Incidental Mutation 'R8030:Armc2'
| ID |
617901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc2
|
| Ensembl Gene |
ENSMUSG00000071324 |
| Gene Name |
armadillo repeat containing 2 |
| Synonyms |
2610018I05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41790986-41894438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41842738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 355
(N355I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095729]
[ENSMUST00000160262]
[ENSMUST00000161927]
|
| AlphaFold |
Q3URY6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095729
AA Change: N355I
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: N355I
| 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 |
possibly damaging
Transcript: ENSMUST00000160262
AA Change: N355I
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: N355I
| 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: ENSMUST00000161927
|
| SMART Domains |
Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,970 (GRCm39) |
S98P |
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,011,534 (GRCm39) |
V1170I |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,371,228 (GRCm39) |
T1786A |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,676,898 (GRCm39) |
I141T |
possibly damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,322,244 (GRCm39) |
V266A |
possibly damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,489,600 (GRCm39) |
I311F |
probably damaging |
Het |
| Armh1 |
T |
A |
4: 117,087,184 (GRCm39) |
K160N |
probably benign |
Het |
| Asic1 |
A |
T |
15: 99,592,722 (GRCm39) |
T236S |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,718,407 (GRCm39) |
D424E |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,357,816 (GRCm39) |
Q197L |
probably damaging |
Het |
| Ccdc136 |
T |
C |
6: 29,417,141 (GRCm39) |
V654A |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,259,787 (GRCm39) |
G2383V |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,588,386 (GRCm39) |
K182E |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,222,628 (GRCm39) |
S615T |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab14 |
A |
G |
4: 115,623,599 (GRCm39) |
Q390R |
probably benign |
Het |
| Eif4ebp2 |
G |
A |
10: 61,270,825 (GRCm39) |
A68V |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,010,191 (GRCm39) |
S149P |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,095,839 (GRCm39) |
I193V |
possibly damaging |
Het |
| Flvcr2 |
T |
A |
12: 85,845,312 (GRCm39) |
V377D |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,946,756 (GRCm39) |
R185C |
possibly damaging |
Het |
| Gucy1b2 |
C |
T |
14: 62,630,319 (GRCm39) |
S809N |
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,020 (GRCm39) |
N198K |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,689 (GRCm39) |
F643Y |
possibly damaging |
Het |
| Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,526,629 (GRCm39) |
V846A |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 87,005,082 (GRCm39) |
G89W |
probably damaging |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mb21d2 |
A |
G |
16: 28,646,555 (GRCm39) |
F473S |
probably damaging |
Het |
| Mcrip2 |
G |
A |
17: 26,083,306 (GRCm39) |
Q111* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,248,724 (GRCm39) |
Y741H |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,135 (GRCm39) |
I544T |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,977 (GRCm39) |
E276G |
probably damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,565 (GRCm39) |
N233S |
probably benign |
Het |
| Nrip2 |
A |
T |
6: 128,383,484 (GRCm39) |
D124V |
possibly damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,586 (GRCm39) |
V43I |
probably benign |
Het |
| Or8k16 |
T |
A |
2: 85,520,063 (GRCm39) |
C97S |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,952,282 (GRCm39) |
A250S |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,208,964 (GRCm39) |
L149P |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,008,568 (GRCm39) |
I445F |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,116 (GRCm39) |
F33L |
probably damaging |
Het |
| Pkp2 |
A |
T |
16: 16,064,774 (GRCm39) |
M433L |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,969,776 (GRCm39) |
|
probably null |
Het |
| Rd3l |
A |
G |
12: 111,946,584 (GRCm39) |
L64P |
possibly damaging |
Het |
| Rnf220 |
A |
G |
4: 117,135,025 (GRCm39) |
Y409H |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,082,938 (GRCm39) |
T567A |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,587,371 (GRCm39) |
I477T |
probably damaging |
Het |
| Sltm |
C |
T |
9: 70,493,261 (GRCm39) |
R753* |
probably null |
Het |
| Specc1l |
T |
A |
10: 75,084,389 (GRCm39) |
M687K |
probably damaging |
Het |
| Spock3 |
T |
G |
8: 63,805,232 (GRCm39) |
C338G |
probably damaging |
Het |
| Ssh2 |
C |
A |
11: 77,345,332 (GRCm39) |
Q1106K |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,326,146 (GRCm39) |
M251V |
not run |
Het |
| Tdrd5 |
C |
A |
1: 156,098,165 (GRCm39) |
E711* |
probably null |
Het |
| Thop1 |
T |
C |
10: 80,911,450 (GRCm39) |
M112T |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,535,737 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
C |
5: 111,433,922 (GRCm39) |
I2319L |
possibly damaging |
Het |
| Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
| Txndc8 |
T |
C |
4: 57,984,178 (GRCm39) |
E151G |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,855 (GRCm39) |
E533G |
probably damaging |
Het |
| Zscan4f |
A |
G |
7: 11,135,290 (GRCm39) |
H232R |
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 |
|
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 |
|
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'- CAACTCTGATGCCCTAGAGC -3'
(R):5'- CTGAGTTAGGTATGGTAGCTGACAC -3'
Sequencing Primer
(F):5'- TAGAGCCGGAGCCATCTC -3'
(R):5'- AGGTGGCCTAAACCTTCCTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation