Incidental Mutation 'R8406:Armc3'
| ID |
652390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
067765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19240365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 41
(I41F)
|
| 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: I41F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: I41F
| 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: I41F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: I41F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,977,343 (GRCm39) |
F139L |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,082 (GRCm39) |
D288E |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,068,415 (GRCm39) |
E327G |
|
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Arl3 |
A |
T |
19: 46,530,823 (GRCm39) |
S157T |
probably benign |
Het |
| Atg9a |
A |
C |
1: 75,167,028 (GRCm39) |
Y8D |
probably damaging |
Het |
| Atp10b |
T |
G |
11: 43,093,984 (GRCm39) |
H509Q |
probably benign |
Het |
| Cabyr |
C |
A |
18: 12,883,804 (GRCm39) |
T97K |
probably benign |
Het |
| Ccdc91 |
T |
C |
6: 147,438,920 (GRCm39) |
F174S |
possibly damaging |
Het |
| Cep350 |
A |
T |
1: 155,798,164 (GRCm39) |
H1207Q |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,439,136 (GRCm39) |
N40K |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,501,611 (GRCm39) |
P381S |
unknown |
Het |
| Cpne5 |
A |
T |
17: 29,428,455 (GRCm39) |
F116Y |
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,171,216 (GRCm39) |
T457A |
probably benign |
Het |
| Cyb5d2 |
T |
C |
11: 72,679,959 (GRCm39) |
E112G |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,223 (GRCm39) |
F212L |
probably benign |
Het |
| Dlx6 |
T |
G |
6: 6,863,779 (GRCm39) |
S134A |
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,638,489 (GRCm39) |
Y380H |
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,728,652 (GRCm39) |
I479N |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,580,027 (GRCm39) |
P726Q |
probably benign |
Het |
| Fis1 |
A |
G |
5: 136,991,865 (GRCm39) |
K20E |
probably benign |
Het |
| Foxk1 |
G |
T |
5: 142,387,528 (GRCm39) |
V84L |
unknown |
Het |
| Gdf5 |
C |
A |
2: 155,784,272 (GRCm39) |
G227W |
probably damaging |
Het |
| Ghrh |
T |
A |
2: 157,175,656 (GRCm39) |
T13S |
probably benign |
Het |
| Gnb2 |
A |
G |
5: 137,526,865 (GRCm39) |
L308P |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,148,863 (GRCm39) |
V574D |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,336,543 (GRCm39) |
I5107F |
possibly damaging |
Het |
| Kl |
A |
T |
5: 150,906,229 (GRCm39) |
Y533F |
probably benign |
Het |
| Man2b1 |
G |
T |
8: 85,822,907 (GRCm39) |
R816L |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,182,823 (GRCm39) |
Y821H |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,092,866 (GRCm39) |
C2076S |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nectin2 |
A |
T |
7: 19,472,275 (GRCm39) |
V38E |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,044 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,921,770 (GRCm39) |
Y536C |
possibly damaging |
Het |
| Pcdh18 |
T |
G |
3: 49,710,998 (GRCm39) |
I106L |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,606,428 (GRCm39) |
K2149E |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,803,681 (GRCm39) |
C588S |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,529,316 (GRCm39) |
M812T |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,359,294 (GRCm39) |
A494V |
unknown |
Het |
| Ros1 |
G |
C |
10: 51,977,941 (GRCm39) |
T1456S |
possibly damaging |
Het |
| Rubcnl |
T |
G |
14: 75,289,425 (GRCm39) |
F644L |
probably damaging |
Het |
| Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
| Sh3glb1 |
T |
G |
3: 144,397,198 (GRCm39) |
E383D |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,407 (GRCm39) |
V508A |
probably damaging |
Het |
| Sirt6 |
A |
T |
10: 81,458,328 (GRCm39) |
H308Q |
probably benign |
Het |
| Slc29a1 |
T |
A |
17: 45,900,706 (GRCm39) |
I119F |
probably damaging |
Het |
| Smtnl1 |
C |
T |
2: 84,648,742 (GRCm39) |
E171K |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,923,923 (GRCm39) |
E799D |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,137,658 (GRCm39) |
W894R |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,065 (GRCm39) |
I1230L |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,019,265 (GRCm39) |
L190P |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,534,724 (GRCm39) |
T69M |
possibly damaging |
Het |
| Ttll7 |
T |
C |
3: 146,645,779 (GRCm39) |
Y546H |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,940,971 (GRCm39) |
G389R |
probably damaging |
Het |
| Vma21-ps |
C |
T |
4: 52,497,034 (GRCm39) |
V71I |
probably damaging |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,414 (GRCm39) |
H24L |
possibly damaging |
Het |
| Vps37c |
T |
A |
19: 10,687,719 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ythdf2 |
A |
G |
4: 131,931,946 (GRCm39) |
W405R |
probably damaging |
Het |
| Zfp775 |
T |
C |
6: 48,597,637 (GRCm39) |
C504R |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,761,652 (GRCm39) |
|
probably null |
Het |
| Zpr1 |
T |
A |
9: 46,185,400 (GRCm39) |
I127N |
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 |
|
R8111:Armc3
|
UTSW |
2 |
19,301,674 (GRCm39) |
missense |
probably benign |
|
|
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'- ATCCTTTTGTAAGACTGCAGCG -3'
(R):5'- GGCCGCCTTCAGTTTAACTC -3'
Sequencing Primer
(F):5'- CTGCAGCGTCTTTAAATTTTAAGCC -3'
(R):5'- CTTTGGGTATGATCCAATGCAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation