Incidental Mutation 'R4024:Armc2'
ID |
313409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc2
|
Ensembl Gene |
ENSMUSG00000071324 |
Gene Name |
armadillo repeat containing 2 |
Synonyms |
2610018I05Rik |
MMRRC Submission |
041612-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4024 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41790986-41894438 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41869054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 37
(S37P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125635
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095729]
[ENSMUST00000160262]
[ENSMUST00000161167]
[ENSMUST00000161927]
|
AlphaFold |
Q3URY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095729
AA Change: S211P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093397 Gene: ENSMUSG00000071324 AA Change: S211P
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: S211P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125412 Gene: ENSMUSG00000071324 AA Change: S211P
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: ENSMUST00000161167
AA Change: S37P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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 |
0.0709 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,215,251 (GRCm39) |
Y842H |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,849,765 (GRCm39) |
|
probably benign |
Het |
Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
Bhmt2 |
G |
A |
13: 93,799,839 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
A |
T |
2: 154,054,966 (GRCm39) |
D286V |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,705,539 (GRCm38) |
E285D |
probably damaging |
Het |
Cap2 |
C |
T |
13: 46,791,317 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
Cmip |
A |
G |
8: 118,174,155 (GRCm39) |
I412V |
possibly damaging |
Het |
Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,324,147 (GRCm39) |
S565G |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,821 (GRCm39) |
Y60C |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,074 (GRCm39) |
V170A |
possibly damaging |
Het |
Foxk2 |
T |
A |
11: 121,176,439 (GRCm39) |
I195N |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gpr6 |
G |
A |
10: 40,947,264 (GRCm39) |
T106M |
probably damaging |
Het |
Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
Hnmt |
T |
C |
2: 23,893,777 (GRCm39) |
D239G |
probably benign |
Het |
Igf2 |
A |
G |
7: 142,208,044 (GRCm39) |
V111A |
probably benign |
Het |
Lrriq3 |
G |
A |
3: 154,893,939 (GRCm39) |
E547K |
probably benign |
Het |
Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
Mroh8 |
A |
G |
2: 157,098,272 (GRCm39) |
V292A |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,776 (GRCm39) |
|
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,026,154 (GRCm39) |
T195A |
probably benign |
Het |
Or10aa3 |
C |
T |
1: 173,878,683 (GRCm39) |
T248I |
probably benign |
Het |
Or2t47 |
G |
A |
11: 58,442,222 (GRCm39) |
T281I |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
Or8w1 |
T |
A |
2: 87,465,499 (GRCm39) |
L197F |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,309,207 (GRCm39) |
V233A |
probably damaging |
Het |
Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
Sash1 |
T |
C |
10: 8,605,681 (GRCm39) |
D903G |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,937,674 (GRCm39) |
D1681G |
probably damaging |
Het |
Slk |
A |
G |
19: 47,610,809 (GRCm39) |
|
probably null |
Het |
Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
Tlr11 |
C |
T |
14: 50,600,303 (GRCm39) |
T763I |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,590,736 (GRCm39) |
T308A |
possibly damaging |
Het |
Tyk2 |
G |
A |
9: 21,027,215 (GRCm39) |
L552F |
probably damaging |
Het |
Ubp1 |
A |
G |
9: 113,773,951 (GRCm39) |
D50G |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,873,915 (GRCm39) |
I1172N |
possibly damaging |
Het |
Usf3 |
T |
A |
16: 44,036,528 (GRCm39) |
V336E |
possibly damaging |
Het |
Vangl2 |
T |
C |
1: 171,835,608 (GRCm39) |
S355G |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,284,061 (GRCm39) |
D248G |
probably damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,117,510 (GRCm39) |
V701A |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,071,961 (GRCm39) |
|
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,544 (GRCm39) |
C258S |
possibly damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
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'- GGTTGCTAAGGATGCAACCG -3'
(R):5'- GCAAAGACCGTGGACGAATC -3'
Sequencing Primer
(F):5'- CCTAGCCAACCATAAGGAGAG -3'
(R):5'- CCAGCAAACCCGTTAGCGTG -3'
|
Posted On |
2015-04-30 |