Incidental Mutation 'IGL03011:Armc9'
| ID |
407795 |
| 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: 0.535)
|
| Stock # |
IGL03011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 86127638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000131412]
[ENSMUST00000150059]
[ENSMUST00000156675]
|
| AlphaFold |
Q9D2I5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027434
|
| SMART Domains |
Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
| 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 null
Transcript: ENSMUST00000113309
|
| SMART Domains |
Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
| 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 null
Transcript: ENSMUST00000131412
|
| SMART Domains |
Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
| 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 null
Transcript: ENSMUST00000150059
|
| SMART Domains |
Protein: ENSMUSP00000116908
Gene: ENSMUSG00000062590
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Apob |
C |
A |
12: 8,047,883 (GRCm39) |
P941Q |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,730 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
C |
A |
12: 105,592,621 (GRCm39) |
D1745Y |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,494,552 (GRCm39) |
V651A |
probably damaging |
Het |
| Ccnyl1 |
T |
C |
1: 64,747,631 (GRCm39) |
I148T |
possibly damaging |
Het |
| Cfap95 |
T |
A |
19: 23,630,017 (GRCm39) |
D25V |
unknown |
Het |
| Chrna6 |
A |
T |
8: 27,903,682 (GRCm39) |
W17R |
possibly damaging |
Het |
| Cpne1 |
G |
A |
2: 155,919,917 (GRCm39) |
H244Y |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,650,807 (GRCm39) |
Y618H |
possibly damaging |
Het |
| Csf1r |
T |
C |
18: 61,243,473 (GRCm39) |
I163T |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,434,606 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,370,806 (GRCm39) |
I6N |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,160,244 (GRCm39) |
N44S |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,976,112 (GRCm39) |
C2769Y |
probably benign |
Het |
| Efemp2 |
C |
A |
19: 5,530,093 (GRCm39) |
Q187K |
probably damaging |
Het |
| Elavl3 |
A |
T |
9: 21,947,612 (GRCm39) |
I109N |
probably damaging |
Het |
| Elovl5 |
G |
T |
9: 77,890,066 (GRCm39) |
K292N |
probably benign |
Het |
| Epb41 |
G |
T |
4: 131,731,105 (GRCm39) |
P1T |
probably damaging |
Het |
| Gm44865 |
G |
T |
7: 108,165,007 (GRCm39) |
|
probably benign |
Het |
| Gnat2 |
C |
A |
3: 108,007,368 (GRCm39) |
T262K |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,451,174 (GRCm39) |
C1102R |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,702,540 (GRCm39) |
I951F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,197,927 (GRCm39) |
H258R |
probably damaging |
Het |
| Lnx1 |
G |
A |
5: 74,846,420 (GRCm39) |
P10L |
probably benign |
Het |
| Lrp6 |
G |
A |
6: 134,497,380 (GRCm39) |
S209L |
possibly damaging |
Het |
| Mc3r |
A |
G |
2: 172,091,716 (GRCm39) |
I313V |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,051,859 (GRCm39) |
D468G |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,584,014 (GRCm39) |
S526P |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,400,357 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
T |
C |
10: 92,525,503 (GRCm39) |
D602G |
possibly damaging |
Het |
| Nol7 |
C |
T |
13: 43,554,769 (GRCm39) |
|
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,364 (GRCm39) |
I174T |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,731 (GRCm39) |
D329G |
probably benign |
Het |
| Pkia |
G |
T |
3: 7,507,142 (GRCm39) |
E75* |
probably null |
Het |
| Pramel26 |
A |
C |
4: 143,538,330 (GRCm39) |
F214V |
possibly damaging |
Het |
| Ptpn14 |
A |
T |
1: 189,571,754 (GRCm39) |
T282S |
probably damaging |
Het |
| Ptprg |
C |
T |
14: 12,219,029 (GRCm38) |
P408S |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,502,358 (GRCm39) |
I147V |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 103,997,397 (GRCm39) |
T375A |
possibly damaging |
Het |
| Serpinb11 |
T |
A |
1: 107,307,546 (GRCm39) |
S326T |
probably damaging |
Het |
| Slc18a1 |
T |
C |
8: 69,491,515 (GRCm39) |
T500A |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,350,529 (GRCm39) |
F247L |
possibly damaging |
Het |
| Trav8d-2 |
A |
G |
14: 53,280,218 (GRCm39) |
I69M |
possibly 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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation