAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation