Incidental Mutation 'IGL02152:Armc3'
ID |
282098 |
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 # |
IGL02152
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 19290948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[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: 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 |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,695,983 (GRCm39) |
T140A |
probably benign |
Het |
4933430I17Rik |
T |
C |
4: 62,460,991 (GRCm39) |
Y289H |
possibly damaging |
Het |
Adamts17 |
T |
A |
7: 66,774,748 (GRCm39) |
S956T |
probably benign |
Het |
Adamts6 |
A |
T |
13: 104,450,168 (GRCm39) |
S290C |
probably null |
Het |
Apaf1 |
A |
T |
10: 90,897,681 (GRCm39) |
H267Q |
probably benign |
Het |
Aplp2 |
G |
A |
9: 31,122,947 (GRCm39) |
P26L |
unknown |
Het |
Arid1b |
C |
T |
17: 5,364,243 (GRCm39) |
S1019F |
probably damaging |
Het |
Ass1 |
T |
C |
2: 31,382,336 (GRCm39) |
I169T |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,288,692 (GRCm39) |
D285G |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,381,209 (GRCm39) |
V2737A |
probably benign |
Het |
Chrm5 |
A |
G |
2: 112,310,913 (GRCm39) |
Y68H |
probably damaging |
Het |
Cops4 |
A |
G |
5: 100,681,456 (GRCm39) |
T164A |
probably benign |
Het |
Cox4i1 |
A |
G |
8: 121,399,604 (GRCm39) |
S72G |
probably benign |
Het |
Cpox |
A |
G |
16: 58,494,787 (GRCm39) |
T275A |
possibly damaging |
Het |
Cyb5a |
T |
C |
18: 84,891,281 (GRCm39) |
I68T |
probably benign |
Het |
Efna5 |
T |
C |
17: 62,958,055 (GRCm39) |
D67G |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,649,900 (GRCm39) |
E842G |
probably damaging |
Het |
Fam210b |
A |
G |
2: 172,193,423 (GRCm39) |
K79E |
probably benign |
Het |
Gm4799 |
T |
C |
10: 82,790,589 (GRCm39) |
|
noncoding transcript |
Het |
Gpr146 |
A |
T |
5: 139,378,467 (GRCm39) |
R90W |
probably damaging |
Het |
H2ac10 |
A |
G |
13: 23,718,451 (GRCm39) |
H124R |
probably benign |
Het |
Hal |
A |
G |
10: 93,339,404 (GRCm39) |
I498V |
possibly damaging |
Het |
Hnrnpm |
C |
T |
17: 33,877,386 (GRCm39) |
G365R |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,627,217 (GRCm39) |
D407G |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,405,536 (GRCm39) |
I1185V |
possibly damaging |
Het |
Kcnj16 |
A |
T |
11: 110,916,036 (GRCm39) |
M233L |
probably benign |
Het |
Klhl5 |
A |
T |
5: 65,306,143 (GRCm39) |
Q370L |
probably damaging |
Het |
L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
Las1l |
A |
G |
X: 94,996,908 (GRCm39) |
V130A |
probably damaging |
Het |
Liat1 |
A |
G |
11: 75,894,051 (GRCm39) |
I143V |
probably benign |
Het |
Lrp2bp |
A |
T |
8: 46,476,081 (GRCm39) |
Y274F |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,356,917 (GRCm39) |
K285M |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,916,216 (GRCm39) |
Y45* |
probably null |
Het |
Muc4 |
T |
A |
16: 32,598,023 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,353,914 (GRCm39) |
C837R |
possibly damaging |
Het |
Nr2f6 |
T |
A |
8: 71,828,810 (GRCm39) |
I155F |
probably damaging |
Het |
Nsg1 |
A |
G |
5: 38,302,145 (GRCm39) |
F50L |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,251 (GRCm39) |
M206L |
probably benign |
Het |
Ostf1 |
C |
A |
19: 18,567,822 (GRCm39) |
G101C |
probably damaging |
Het |
Pam |
C |
T |
1: 97,768,474 (GRCm39) |
R552Q |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,395,924 (GRCm39) |
N2108S |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,487,149 (GRCm39) |
H484L |
probably benign |
Het |
Pwwp3a |
A |
G |
10: 80,075,812 (GRCm39) |
D466G |
probably damaging |
Het |
Rfx5 |
G |
A |
3: 94,864,493 (GRCm39) |
R213Q |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
Sall2 |
A |
G |
14: 52,552,971 (GRCm39) |
S73P |
probably damaging |
Het |
Sec22c |
G |
A |
9: 121,513,845 (GRCm39) |
A264V |
probably benign |
Het |
Sis |
A |
C |
3: 72,796,319 (GRCm39) |
|
probably benign |
Het |
Spam1 |
T |
A |
6: 24,800,802 (GRCm39) |
|
probably benign |
Het |
Spmip2 |
T |
C |
3: 79,252,839 (GRCm39) |
I18T |
possibly damaging |
Het |
St13 |
T |
A |
15: 81,250,583 (GRCm39) |
I318F |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,374,382 (GRCm39) |
I142V |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,635,371 (GRCm39) |
E479K |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,809,903 (GRCm39) |
T1100S |
possibly damaging |
Het |
Ttll6 |
G |
A |
11: 96,026,366 (GRCm39) |
W90* |
probably null |
Het |
Txndc12 |
T |
A |
4: 108,691,989 (GRCm39) |
C9* |
probably null |
Het |
Ubr7 |
C |
T |
12: 102,734,535 (GRCm39) |
Q270* |
probably null |
Het |
Vps33b |
A |
G |
7: 79,934,817 (GRCm39) |
S302G |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,233,997 (GRCm39) |
V508E |
probably damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,703 (GRCm39) |
L111Q |
possibly damaging |
Het |
Zfp410 |
T |
C |
12: 84,379,702 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
T |
7: 12,509,223 (GRCm39) |
|
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 |
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 |
2015-04-16 |