Incidental Mutation 'IGL00468:Armc9'
| ID |
332431 |
| 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 # |
IGL00468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86126061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 51
(Y51H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000131412]
[ENSMUST00000150059]
[ENSMUST00000156675]
|
| AlphaFold |
Q9D2I5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027434
AA Change: Y479H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: Y479H
| 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: Y479H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: Y479H
| 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 |
probably damaging
Transcript: ENSMUST00000131412
AA Change: Y479H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: Y479H
| 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: Y51H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116908
Gene: ENSMUSG00000062590
AA Change: Y51H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
1 |
168 |
4e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156675
|
| SMART Domains |
Protein: ENSMUSP00000119749
Gene: ENSMUSG00000062590
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Bcl11b |
A |
G |
12: 107,932,074 (GRCm39) |
V166A |
possibly damaging |
Het |
| Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
| Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,135 (GRCm39) |
V468M |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
| Glt6d1 |
A |
C |
2: 25,701,041 (GRCm39) |
L36R |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,569,391 (GRCm39) |
E396A |
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
| Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
| Nfil3 |
C |
A |
13: 53,121,610 (GRCm39) |
L431F |
probably damaging |
Het |
| Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
| Tox4 |
A |
G |
14: 52,523,202 (GRCm39) |
D54G |
probably damaging |
Het |
|
| Other mutations in Armc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation