Incidental Mutation 'R5518:Armc3'
| ID |
431379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc3
|
| Ensembl Gene |
ENSMUSG00000037683 |
| Gene Name |
armadillo repeat containing 3 |
| Synonyms |
4921513G22Rik |
| MMRRC Submission |
043077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R5518 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19204113-19315052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 19302739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 684
(L684V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049255]
[ENSMUST00000114640]
|
| AlphaFold |
A2AU72 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000114640
AA Change: L684V
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: L684V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 94.2%
- 20x: 86.3%
|
| Validation Efficiency |
100% (75/75) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
T |
7: 45,769,873 (GRCm39) |
E881K |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Abl1 |
T |
A |
2: 31,680,754 (GRCm39) |
C349S |
probably damaging |
Het |
| Acot11 |
C |
A |
4: 106,607,207 (GRCm39) |
V459L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,753,348 (GRCm39) |
V311D |
probably damaging |
Het |
| Ankrd11 |
C |
G |
8: 123,617,733 (GRCm39) |
E2040Q |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,525,869 (GRCm39) |
I359V |
probably benign |
Het |
| Asb10 |
G |
A |
5: 24,744,643 (GRCm39) |
P184S |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,042,463 (GRCm39) |
S8P |
possibly damaging |
Het |
| Blk |
G |
T |
14: 63,615,956 (GRCm39) |
S324R |
possibly damaging |
Het |
| C4b |
G |
C |
17: 34,953,416 (GRCm39) |
N1022K |
probably benign |
Het |
| Card6 |
G |
T |
15: 5,134,696 (GRCm39) |
T169K |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,236,844 (GRCm39) |
T268A |
possibly damaging |
Het |
| Cbx3 |
C |
T |
6: 51,458,726 (GRCm39) |
P64S |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,544,567 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,212,534 (GRCm39) |
E899K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,949,387 (GRCm39) |
S749R |
possibly damaging |
Het |
| Cpne3 |
T |
G |
4: 19,553,779 (GRCm39) |
N84T |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,617,025 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,242,818 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,596 (GRCm39) |
C221F |
probably damaging |
Het |
| Exoc3l |
T |
C |
8: 106,019,795 (GRCm39) |
N353D |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| G3bp2 |
T |
A |
5: 92,216,347 (GRCm39) |
H63L |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 130,929,428 (GRCm39) |
Y460H |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,865,004 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,154 (GRCm39) |
L23P |
probably damaging |
Het |
| Ins1 |
T |
C |
19: 52,253,177 (GRCm39) |
L39P |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,306,566 (GRCm39) |
V210G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,683,488 (GRCm39) |
T210S |
probably benign |
Het |
| Krtap24-1 |
A |
T |
16: 88,408,596 (GRCm39) |
F177I |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,079 (GRCm39) |
I1963K |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,431,875 (GRCm39) |
|
probably null |
Het |
| Mknk2 |
A |
T |
10: 80,504,475 (GRCm39) |
C229S |
possibly damaging |
Het |
| Mta2 |
C |
A |
19: 8,925,456 (GRCm39) |
Q362K |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,232,105 (GRCm39) |
Y225H |
probably benign |
Het |
| Or4d11 |
T |
C |
19: 12,013,429 (GRCm39) |
R226G |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,415 (GRCm39) |
D693G |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,368,294 (GRCm39) |
D100N |
possibly damaging |
Het |
| Pld3 |
T |
C |
7: 27,231,796 (GRCm39) |
D465G |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,496,172 (GRCm39) |
Y788H |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 162,120,143 (GRCm39) |
D108V |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,823,354 (GRCm39) |
M475K |
probably benign |
Het |
| Rbak |
A |
G |
5: 143,159,064 (GRCm39) |
L663P |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,719,590 (GRCm39) |
N947D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,702,795 (GRCm39) |
S2898G |
probably benign |
Het |
| Serpina1e |
A |
C |
12: 103,917,087 (GRCm39) |
L194R |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,944,724 (GRCm39) |
S158P |
probably damaging |
Het |
| Smtnl2 |
A |
T |
11: 72,292,342 (GRCm39) |
V269E |
possibly damaging |
Het |
| Snx14 |
G |
T |
9: 88,265,855 (GRCm39) |
P760Q |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,948,508 (GRCm39) |
E759G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,473,588 (GRCm39) |
T4906M |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,991,944 (GRCm39) |
F1970I |
possibly damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,768 (GRCm39) |
H362Q |
probably benign |
Het |
| Tmem121 |
T |
C |
12: 113,152,547 (GRCm39) |
V255A |
possibly damaging |
Het |
| Tmem201 |
T |
C |
4: 149,802,534 (GRCm39) |
T614A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,935,916 (GRCm39) |
D340G |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,373,794 (GRCm39) |
T1046S |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,952,238 (GRCm39) |
D8G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,937 (GRCm39) |
N850S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,231,417 (GRCm39) |
H451R |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,818 (GRCm39) |
C595R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,583 (GRCm39) |
S182P |
probably benign |
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 |
|
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 |
|
|
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'- AGGTCTAGCTCTTATGGTTGGAAC -3'
(R):5'- TCATTGCCTAATGGACAGGAAC -3'
Sequencing Primer
(F):5'- TTTAATCCGCAGTAGGACAGCCTG -3'
(R):5'- GCCTAATGGACAGGAACTTAATTTG -3'
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| Posted On |
2016-10-05 |
Incidental Mutation