Incidental Mutation 'R7499:Armc3'
| ID |
581351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
045572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19290790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 423
(T423I)
|
| 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: T423I
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: T423I
| 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: T423I
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: T423I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,907,186 (GRCm39) |
D180V |
possibly damaging |
Het |
| Abat |
T |
C |
16: 8,421,618 (GRCm39) |
|
probably null |
Het |
| Ankfn1 |
G |
A |
11: 89,282,576 (GRCm39) |
T357I |
probably benign |
Het |
| Asb6 |
T |
C |
2: 30,714,472 (GRCm39) |
T213A |
possibly damaging |
Het |
| Atp11a |
T |
C |
8: 12,882,575 (GRCm39) |
C488R |
probably benign |
Het |
| Bag6 |
G |
A |
17: 35,363,368 (GRCm39) |
R736H |
probably benign |
Het |
| Bche |
G |
A |
3: 73,609,231 (GRCm39) |
P65L |
probably damaging |
Het |
| Cela3a |
T |
A |
4: 137,132,950 (GRCm39) |
I101F |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,602,028 (GRCm39) |
D359E |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,299,549 (GRCm39) |
V314A |
probably benign |
Het |
| Clpb |
T |
C |
7: 101,371,935 (GRCm39) |
F224L |
possibly damaging |
Het |
| Coro2a |
T |
C |
4: 46,539,188 (GRCm39) |
K527R |
probably benign |
Het |
| Cpa5 |
A |
G |
6: 30,630,856 (GRCm39) |
T373A |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,937,149 (GRCm39) |
|
probably null |
Het |
| Dlx5 |
G |
A |
6: 6,878,340 (GRCm39) |
S230F |
possibly damaging |
Het |
| Dlx5 |
A |
C |
6: 6,878,341 (GRCm39) |
S230A |
probably benign |
Het |
| Dmc1 |
G |
T |
15: 79,486,621 (GRCm39) |
S11* |
probably null |
Het |
| Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,660,135 (GRCm39) |
F846L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,302,596 (GRCm39) |
I1618F |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,279,538 (GRCm39) |
V267A |
possibly damaging |
Het |
| Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,924,007 (GRCm39) |
I317M |
probably damaging |
Het |
| G6pc1 |
C |
A |
11: 101,267,520 (GRCm39) |
Y323* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,058,489 (GRCm39) |
C377R |
possibly damaging |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,134,126 (GRCm39) |
V158A |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,396,227 (GRCm39) |
R340G |
unknown |
Het |
| Ifi206 |
T |
A |
1: 173,309,607 (GRCm39) |
I130F |
|
Het |
| Ifnb1 |
T |
C |
4: 88,440,911 (GRCm39) |
N34S |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,323,702 (GRCm39) |
K283E |
probably damaging |
Het |
| Maf |
T |
C |
8: 116,419,920 (GRCm39) |
D374G |
probably benign |
Het |
| Mettl14 |
A |
G |
3: 123,168,503 (GRCm39) |
I179T |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,684,251 (GRCm39) |
R91H |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,121,171 (GRCm39) |
P651Q |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,007 (GRCm39) |
*315Q |
probably null |
Het |
| Phkg1 |
G |
A |
5: 129,902,109 (GRCm39) |
Q89* |
probably null |
Het |
| Phykpl |
T |
A |
11: 51,482,285 (GRCm39) |
V133E |
probably damaging |
Het |
| Polr3gl |
A |
T |
3: 96,487,137 (GRCm39) |
Y183N |
probably benign |
Het |
| Rab13 |
A |
G |
3: 90,132,840 (GRCm39) |
T187A |
probably benign |
Het |
| Ripor2 |
A |
G |
13: 24,877,755 (GRCm39) |
M252V |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,882,725 (GRCm39) |
N186S |
probably benign |
Het |
| Serpinb5 |
T |
C |
1: 106,800,119 (GRCm39) |
|
probably null |
Het |
| Serpine3 |
G |
A |
14: 62,902,476 (GRCm39) |
W29* |
probably null |
Het |
| Sh2b3 |
T |
C |
5: 121,956,536 (GRCm39) |
R382G |
probably damaging |
Het |
| Slc66a1 |
T |
A |
4: 139,033,823 (GRCm39) |
D32V |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,610,461 (GRCm39) |
L451P |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,208,257 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
A |
14: 51,091,047 (GRCm39) |
A695V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,684,743 (GRCm39) |
V857A |
possibly damaging |
Het |
| Trdn |
A |
T |
10: 33,072,097 (GRCm39) |
M255L |
probably benign |
Het |
| Tsc22d4 |
G |
A |
5: 137,745,985 (GRCm39) |
S203N |
probably benign |
Het |
| Tsfm |
T |
C |
10: 126,858,417 (GRCm39) |
E316G |
possibly damaging |
Het |
| Tvp23b |
T |
C |
11: 62,770,289 (GRCm39) |
|
probably benign |
Het |
| Vgf |
C |
A |
5: 137,061,099 (GRCm39) |
D420E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,618 (GRCm39) |
P854S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,485,816 (GRCm39) |
S164P |
possibly 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 |
|
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'- TGGGTTCATCGCATGACAAAC -3'
(R):5'- GTAGTAGTCTGAGCAGATGGC -3'
Sequencing Primer
(F):5'- GACAAACCTCTCTGTTTCTAAGTGGG -3'
(R):5'- GCAGATGGCATGACTCCGAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation