Incidental Mutation 'R7003:Armc3'
| ID |
544641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
045108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7003 (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 19274839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 358
(I358T)
|
| 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: I358T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: I358T
| 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: I358T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: I358T
| 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: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Actbl2 |
T |
A |
13: 111,392,490 (GRCm39) |
I275N |
probably damaging |
Het |
| Actr3b |
A |
C |
5: 26,003,461 (GRCm39) |
Y21S |
probably damaging |
Het |
| Adam6b |
C |
T |
12: 113,453,662 (GRCm39) |
Q160* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,670,223 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,504,514 (GRCm39) |
N300D |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,082,416 (GRCm39) |
D170G |
possibly damaging |
Het |
| Amhr2 |
A |
G |
15: 102,354,768 (GRCm39) |
N40S |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,209,109 (GRCm39) |
N767S |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,620,508 (GRCm39) |
S732P |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,610,837 (GRCm39) |
Y327C |
possibly damaging |
Het |
| Bcr |
T |
C |
10: 74,897,393 (GRCm39) |
V179A |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,078,018 (GRCm39) |
L642P |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,486,513 (GRCm39) |
S1302R |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 118,111,727 (GRCm39) |
F153L |
probably benign |
Het |
| Cplane1 |
T |
G |
15: 8,258,246 (GRCm39) |
L2164R |
probably damaging |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,521 (GRCm39) |
D97G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,236,899 (GRCm39) |
T396S |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,788,025 (GRCm39) |
V837I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,810,695 (GRCm39) |
T926I |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,173,961 (GRCm39) |
I816T |
probably damaging |
Het |
| Hpn |
C |
T |
7: 30,810,367 (GRCm39) |
|
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,287,877 (GRCm39) |
S640P |
probably benign |
Het |
| Irs3 |
C |
T |
5: 137,643,539 (GRCm39) |
V82I |
probably benign |
Het |
| Kif16b |
A |
C |
2: 142,600,749 (GRCm39) |
D461E |
possibly damaging |
Het |
| Krba1 |
A |
G |
6: 48,390,014 (GRCm39) |
T592A |
possibly damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,024 (GRCm39) |
S369T |
possibly damaging |
Het |
| Lrrc4b |
C |
T |
7: 44,094,580 (GRCm39) |
P83S |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,319 (GRCm39) |
S39P |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,001 (GRCm39) |
T343A |
possibly damaging |
Het |
| Nt5e |
A |
G |
9: 88,246,805 (GRCm39) |
Y347C |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,703,047 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or2d3b |
A |
T |
7: 106,514,319 (GRCm39) |
T305S |
probably benign |
Het |
| Or2f2 |
C |
T |
6: 42,767,399 (GRCm39) |
T142I |
probably benign |
Het |
| Or8g26 |
A |
T |
9: 39,096,239 (GRCm39) |
Y255F |
probably benign |
Het |
| P2rx5 |
T |
C |
11: 73,058,800 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,768,734 (GRCm39) |
C406R |
possibly damaging |
Het |
| Plod3 |
T |
A |
5: 137,018,498 (GRCm39) |
N245K |
probably damaging |
Het |
| Polr3c |
G |
T |
3: 96,630,954 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Psap |
T |
A |
10: 60,135,276 (GRCm39) |
C317S |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,967,001 (GRCm39) |
I97V |
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,940,882 (GRCm39) |
|
probably null |
Het |
| Rnf19a |
G |
A |
15: 36,254,650 (GRCm39) |
R303* |
probably null |
Het |
| Sdk1 |
G |
A |
5: 142,082,489 (GRCm39) |
V1036I |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,620,588 (GRCm39) |
Y146F |
probably benign |
Het |
| Skint6 |
A |
G |
4: 112,963,109 (GRCm39) |
Y441H |
probably benign |
Het |
| Slc7a12 |
T |
C |
3: 14,570,580 (GRCm39) |
I173T |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,189,302 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tarm1 |
A |
T |
7: 3,545,939 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,693,479 (GRCm39) |
Y1817C |
probably damaging |
Het |
| Ttc9c |
A |
T |
19: 8,795,904 (GRCm39) |
L45Q |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,926,188 (GRCm39) |
T322I |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,439,430 (GRCm39) |
V669E |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,416 (GRCm39) |
M286V |
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,224,172 (GRCm39) |
K816E |
possibly damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,188 (GRCm39) |
M1T |
probably null |
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 |
|
|
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'- TGGTGACCATGCTCAGACTG -3'
(R):5'- ACTACTTTCATAAGGGACCCCAAAG -3'
Sequencing Primer
(F):5'- ACCATGCTCAGACTGTGTAGTGAC -3'
(R):5'- AAGTCAGATTACCTAAGAAAACATGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation