Incidental Mutation 'R0015:Armc3'
| ID |
216009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
038310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0015 (G1)
|
| Quality Score |
71 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 19301132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000049255]
[ENSMUST00000114640]
[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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
97% (71/73) |
| 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 |
|---|
| A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
| Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
G |
A |
12: 84,488,554 (GRCm39) |
L86F |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,723,770 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
| Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
| Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
| Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm39) |
S660G |
probably benign |
Het |
| Dync1i2 |
C |
A |
2: 71,044,828 (GRCm39) |
R13S |
probably damaging |
Het |
| Eps8l1 |
A |
T |
7: 4,480,556 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,223,609 (GRCm39) |
T188A |
possibly damaging |
Het |
| F2 |
T |
C |
2: 91,460,952 (GRCm39) |
E260G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
| Gls2 |
T |
G |
10: 128,045,219 (GRCm39) |
L572R |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 95,184,196 (GRCm39) |
E281D |
probably benign |
Het |
| Gpr35 |
T |
G |
1: 92,910,954 (GRCm39) |
L222W |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
| Id2 |
C |
T |
12: 25,145,802 (GRCm39) |
D70N |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
| Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,230,743 (GRCm39) |
T203A |
probably damaging |
Het |
| Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
| Lgals8 |
A |
G |
13: 12,462,179 (GRCm39) |
L226P |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,217,667 (GRCm39) |
|
probably null |
Het |
| Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,838,175 (GRCm39) |
V48A |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,063 (GRCm39) |
I67T |
possibly damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,154 (GRCm39) |
D93V |
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
| Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,699,057 (GRCm39) |
|
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,580,037 (GRCm39) |
E268G |
probably damaging |
Het |
| Or8b37 |
T |
A |
9: 37,958,963 (GRCm39) |
Y148* |
probably null |
Het |
| Pcf11 |
T |
A |
7: 92,307,525 (GRCm39) |
H881L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
| Pde9a |
G |
A |
17: 31,605,330 (GRCm39) |
|
probably null |
Het |
| Pianp |
G |
T |
6: 124,978,503 (GRCm39) |
G236V |
probably damaging |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,717,660 (GRCm39) |
S1085P |
possibly damaging |
Het |
| Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
| Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,332,432 (GRCm39) |
D2547A |
possibly damaging |
Het |
| Slc20a2 |
C |
A |
8: 23,025,361 (GRCm39) |
A21E |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,679,481 (GRCm39) |
S2503P |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,775,389 (GRCm39) |
F479L |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,612,284 (GRCm39) |
N307K |
probably damaging |
Het |
| Ubxn11 |
C |
G |
4: 133,843,336 (GRCm39) |
|
probably null |
Het |
| Ust |
T |
C |
10: 8,205,829 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,823 (GRCm39) |
N852K |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,349,046 (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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACACACCTCCAGAAATGTGTATCC -3'
(R):5'- CCTAGACAACTTTGCCACATCAGCTT -3'
Sequencing Primer
(F):5'- gaagtcaccgatagccacc -3'
(R):5'- TTTGCCACATCAGCTTACAAAAC -3'
|
| Posted On |
2014-07-17 |
Incidental Mutation