Incidental Mutation 'R5517:Armc2'
| ID |
431362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc2
|
| Ensembl Gene |
ENSMUSG00000071324 |
| Gene Name |
armadillo repeat containing 2 |
| Synonyms |
2610018I05Rik |
| 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 |
41790986-41894438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41839846 bp (GRCm39)
|
| 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: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
| Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
| Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
| Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
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 |
|
R3784:Armc2
|
UTSW |
10 |
41,798,190 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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'- TTGTCGAGCACAGCACCTAC -3'
(R):5'- TGGTCGCATCACTGTTAATGGAG -3'
Sequencing Primer
(F):5'- CTAGCAAATGGCCAGAATCAG -3'
(R):5'- CGCATCACTGTTAATGGAGATTTGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation