Incidental Mutation 'IGL02680:Armc9'
| ID |
303346 |
| 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 # |
IGL02680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86180000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 107
(I107T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000126579]
[ENSMUST00000131412]
[ENSMUST00000150059]
[ENSMUST00000156675]
|
| AlphaFold |
Q9D2I5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027434
AA Change: I628T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: I628T
| 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 |
probably damaging
Transcript: ENSMUST00000113309
AA Change: I628T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: I628T
| 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 |
probably benign
Transcript: ENSMUST00000126579
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131412
AA Change: I628T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: I628T
| 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: ENSMUST00000135973
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150059
AA Change: I217T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116908
Gene: ENSMUSG00000062590
AA Change: I217T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
1 |
168 |
4e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156675
AA Change: I107T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119749
Gene: ENSMUSG00000062590
AA Change: I107T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
6 |
100 |
3e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
| Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
| Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
| Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
| Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
| Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
| Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
| Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
| Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
| Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
| Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
| Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
| Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
probably benign |
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 |
|
|
IGL02143:Armc9
|
APN |
1 |
86,104,587 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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 |
Incidental Mutation