Incidental Mutation 'R5767:Armc2'
| ID |
446335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc2
|
| Ensembl Gene |
ENSMUSG00000071324 |
| Gene Name |
armadillo repeat containing 2 |
| Synonyms |
|
| MMRRC Submission |
043367-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41914990-42018442 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42011927 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 20
(V20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095729]
[ENSMUST00000160262]
[ENSMUST00000161081]
[ENSMUST00000161927]
[ENSMUST00000162405]
|
| AlphaFold |
Q3URY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095729
AA Change: V20A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: V20A
| 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 |
probably benign
Transcript: ENSMUST00000160262
AA Change: V20A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: V20A
| 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 |
probably benign
Transcript: ENSMUST00000161081
AA Change: V20A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125719
Gene: ENSMUSG00000071324
AA Change: V20A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161927
AA Change: V20A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324
AA Change: V20A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162405
AA Change: V20A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000125583
Gene: ENSMUSG00000071324
AA Change: V20A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
A |
T |
10: 89,726,755 (GRCm38) |
D87E |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 36,994,229 (GRCm38) |
|
probably null |
Het |
| Ano3 |
A |
T |
2: 110,661,271 (GRCm38) |
Y887N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,060,093 (GRCm38) |
D313G |
probably damaging |
Het |
| C2 |
T |
A |
17: 34,876,456 (GRCm38) |
N171I |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 106,668,555 (GRCm38) |
N865K |
probably damaging |
Het |
| Cep89 |
T |
A |
7: 35,417,645 (GRCm38) |
V224E |
probably damaging |
Het |
| Dennd2d |
C |
T |
3: 106,487,815 (GRCm38) |
|
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,853,355 (GRCm38) |
K1157N |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,462,492 (GRCm38) |
L584* |
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,918,432 (GRCm38) |
A795T |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,765,209 (GRCm38) |
I242N |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,205,221 (GRCm38) |
H394R |
probably damaging |
Het |
| Gm27013 |
C |
T |
6: 130,675,958 (GRCm38) |
C847Y |
possibly damaging |
Het |
| Ifna5 |
C |
A |
4: 88,835,799 (GRCm38) |
T92K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,900,516 (GRCm38) |
M674V |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,839,570 (GRCm38) |
V1089M |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,258,869 (GRCm38) |
Y170F |
probably benign |
Het |
| Kif15 |
A |
G |
9: 123,013,974 (GRCm38) |
N45D |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,606,075 (GRCm38) |
K420E |
possibly damaging |
Het |
| Ms4a14 |
G |
T |
19: 11,302,027 (GRCm38) |
Q1056K |
probably benign |
Het |
| Olfr1053 |
T |
A |
2: 86,314,398 (GRCm38) |
E296V |
probably damaging |
Het |
| Olfr175-ps1 |
T |
C |
16: 58,823,953 (GRCm38) |
Y252C |
probably benign |
Het |
| Olfr738 |
T |
C |
14: 50,413,778 (GRCm38) |
V78A |
possibly damaging |
Het |
| Ovch2 |
T |
C |
7: 107,781,978 (GRCm38) |
E571G |
probably benign |
Het |
| Pmel |
T |
C |
10: 128,714,381 (GRCm38) |
V95A |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 44,989,142 (GRCm38) |
G60C |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,476,825 (GRCm38) |
S1122R |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,176,162 (GRCm38) |
D309G |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,715,919 (GRCm38) |
C303S |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Serpini1 |
C |
T |
3: 75,613,081 (GRCm38) |
|
probably benign |
Het |
| Sgo2a |
G |
T |
1: 58,019,660 (GRCm38) |
E1133* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 (GRCm38) |
Q436* |
probably null |
Het |
| Smarcc1 |
G |
A |
9: 110,132,183 (GRCm38) |
|
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,592,692 (GRCm38) |
E749G |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,599,982 (GRCm38) |
A260T |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,037,659 (GRCm38) |
Y54C |
probably damaging |
Het |
| Uhrf1bp1l |
A |
G |
10: 89,787,199 (GRCm38) |
D312G |
possibly damaging |
Het |
| Urb1 |
T |
A |
16: 90,776,163 (GRCm38) |
M994L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 10,009,935 (GRCm38) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,664,564 (GRCm38) |
Y2233C |
probably damaging |
Het |
| Wdr66 |
G |
A |
5: 123,298,521 (GRCm38) |
V1038I |
probably benign |
Het |
| Wnt2 |
G |
T |
6: 17,990,028 (GRCm38) |
A290E |
probably damaging |
Het |
| Zc3h8 |
A |
T |
2: 128,930,892 (GRCm38) |
C225* |
probably null |
Het |
|
| Other mutations in Armc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4131001:Armc2
|
UTSW |
10 |
41,947,887 (GRCm38) |
splice site |
probably benign |
|
|
R0144:Armc2
|
UTSW |
10 |
41,947,887 (GRCm38) |
splice site |
probably benign |
|
|
R0427:Armc2
|
UTSW |
10 |
42,000,410 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0540:Armc2
|
UTSW |
10 |
41,922,695 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0561:Armc2
|
UTSW |
10 |
41,993,192 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0607:Armc2
|
UTSW |
10 |
41,922,695 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1099:Armc2
|
UTSW |
10 |
41,917,187 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1130:Armc2
|
UTSW |
10 |
42,011,834 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2116:Armc2
|
UTSW |
10 |
41,963,667 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2870:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2870:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2871:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2871:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2872:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2872:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2873:Armc2
|
UTSW |
10 |
41,966,700 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3083:Armc2
|
UTSW |
10 |
41,966,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3771:Armc2
|
UTSW |
10 |
41,922,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3784:Armc2
|
UTSW |
10 |
41,922,194 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3880:Armc2
|
UTSW |
10 |
41,963,725 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4024:Armc2
|
UTSW |
10 |
41,993,058 (GRCm38) |
missense |
probably benign |
|
|
R4155:Armc2
|
UTSW |
10 |
42,011,867 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4370:Armc2
|
UTSW |
10 |
41,917,200 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4378:Armc2
|
UTSW |
10 |
41,993,082 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4896:Armc2
|
UTSW |
10 |
41,923,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5119:Armc2
|
UTSW |
10 |
41,922,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5159:Armc2
|
UTSW |
10 |
42,008,715 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5517:Armc2
|
UTSW |
10 |
41,963,850 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5640:Armc2
|
UTSW |
10 |
42,011,898 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5965:Armc2
|
UTSW |
10 |
41,922,572 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6897:Armc2
|
UTSW |
10 |
41,993,229 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7233:Armc2
|
UTSW |
10 |
41,923,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7829:Armc2
|
UTSW |
10 |
41,926,860 (GRCm38) |
missense |
probably benign |
|
|
R7832:Armc2
|
UTSW |
10 |
41,966,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7999:Armc2
|
UTSW |
10 |
42,011,958 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8029:Armc2
|
UTSW |
10 |
41,927,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8030:Armc2
|
UTSW |
10 |
41,966,742 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8033:Armc2
|
UTSW |
10 |
42,008,684 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8191:Armc2
|
UTSW |
10 |
41,963,751 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8304:Armc2
|
UTSW |
10 |
41,947,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8334:Armc2
|
UTSW |
10 |
41,923,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8370:Armc2
|
UTSW |
10 |
41,923,837 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9142:Armc2
|
UTSW |
10 |
41,975,408 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9227:Armc2
|
UTSW |
10 |
41,947,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9230:Armc2
|
UTSW |
10 |
41,947,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9320:Armc2
|
UTSW |
10 |
41,963,778 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9708:Armc2
|
UTSW |
10 |
41,963,748 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9743:Armc2
|
UTSW |
10 |
41,922,602 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9746:Armc2
|
UTSW |
10 |
41,924,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Armc2
|
UTSW |
10 |
41,963,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Armc2
|
UTSW |
10 |
41,927,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAACATGTAACCTGGTGG -3'
(R):5'- TCCTCCTGGCTGTATGTATAGAG -3'
Sequencing Primer
(F):5'- TGTAGACCACAGCCAGGC -3'
(R):5'- CCTGGCTGTATGTATAGAGTAGTAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation