Incidental Mutation 'R5517:Armc2'
| ID |
431362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc2
|
| Ensembl Gene |
ENSMUSG00000071324 |
| Gene Name |
armadillo repeat containing 2 |
| Synonyms |
|
| MMRRC Submission |
043076-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41914990-42018442 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41963850 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 373
(E373G)
|
| 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: E373G
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: E373G
| 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: E373G
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: E373G
| 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 |
0.0777 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 35,958,341 |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 78,039,691 |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,340,891 |
E283G |
probably benign |
Het |
| Akap2 |
T |
C |
4: 57,855,987 |
Y439H |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,001,665 |
D1477E |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,906,981 |
D273G |
possibly damaging |
Het |
| Apob |
T |
C |
12: 7,990,906 |
L664P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,563,489 |
F550L |
probably damaging |
Het |
| Atp8b2 |
C |
A |
3: 89,946,031 |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,255,887 |
Q87L |
probably damaging |
Het |
| Cd244 |
T |
A |
1: 171,577,974 |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,230,587 |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 135,223,265 |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,097,533 |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,851,176 |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,647,730 |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,250,852 |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,834,912 |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 37,959,873 |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,595,543 |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 87,059,506 |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,253,979 |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,954,800 |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,752,787 |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,774,881 |
T690M |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,715,809 |
N265S |
possibly damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,415,256 |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,164,871 |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,246,995 |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,560,226 |
M1189K |
probably benign |
Het |
| Olfr1302 |
G |
T |
2: 111,780,459 |
M46I |
probably benign |
Het |
| Olfr463 |
A |
T |
11: 87,893,066 |
I286N |
probably damaging |
Het |
| Olfr847 |
G |
A |
9: 19,375,767 |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 46,274,571 |
N1118S |
probably damaging |
Het |
| Pcdhb7 |
G |
T |
18: 37,341,793 |
|
probably benign |
Het |
| Picalm |
C |
T |
7: 90,170,598 |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,124,786 |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,458,312 |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 94,636,760 |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,495,713 |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,997,835 |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 23,872,592 |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,354,339 |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,414,913 |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,177,714 |
S367N |
probably damaging |
Het |
| Srpr |
T |
C |
9: 35,211,350 |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,940,729 |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,395,985 |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 127,198,607 |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,336,114 |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,375,674 |
T886A |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,050,717 |
D472G |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,204,746 |
N286S |
possibly damaging |
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 |
|
R5640:Armc2
|
UTSW |
10 |
42,011,898 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5767:Armc2
|
UTSW |
10 |
42,011,927 (GRCm38) |
missense |
probably benign |
0.02 |
|
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'- TTGTCGAGCACAGCACCTAC -3'
(R):5'- TGGTCGCATCACTGTTAATGGAG -3'
Sequencing Primer
(F):5'- CTAGCAAATGGCCAGAATCAG -3'
(R):5'- CGCATCACTGTTAATGGAGATTTGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation