Incidental Mutation 'R2158:Armc3'
| ID |
234965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
040161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R2158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19253444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 195
(P195Q)
|
| 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: P195Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: P195Q
| 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: P195Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: P195Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| 1810055G02Rik |
T |
C |
19: 3,766,608 (GRCm39) |
V65A |
possibly damaging |
Het |
| 4930402F06Rik |
A |
T |
2: 35,275,680 (GRCm39) |
S38T |
possibly damaging |
Het |
| Adam4 |
A |
G |
12: 81,468,537 (GRCm39) |
L28S |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,407,709 (GRCm39) |
F198I |
probably damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,062 (GRCm39) |
V45A |
probably damaging |
Het |
| Amotl1 |
G |
T |
9: 14,486,465 (GRCm39) |
N476K |
probably benign |
Het |
| Apcs |
A |
G |
1: 172,722,100 (GRCm39) |
L82P |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,322,491 (GRCm39) |
L36Q |
unknown |
Het |
| Atad2 |
A |
T |
15: 57,961,962 (GRCm39) |
S870T |
possibly damaging |
Het |
| Bmp10 |
A |
T |
6: 87,411,062 (GRCm39) |
D285V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,128 (GRCm39) |
V972A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,861,015 (GRCm39) |
N921Y |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,318,297 (GRCm39) |
D1019V |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,810,205 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,195 (GRCm39) |
Y360H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,450 (GRCm39) |
|
probably benign |
Het |
| Fn3k |
A |
T |
11: 121,339,712 (GRCm39) |
N158I |
probably damaging |
Het |
| Galnt17 |
C |
T |
5: 130,935,540 (GRCm39) |
R381Q |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,335,227 (GRCm39) |
K180N |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,854 (GRCm39) |
L571P |
probably damaging |
Het |
| Hormad2 |
T |
A |
11: 4,374,808 (GRCm39) |
K69* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,915 (GRCm39) |
D880V |
probably damaging |
Het |
| Ido2 |
T |
A |
8: 25,030,652 (GRCm39) |
D226V |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,961 (GRCm39) |
F159S |
probably damaging |
Het |
| Itgb1bp1 |
T |
C |
12: 21,326,860 (GRCm39) |
T38A |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,062 (GRCm39) |
I749V |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,769,567 (GRCm39) |
M2811L |
probably benign |
Het |
| Lysmd3 |
A |
G |
13: 81,817,737 (GRCm39) |
Y238C |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,030,575 (GRCm39) |
T106M |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,736,155 (GRCm39) |
V358I |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,563 (GRCm38) |
T1479I |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,371,592 (GRCm39) |
V578A |
possibly damaging |
Het |
| Nek10 |
T |
G |
14: 14,885,047 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,768 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or51a24 |
T |
G |
7: 103,734,033 (GRCm39) |
T85P |
probably benign |
Het |
| Or51v14 |
G |
C |
7: 103,261,443 (GRCm39) |
T39R |
possibly damaging |
Het |
| Or52a5b |
G |
T |
7: 103,417,168 (GRCm39) |
C145* |
probably null |
Het |
| Or8d23 |
T |
C |
9: 38,841,875 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,664,937 (GRCm39) |
C333S |
probably benign |
Het |
| Pglyrp2 |
T |
A |
17: 32,637,222 (GRCm39) |
I269F |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,628,655 (GRCm39) |
V536A |
probably benign |
Het |
| Popdc2 |
T |
A |
16: 38,183,188 (GRCm39) |
L57Q |
probably damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,885 (GRCm39) |
R19G |
possibly damaging |
Het |
| Riox1 |
A |
G |
12: 83,997,709 (GRCm39) |
K82E |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,630,647 (GRCm39) |
V388M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,494,444 (GRCm39) |
S814P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,056,824 (GRCm39) |
H1859L |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,343 (GRCm39) |
I1562V |
probably benign |
Het |
| Taar5 |
T |
A |
10: 23,846,986 (GRCm39) |
I128N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,483 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
T |
13: 89,851,648 (GRCm39) |
M1104K |
possibly damaging |
Het |
| Vnn1 |
C |
T |
10: 23,776,653 (GRCm39) |
Q335* |
probably null |
Het |
| Zic1 |
T |
C |
9: 91,246,946 (GRCm39) |
D42G |
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 |
|
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 |
|
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'- GTTCCTTTGACAACGTCTGC -3'
(R):5'- TCTTGGAACGACATGAGTACC -3'
Sequencing Primer
(F):5'- CCATGAAGAGTTTTCTTTTGTCCG -3'
(R):5'- GAACGACATGAGTACCTTGGTCTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation