Incidental Mutation 'R8111:Armc3'
ID |
630847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc3
|
Ensembl Gene |
ENSMUSG00000037683 |
Gene Name |
armadillo repeat containing 3 |
Synonyms |
4921513G22Rik |
MMRRC Submission |
067540-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R8111 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19301674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 660
(V660A)
|
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: V664A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048784 Gene: ENSMUSG00000037683 AA Change: V664A
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 benign
Transcript: ENSMUST00000114640
AA Change: V660A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110287 Gene: ENSMUSG00000037683 AA Change: V660A
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: 98.7%
- 20x: 93.2%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
C |
T |
14: 32,382,266 (GRCm39) |
W1233* |
probably null |
Het |
4930590J08Rik |
A |
G |
6: 91,894,691 (GRCm39) |
I247V |
probably benign |
Het |
8030423J24Rik |
T |
A |
13: 71,032,077 (GRCm39) |
C50S |
unknown |
Het |
Adam29 |
T |
G |
8: 56,324,585 (GRCm39) |
H623P |
probably benign |
Het |
Adamts5 |
A |
G |
16: 85,696,203 (GRCm39) |
V318A |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,614,058 (GRCm39) |
D215G |
possibly damaging |
Het |
Ap3b2 |
A |
G |
7: 81,113,530 (GRCm39) |
I893T |
unknown |
Het |
Apob |
G |
A |
12: 8,058,801 (GRCm39) |
A2428T |
probably benign |
Het |
Atf7 |
G |
T |
15: 102,471,769 (GRCm39) |
T42K |
probably damaging |
Het |
Atg9a |
A |
T |
1: 75,164,366 (GRCm39) |
I160N |
probably damaging |
Het |
Atp2b1 |
T |
C |
10: 98,832,786 (GRCm39) |
V429A |
possibly damaging |
Het |
Bpifb3 |
A |
C |
2: 153,764,609 (GRCm39) |
H167P |
probably benign |
Het |
Cacna1f |
G |
T |
X: 7,487,326 (GRCm39) |
E921D |
probably damaging |
Het |
Ccdc57 |
T |
A |
11: 120,769,713 (GRCm39) |
L713F |
probably damaging |
Het |
Chd1l |
C |
T |
3: 97,494,526 (GRCm39) |
E385K |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 15,967,306 (GRCm39) |
V3186I |
probably benign |
Het |
Dclre1c |
T |
A |
2: 3,448,185 (GRCm39) |
D349E |
probably benign |
Het |
Dlg1 |
C |
T |
16: 31,661,620 (GRCm39) |
T657M |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,148,688 (GRCm39) |
I919V |
probably benign |
Het |
Dync2i2 |
C |
A |
2: 29,921,859 (GRCm39) |
A501S |
possibly damaging |
Het |
Eml5 |
A |
G |
12: 98,758,773 (GRCm39) |
|
probably null |
Het |
Epas1 |
C |
A |
17: 87,125,860 (GRCm39) |
S286* |
probably null |
Het |
Fat1 |
G |
A |
8: 45,479,095 (GRCm39) |
V2714I |
possibly damaging |
Het |
Fuca2 |
T |
C |
10: 13,390,545 (GRCm39) |
M447T |
probably benign |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gm11110 |
A |
C |
17: 57,410,427 (GRCm39) |
C24G |
probably null |
Het |
Gm6176 |
T |
A |
7: 21,750,593 (GRCm39) |
I113F |
probably benign |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Gpat2 |
G |
T |
2: 127,275,777 (GRCm39) |
L518F |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Hgsnat |
C |
T |
8: 26,458,440 (GRCm39) |
V195I |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,955,583 (GRCm39) |
S1300T |
probably damaging |
Het |
Hs3st2 |
A |
T |
7: 120,992,362 (GRCm39) |
H137L |
probably damaging |
Het |
Iffo1 |
T |
C |
6: 125,122,781 (GRCm39) |
S188P |
possibly damaging |
Het |
Itih1 |
T |
C |
14: 30,654,225 (GRCm39) |
D684G |
probably damaging |
Het |
Lrba |
C |
A |
3: 86,235,012 (GRCm39) |
N852K |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,709,930 (GRCm39) |
S425P |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,674,003 (GRCm39) |
S562T |
possibly damaging |
Het |
Mex3a |
T |
C |
3: 88,444,064 (GRCm39) |
V380A |
probably benign |
Het |
Mgat4d |
A |
T |
8: 84,094,776 (GRCm39) |
N271I |
probably damaging |
Het |
Mmp24 |
T |
A |
2: 155,649,345 (GRCm39) |
V254E |
possibly damaging |
Het |
Muc16 |
T |
A |
9: 18,503,925 (GRCm39) |
R6455S |
possibly damaging |
Het |
Npffr1 |
T |
A |
10: 61,459,128 (GRCm39) |
V127E |
probably damaging |
Het |
Obox5 |
T |
A |
7: 15,492,541 (GRCm39) |
N165K |
probably damaging |
Het |
Or10g3b |
G |
A |
14: 52,587,344 (GRCm39) |
T53M |
possibly damaging |
Het |
Otulin |
A |
C |
15: 27,606,381 (GRCm39) |
V344G |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,180,229 (GRCm39) |
D1030G |
probably damaging |
Het |
Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
Ppp2r3c |
C |
A |
12: 55,344,634 (GRCm39) |
M111I |
probably benign |
Het |
Prss37 |
T |
C |
6: 40,494,747 (GRCm39) |
T13A |
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sgo2b |
T |
A |
8: 64,396,138 (GRCm39) |
K39N |
probably damaging |
Het |
Sike1 |
T |
C |
3: 102,909,123 (GRCm39) |
*208Q |
probably null |
Het |
Spire1 |
A |
G |
18: 67,652,391 (GRCm39) |
S229P |
probably damaging |
Het |
Tmem132b |
A |
G |
5: 125,699,857 (GRCm39) |
I132V |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,190,792 (GRCm39) |
V213A |
probably damaging |
Het |
Washc1 |
C |
G |
17: 66,423,033 (GRCm39) |
Q116E |
probably benign |
Het |
Zfp553 |
T |
A |
7: 126,836,093 (GRCm39) |
C549* |
probably null |
Het |
Zfp9 |
G |
A |
6: 118,441,561 (GRCm39) |
P367L |
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 |
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 |
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 |
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'- TAACTGCAGTGGTGATTGAATCC -3'
(R):5'- AGGGGTGCCAACTAACTAGG -3'
Sequencing Primer
(F):5'- TTGAATCCAATCATGCTGGAAGAG -3'
(R):5'- TTGCCCACTATGGAGACCC -3'
|
Posted On |
2020-06-30 |