Incidental Mutation 'IGL01123:Armc3'
| ID |
50573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19206616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 13
(P13L)
|
| 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: P13L
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: P13L
| 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 |
possibly damaging
Transcript: ENSMUST00000114640
AA Change: P13L
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: P13L
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
T |
10: 28,849,934 (GRCm39) |
D167E |
probably damaging |
Het |
| Aadat |
A |
T |
8: 60,979,648 (GRCm39) |
E170V |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,461,276 (GRCm39) |
E300G |
probably benign |
Het |
| Agbl3 |
C |
T |
6: 34,823,911 (GRCm39) |
Q859* |
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,665,118 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,803 (GRCm39) |
Q730K |
probably damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,490 (GRCm39) |
T233S |
probably benign |
Het |
| Bnc1 |
G |
A |
7: 81,623,455 (GRCm39) |
Q591* |
probably null |
Het |
| Bsn |
A |
T |
9: 107,993,185 (GRCm39) |
F856I |
probably damaging |
Het |
| CK137956 |
T |
A |
4: 127,829,643 (GRCm39) |
T558S |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,509 (GRCm39) |
V180I |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 17,584,944 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Dhx37 |
A |
G |
5: 125,496,152 (GRCm39) |
S769P |
possibly damaging |
Het |
| Diras1 |
T |
A |
10: 80,858,249 (GRCm39) |
M1L |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,438 (GRCm39) |
W81R |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,011,418 (GRCm39) |
I2173L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Gabrq |
G |
A |
X: 71,880,439 (GRCm39) |
D311N |
probably benign |
Het |
| Isl2 |
G |
T |
9: 55,452,746 (GRCm39) |
G335C |
probably damaging |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,052 (GRCm39) |
V628A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,735,029 (GRCm39) |
M5378V |
unknown |
Het |
| Lrrc23 |
G |
T |
6: 124,755,782 (GRCm39) |
D75E |
probably benign |
Het |
| Mab21l3 |
G |
A |
3: 101,742,446 (GRCm39) |
T38M |
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,677,322 (GRCm39) |
I177T |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,537,494 (GRCm39) |
S60P |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,946 (GRCm39) |
E278G |
probably benign |
Het |
| Nsun6 |
T |
C |
2: 15,053,789 (GRCm39) |
I7V |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,076 (GRCm39) |
S492T |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,757,627 (GRCm39) |
Q188* |
probably null |
Het |
| Pom121 |
A |
T |
5: 135,420,560 (GRCm39) |
V287D |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,522,079 (GRCm39) |
F624Y |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,024,222 (GRCm39) |
T178A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,441,424 (GRCm39) |
N473S |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,996,905 (GRCm39) |
Y1256N |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,832,154 (GRCm39) |
N192S |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,660,265 (GRCm39) |
S6P |
possibly damaging |
Het |
| Sgca |
T |
A |
11: 94,863,113 (GRCm39) |
Q80L |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,661,879 (GRCm39) |
L1235P |
possibly damaging |
Het |
| Slc23a2 |
A |
C |
2: 131,898,736 (GRCm39) |
N600K |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,221 (GRCm39) |
T350A |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,294,921 (GRCm39) |
Y1227* |
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,479 (GRCm39) |
Y124C |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,913,845 (GRCm39) |
T416I |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,571 (GRCm39) |
W116R |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,765,851 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,629,030 (GRCm39) |
V1469A |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation