Incidental Mutation 'R6841:Armc3'
| ID |
538001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
044947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6841 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 19206630 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
99% (71/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
G |
A |
11: 6,150,439 (GRCm39) |
W137* |
probably null |
Het |
| Acads |
G |
A |
5: 115,250,417 (GRCm39) |
T169I |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,570,787 (GRCm39) |
N414Y |
probably damaging |
Het |
| Ankrd35 |
T |
A |
3: 96,577,742 (GRCm39) |
S6T |
probably damaging |
Het |
| Atp9a |
C |
A |
2: 168,496,140 (GRCm39) |
V555F |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,075,630 (GRCm39) |
Y3610C |
probably damaging |
Het |
| Cars2 |
C |
T |
8: 11,566,198 (GRCm39) |
V443I |
probably benign |
Het |
| Cblc |
A |
G |
7: 19,526,821 (GRCm39) |
L137P |
probably damaging |
Het |
| Ccdc198 |
T |
C |
14: 49,481,270 (GRCm39) |
|
probably null |
Het |
| Cdk5r1 |
T |
A |
11: 80,369,021 (GRCm39) |
C229* |
probably null |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,710,877 (GRCm39) |
Y2728C |
unknown |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| Cnot11 |
C |
T |
1: 39,579,148 (GRCm39) |
Q12* |
probably null |
Het |
| Commd6 |
A |
T |
14: 101,874,534 (GRCm39) |
D19E |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,112,361 (GRCm39) |
G71D |
possibly damaging |
Het |
| Cstf3 |
A |
G |
2: 104,486,076 (GRCm39) |
K439E |
probably benign |
Het |
| Cyp11b2 |
G |
T |
15: 74,727,340 (GRCm39) |
H114N |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,687 (GRCm39) |
D106G |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,655,618 (GRCm39) |
V1117E |
probably damaging |
Het |
| Duoxa1 |
G |
T |
2: 122,134,462 (GRCm39) |
L219I |
probably damaging |
Het |
| Dynap |
A |
T |
18: 70,374,253 (GRCm39) |
I91N |
probably damaging |
Het |
| Elfn1 |
G |
T |
5: 139,958,900 (GRCm39) |
G635W |
probably damaging |
Het |
| Fan1 |
A |
T |
7: 64,014,377 (GRCm39) |
I618N |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,876,410 (GRCm39) |
D2381G |
probably damaging |
Het |
| Fxyd6 |
T |
A |
9: 45,302,851 (GRCm39) |
|
probably null |
Het |
| Gpr137b |
A |
T |
13: 13,538,094 (GRCm39) |
W286R |
probably damaging |
Het |
| Gpsm3 |
A |
T |
17: 34,809,536 (GRCm39) |
|
probably null |
Het |
| Has1 |
C |
T |
17: 18,064,122 (GRCm39) |
V506I |
probably benign |
Het |
| Hoxd10 |
T |
A |
2: 74,522,616 (GRCm39) |
V98D |
probably benign |
Het |
| Htr2b |
T |
A |
1: 86,027,615 (GRCm39) |
D297V |
probably benign |
Het |
| Hydin |
G |
C |
8: 111,265,007 (GRCm39) |
R2730P |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,833,830 (GRCm39) |
N109D |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,922,263 (GRCm39) |
F1284I |
probably damaging |
Het |
| Ildr2 |
C |
G |
1: 166,098,144 (GRCm39) |
D167E |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,314,046 (GRCm39) |
D949G |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,153 (GRCm39) |
N27S |
probably damaging |
Het |
| Klra4 |
C |
A |
6: 130,042,162 (GRCm39) |
R35L |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,359,682 (GRCm39) |
C512S |
probably benign |
Het |
| Mertk |
A |
G |
2: 128,601,150 (GRCm39) |
|
probably null |
Het |
| Mgat2 |
T |
A |
12: 69,232,407 (GRCm39) |
I327N |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,499,496 (GRCm39) |
I59T |
probably damaging |
Het |
| Mrpl2 |
A |
T |
17: 46,958,382 (GRCm39) |
M55L |
probably benign |
Het |
| Nxpe3 |
T |
C |
16: 55,664,685 (GRCm39) |
M512V |
possibly damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,286,052 (GRCm39) |
L769P |
probably damaging |
Het |
| Pcmtd2 |
T |
G |
2: 181,486,231 (GRCm39) |
V117G |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,415,578 (GRCm39) |
|
probably null |
Het |
| Repin1 |
A |
T |
6: 48,574,859 (GRCm39) |
Q593L |
possibly damaging |
Het |
| Rnf213 |
C |
T |
11: 119,340,692 (GRCm39) |
T3517I |
probably benign |
Het |
| Rxfp2 |
A |
T |
5: 149,942,210 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,785,968 (GRCm39) |
L138P |
probably damaging |
Het |
| Slc35a3 |
T |
A |
3: 116,506,417 (GRCm39) |
Q5L |
probably null |
Het |
| Stab2 |
T |
A |
10: 86,778,054 (GRCm39) |
N758I |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,908,658 (GRCm39) |
I557N |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,428,455 (GRCm39) |
I497V |
possibly damaging |
Het |
| Ticam2 |
A |
C |
18: 46,693,998 (GRCm39) |
S30A |
probably benign |
Het |
| Timp3 |
T |
C |
10: 86,181,638 (GRCm39) |
S170P |
possibly damaging |
Het |
| Top1mt |
C |
T |
15: 75,547,973 (GRCm39) |
E38K |
probably benign |
Het |
| Tpp1 |
G |
A |
7: 105,398,171 (GRCm39) |
L331F |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,654,941 (GRCm39) |
D1332E |
probably benign |
Het |
| Ttc23 |
A |
G |
7: 67,319,476 (GRCm39) |
E112G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,715,296 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,726,934 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,850,969 (GRCm39) |
C1796S |
probably damaging |
Het |
| Ugt2b34 |
C |
T |
5: 87,040,675 (GRCm39) |
V416I |
probably benign |
Het |
| Uqcrb |
A |
G |
13: 67,048,827 (GRCm39) |
|
probably benign |
Het |
| Vps26b |
A |
G |
9: 26,921,760 (GRCm39) |
L255P |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,223,512 (GRCm39) |
V154A |
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 |
|
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'- ACATCAACTGCATGCTTTAGTTGG -3'
(R):5'- TGGCTAATTCATATCAACCAGCG -3'
Sequencing Primer
(F):5'- CTGCATGCTTTAGTTGGTAAAATG -3'
(R):5'- GCTAATTCATATCAACCAGCGAATAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation