Incidental Mutation 'R3784:Armc2'
ID |
272174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc2
|
Ensembl Gene |
ENSMUSG00000071324 |
Gene Name |
armadillo repeat containing 2 |
Synonyms |
2610018I05Rik |
MMRRC Submission |
040876-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3784 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41790986-41894438 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41798190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 779
(I779V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095729]
[ENSMUST00000160262]
[ENSMUST00000161927]
|
AlphaFold |
Q3URY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095729
AA Change: I779V
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000093397 Gene: ENSMUSG00000071324 AA Change: I779V
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
low complexity region
|
222 |
237 |
N/A |
INTRINSIC |
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
ARM
|
355 |
393 |
7.53e1 |
SMART |
ARM
|
400 |
453 |
3.69e1 |
SMART |
ARM
|
454 |
496 |
8.23e1 |
SMART |
Blast:ARM
|
497 |
540 |
1e-16 |
BLAST |
Blast:ARM
|
542 |
603 |
1e-6 |
BLAST |
Blast:ARM
|
603 |
649 |
7e-20 |
BLAST |
Blast:ARM
|
653 |
692 |
3e-8 |
BLAST |
ARM
|
693 |
733 |
4.41e1 |
SMART |
ARM
|
734 |
777 |
2.7e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105503
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160262
AA Change: I779V
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000125412 Gene: ENSMUSG00000071324 AA Change: I779V
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
low complexity region
|
222 |
237 |
N/A |
INTRINSIC |
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
ARM
|
355 |
393 |
7.53e1 |
SMART |
ARM
|
400 |
453 |
3.69e1 |
SMART |
ARM
|
454 |
496 |
8.23e1 |
SMART |
Blast:ARM
|
497 |
540 |
1e-16 |
BLAST |
Blast:ARM
|
542 |
603 |
1e-6 |
BLAST |
Blast:ARM
|
603 |
649 |
7e-20 |
BLAST |
Blast:ARM
|
653 |
692 |
3e-8 |
BLAST |
ARM
|
693 |
733 |
4.41e1 |
SMART |
ARM
|
734 |
777 |
2.7e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160367
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161927
|
SMART Domains |
Protein: ENSMUSP00000124049 Gene: ENSMUSG00000071324
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0590 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
Ank2 |
A |
G |
3: 126,746,842 (GRCm39) |
L581P |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,011,415 (GRCm39) |
Y965N |
probably damaging |
Het |
C3 |
A |
G |
17: 57,533,067 (GRCm39) |
V146A |
probably damaging |
Het |
Cfap206 |
A |
T |
4: 34,716,445 (GRCm39) |
I340N |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
Drosha |
A |
G |
15: 12,890,615 (GRCm39) |
D954G |
possibly damaging |
Het |
Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,147,012 (GRCm39) |
A3995T |
probably benign |
Het |
Foxg1 |
A |
G |
12: 49,432,382 (GRCm39) |
T372A |
probably benign |
Het |
Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
Hook1 |
T |
C |
4: 95,877,888 (GRCm39) |
F55L |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,019,328 (GRCm39) |
K986R |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
Klra8 |
T |
A |
6: 130,102,018 (GRCm39) |
D139V |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,998,298 (GRCm39) |
Y20C |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,249,677 (GRCm39) |
T1209I |
probably damaging |
Het |
Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,509,551 (GRCm39) |
D633G |
probably damaging |
Het |
Plekhg3 |
T |
C |
12: 76,607,294 (GRCm39) |
|
probably null |
Het |
Plxna2 |
T |
A |
1: 194,326,925 (GRCm39) |
D286E |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Prmt7 |
C |
A |
8: 106,968,768 (GRCm39) |
Q361K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,238 (GRCm39) |
|
probably benign |
Het |
Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rad51b |
C |
T |
12: 79,347,419 (GRCm39) |
Q28* |
probably null |
Het |
Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
Spats2l |
A |
G |
1: 57,924,938 (GRCm39) |
E112G |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
Taf15 |
G |
A |
11: 83,397,248 (GRCm39) |
D313N |
unknown |
Het |
Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
Tubb6 |
A |
G |
18: 67,526,063 (GRCm39) |
T72A |
possibly damaging |
Het |
Txndc16 |
A |
T |
14: 45,403,343 (GRCm39) |
V32E |
probably damaging |
Het |
Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly damaging |
Het |
|
Other mutations in Armc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4131001:Armc2
|
UTSW |
10 |
41,823,883 (GRCm39) |
splice site |
probably benign |
|
R0144:Armc2
|
UTSW |
10 |
41,823,883 (GRCm39) |
splice site |
probably benign |
|
R0427:Armc2
|
UTSW |
10 |
41,876,406 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0540:Armc2
|
UTSW |
10 |
41,798,691 (GRCm39) |
missense |
probably benign |
0.11 |
R0561:Armc2
|
UTSW |
10 |
41,869,188 (GRCm39) |
missense |
probably benign |
0.02 |
R0607:Armc2
|
UTSW |
10 |
41,798,691 (GRCm39) |
missense |
probably benign |
0.11 |
R1099:Armc2
|
UTSW |
10 |
41,793,183 (GRCm39) |
missense |
probably benign |
0.39 |
R1130:Armc2
|
UTSW |
10 |
41,887,830 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2116:Armc2
|
UTSW |
10 |
41,839,663 (GRCm39) |
missense |
probably damaging |
0.98 |
R2870:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2870:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2871:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2871:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2872:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2872:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2873:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R3083:Armc2
|
UTSW |
10 |
41,842,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Armc2
|
UTSW |
10 |
41,798,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R3880:Armc2
|
UTSW |
10 |
41,839,721 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4024:Armc2
|
UTSW |
10 |
41,869,054 (GRCm39) |
missense |
probably benign |
|
R4155:Armc2
|
UTSW |
10 |
41,887,863 (GRCm39) |
missense |
probably damaging |
0.96 |
R4370:Armc2
|
UTSW |
10 |
41,793,196 (GRCm39) |
missense |
probably benign |
0.13 |
R4378:Armc2
|
UTSW |
10 |
41,869,078 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4896:Armc2
|
UTSW |
10 |
41,799,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Armc2
|
UTSW |
10 |
41,798,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R5159:Armc2
|
UTSW |
10 |
41,884,711 (GRCm39) |
missense |
probably damaging |
0.96 |
R5517:Armc2
|
UTSW |
10 |
41,839,846 (GRCm39) |
missense |
probably benign |
0.29 |
R5640:Armc2
|
UTSW |
10 |
41,887,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5767:Armc2
|
UTSW |
10 |
41,887,923 (GRCm39) |
missense |
probably benign |
0.02 |
R5965:Armc2
|
UTSW |
10 |
41,798,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6897:Armc2
|
UTSW |
10 |
41,869,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7233:Armc2
|
UTSW |
10 |
41,799,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R7829:Armc2
|
UTSW |
10 |
41,802,856 (GRCm39) |
missense |
probably benign |
|
R7832:Armc2
|
UTSW |
10 |
41,842,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R7999:Armc2
|
UTSW |
10 |
41,887,954 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8029:Armc2
|
UTSW |
10 |
41,802,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Armc2
|
UTSW |
10 |
41,842,738 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8033:Armc2
|
UTSW |
10 |
41,884,680 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8191:Armc2
|
UTSW |
10 |
41,839,747 (GRCm39) |
missense |
probably benign |
0.29 |
R8304:Armc2
|
UTSW |
10 |
41,823,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Armc2
|
UTSW |
10 |
41,799,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8370:Armc2
|
UTSW |
10 |
41,799,833 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9142:Armc2
|
UTSW |
10 |
41,851,404 (GRCm39) |
missense |
probably benign |
0.00 |
R9227:Armc2
|
UTSW |
10 |
41,823,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9230:Armc2
|
UTSW |
10 |
41,823,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9320:Armc2
|
UTSW |
10 |
41,839,774 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9708:Armc2
|
UTSW |
10 |
41,839,744 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9743:Armc2
|
UTSW |
10 |
41,798,598 (GRCm39) |
missense |
probably benign |
0.25 |
R9746:Armc2
|
UTSW |
10 |
41,800,457 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Armc2
|
UTSW |
10 |
41,839,652 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Armc2
|
UTSW |
10 |
41,803,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTCAAGTCCTTTCACAGTCC -3'
(R):5'- AGAAGCCCAGCCGTTATGATAAC -3'
Sequencing Primer
(F):5'- ACAGTCCCTTCTCCAAGTGATAATC -3'
(R):5'- GCCGTTATGATAACAATCTAAAACCC -3'
|
Posted On |
2015-03-25 |