Incidental Mutation 'IGL02143:Armc9'
ID |
281670 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Armc9
|
Ensembl Gene |
ENSMUSG00000062590 |
Gene Name |
armadillo repeat containing 9 |
Synonyms |
4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.660)
|
Stock # |
IGL02143
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86104587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 279
(M279V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000131412]
|
AlphaFold |
Q9D2I5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027434
AA Change: M279V
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000027434 Gene: ENSMUSG00000062590 AA Change: M279V
Domain | Start | End | E-Value | Type |
LisH
|
7 |
39 |
1.8e-4 |
SMART |
low complexity region
|
175 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
206 |
242 |
N/A |
INTRINSIC |
SCOP:d1jdha_
|
377 |
575 |
8e-14 |
SMART |
low complexity region
|
793 |
807 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113309
AA Change: M279V
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108934 Gene: ENSMUSG00000062590 AA Change: M279V
Domain | Start | End | E-Value | Type |
LisH
|
7 |
39 |
1.8e-4 |
SMART |
low complexity region
|
175 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
206 |
242 |
N/A |
INTRINSIC |
SCOP:d1jdha_
|
377 |
575 |
8e-14 |
SMART |
low complexity region
|
794 |
808 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123618
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131412
AA Change: M279V
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117267 Gene: ENSMUSG00000062590 AA Change: M279V
Domain | Start | End | E-Value | Type |
LisH
|
7 |
39 |
1.8e-4 |
SMART |
low complexity region
|
175 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
206 |
242 |
N/A |
INTRINSIC |
SCOP:d1jdha_
|
377 |
575 |
4e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153653
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155168
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
C |
9: 122,194,278 (GRCm39) |
M1T |
probably null |
Het |
Ager |
G |
A |
17: 34,818,092 (GRCm39) |
G183E |
probably damaging |
Het |
Alcam |
C |
A |
16: 52,125,982 (GRCm39) |
V112L |
probably damaging |
Het |
Amot |
T |
A |
X: 144,270,024 (GRCm39) |
Q204H |
probably damaging |
Het |
Ankar |
C |
T |
1: 72,697,808 (GRCm39) |
|
probably null |
Het |
Bpifb1 |
C |
T |
2: 154,051,849 (GRCm39) |
T218I |
probably benign |
Het |
Cacna1f |
A |
C |
X: 7,480,234 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,395,474 (GRCm39) |
|
probably null |
Het |
Ccdc57 |
A |
T |
11: 120,752,069 (GRCm39) |
C837* |
probably null |
Het |
Ctbp2 |
G |
A |
7: 132,592,885 (GRCm39) |
A808V |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,268,889 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
C |
14: 99,328,754 (GRCm39) |
|
probably benign |
Het |
Disp2 |
T |
C |
2: 118,620,450 (GRCm39) |
F394S |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,005,246 (GRCm39) |
N2336S |
probably damaging |
Het |
Drap1 |
C |
A |
19: 5,473,871 (GRCm39) |
L66F |
probably damaging |
Het |
Eif5a2 |
C |
T |
3: 28,847,888 (GRCm39) |
R109C |
probably benign |
Het |
Enpp1 |
A |
T |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
Evi5l |
G |
A |
8: 4,241,293 (GRCm39) |
M275I |
probably damaging |
Het |
Flt1 |
T |
C |
5: 147,515,246 (GRCm39) |
T1059A |
probably benign |
Het |
Fndc3c1 |
T |
C |
X: 105,516,340 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
C |
11: 77,396,813 (GRCm39) |
V645A |
possibly damaging |
Het |
Gm7735 |
T |
A |
16: 88,966,437 (GRCm39) |
C20* |
probably null |
Het |
Ighv1-42 |
G |
T |
12: 114,900,906 (GRCm39) |
P60T |
probably benign |
Het |
Jakmip2 |
A |
T |
18: 43,696,350 (GRCm39) |
L533Q |
probably damaging |
Het |
Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
Lpin2 |
T |
C |
17: 71,550,921 (GRCm39) |
S694P |
probably damaging |
Het |
Mab21l2 |
C |
T |
3: 86,454,562 (GRCm39) |
R146Q |
possibly damaging |
Het |
Mmp1b |
A |
T |
9: 7,386,400 (GRCm39) |
S174T |
probably benign |
Het |
Neb |
T |
C |
2: 52,181,211 (GRCm39) |
Y1132C |
probably damaging |
Het |
Nhsl1 |
A |
T |
10: 18,387,383 (GRCm39) |
H219L |
possibly damaging |
Het |
Nwd2 |
T |
A |
5: 63,948,996 (GRCm39) |
|
probably null |
Het |
Obp1a |
A |
C |
X: 77,134,449 (GRCm39) |
M18R |
possibly damaging |
Het |
Or13a19 |
A |
T |
7: 139,903,505 (GRCm39) |
K298* |
probably null |
Het |
Or2ag13 |
T |
C |
7: 106,473,180 (GRCm39) |
T91A |
probably benign |
Het |
Pabpc5 |
T |
A |
X: 118,837,688 (GRCm39) |
M1K |
probably null |
Het |
Paxip1 |
A |
G |
5: 27,980,596 (GRCm39) |
|
probably benign |
Het |
Perm1 |
A |
G |
4: 156,302,500 (GRCm39) |
E348G |
probably benign |
Het |
Pfkfb1 |
T |
C |
X: 149,405,138 (GRCm39) |
F170L |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,686 (GRCm39) |
M461V |
probably benign |
Het |
Ppfia2 |
G |
A |
10: 106,693,360 (GRCm39) |
D622N |
probably damaging |
Het |
Prtg |
T |
G |
9: 72,799,606 (GRCm39) |
S801R |
probably damaging |
Het |
Rars2 |
T |
A |
4: 34,623,404 (GRCm39) |
|
probably benign |
Het |
Rasal1 |
A |
G |
5: 120,790,917 (GRCm39) |
D35G |
probably damaging |
Het |
Repin1 |
T |
A |
6: 48,574,055 (GRCm39) |
L272Q |
probably damaging |
Het |
Spmip5 |
C |
A |
19: 58,777,684 (GRCm39) |
R34L |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,655,728 (GRCm39) |
|
probably benign |
Het |
Tbxa2r |
A |
G |
10: 81,170,320 (GRCm39) |
T269A |
probably benign |
Het |
Tmem132c |
G |
A |
5: 127,640,466 (GRCm39) |
R879Q |
probably benign |
Het |
Vmn1r78 |
C |
A |
7: 11,886,407 (GRCm39) |
A6E |
probably benign |
Het |
Vps45 |
A |
T |
3: 95,941,133 (GRCm39) |
N369K |
probably benign |
Het |
Vps45 |
T |
C |
3: 95,926,958 (GRCm39) |
I530V |
probably benign |
Het |
Zkscan16 |
G |
A |
4: 58,956,911 (GRCm39) |
G398R |
probably damaging |
Het |
|
Other mutations in Armc9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00468:Armc9
|
APN |
1 |
86,126,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00771:Armc9
|
APN |
1 |
86,127,557 (GRCm39) |
splice site |
probably null |
|
IGL01689:Armc9
|
APN |
1 |
86,202,140 (GRCm39) |
missense |
probably benign |
|
IGL02680:Armc9
|
APN |
1 |
86,180,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Armc9
|
APN |
1 |
86,172,293 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02887:Armc9
|
APN |
1 |
86,092,557 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Armc9
|
APN |
1 |
86,127,638 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03309:Armc9
|
APN |
1 |
86,202,155 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0184:Armc9
|
UTSW |
1 |
86,126,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Armc9
|
UTSW |
1 |
86,121,984 (GRCm39) |
splice site |
probably null |
|
R0787:Armc9
|
UTSW |
1 |
86,130,227 (GRCm39) |
missense |
probably damaging |
0.99 |
R0849:Armc9
|
UTSW |
1 |
86,184,992 (GRCm39) |
missense |
probably benign |
0.00 |
R1687:Armc9
|
UTSW |
1 |
86,084,677 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1962:Armc9
|
UTSW |
1 |
86,135,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R2176:Armc9
|
UTSW |
1 |
86,127,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R3418:Armc9
|
UTSW |
1 |
86,122,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R3419:Armc9
|
UTSW |
1 |
86,122,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Armc9
|
UTSW |
1 |
86,140,851 (GRCm39) |
intron |
probably benign |
|
R4112:Armc9
|
UTSW |
1 |
86,116,661 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4151:Armc9
|
UTSW |
1 |
86,092,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R4675:Armc9
|
UTSW |
1 |
86,130,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Armc9
|
UTSW |
1 |
86,140,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Armc9
|
UTSW |
1 |
86,202,256 (GRCm39) |
missense |
probably damaging |
0.98 |
R5069:Armc9
|
UTSW |
1 |
86,184,959 (GRCm39) |
missense |
probably benign |
0.03 |
R5070:Armc9
|
UTSW |
1 |
86,184,959 (GRCm39) |
missense |
probably benign |
0.03 |
R5071:Armc9
|
UTSW |
1 |
86,113,838 (GRCm39) |
missense |
probably benign |
0.01 |
R5238:Armc9
|
UTSW |
1 |
86,127,569 (GRCm39) |
missense |
probably benign |
0.01 |
R5386:Armc9
|
UTSW |
1 |
86,126,011 (GRCm39) |
missense |
probably null |
1.00 |
R5459:Armc9
|
UTSW |
1 |
86,135,694 (GRCm39) |
missense |
probably damaging |
0.97 |
R6027:Armc9
|
UTSW |
1 |
86,172,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6144:Armc9
|
UTSW |
1 |
86,172,301 (GRCm39) |
missense |
probably benign |
0.06 |
R7111:Armc9
|
UTSW |
1 |
86,087,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R7237:Armc9
|
UTSW |
1 |
86,092,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7304:Armc9
|
UTSW |
1 |
86,090,437 (GRCm39) |
missense |
probably benign |
|
R7452:Armc9
|
UTSW |
1 |
86,140,814 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7555:Armc9
|
UTSW |
1 |
86,203,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7805:Armc9
|
UTSW |
1 |
86,124,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R8490:Armc9
|
UTSW |
1 |
86,202,125 (GRCm39) |
missense |
probably benign |
0.00 |
R8513:Armc9
|
UTSW |
1 |
86,090,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Armc9
|
UTSW |
1 |
86,189,766 (GRCm39) |
missense |
probably benign |
|
R9439:Armc9
|
UTSW |
1 |
86,084,687 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1177:Armc9
|
UTSW |
1 |
86,124,077 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Armc9
|
UTSW |
1 |
86,104,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |