Incidental Mutation 'R6027:Armc9'
ID |
480086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc9
|
Ensembl Gene |
ENSMUSG00000062590 |
Gene Name |
armadillo repeat containing 9 |
Synonyms |
4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik |
MMRRC Submission |
044199-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.660)
|
Stock # |
R6027 (G1)
|
Quality Score |
112.008 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 86172389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 105
(L105F)
|
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: L626F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027434 Gene: ENSMUSG00000062590 AA Change: L626F
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: L626F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108934 Gene: ENSMUSG00000062590 AA Change: L626F
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: ENSMUST00000126579
AA Change: L34F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131412
AA Change: L626F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117267 Gene: ENSMUSG00000062590 AA Change: L626F
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: L215F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116908 Gene: ENSMUSG00000062590 AA Change: L215F
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
1 |
168 |
4e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156675
AA Change: L105F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119749 Gene: ENSMUSG00000062590 AA Change: L105F
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
6 |
100 |
3e-3 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,289,003 (GRCm39) |
V2299A |
probably benign |
Het |
Acacb |
A |
G |
5: 114,303,661 (GRCm39) |
D28G |
probably benign |
Het |
Adamts6 |
G |
A |
13: 104,616,043 (GRCm39) |
G1035D |
probably damaging |
Het |
Adamts7 |
A |
C |
9: 90,073,078 (GRCm39) |
Y755S |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,791,528 (GRCm39) |
T763A |
possibly damaging |
Het |
Asah2 |
T |
C |
19: 32,022,351 (GRCm39) |
N228D |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Aspm |
T |
G |
1: 139,390,794 (GRCm39) |
V693G |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,965,771 (GRCm39) |
E1141G |
probably damaging |
Het |
Col12a1 |
C |
T |
9: 79,563,860 (GRCm39) |
|
probably null |
Het |
Csmd2 |
G |
A |
4: 128,453,739 (GRCm39) |
D3475N |
unknown |
Het |
Dctn5 |
T |
C |
7: 121,732,564 (GRCm39) |
|
probably benign |
Het |
Dhrs4 |
A |
G |
14: 55,723,580 (GRCm39) |
K18E |
probably benign |
Het |
Eci2 |
A |
T |
13: 35,169,930 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,851,922 (GRCm39) |
F319L |
probably benign |
Het |
Elane |
A |
T |
10: 79,722,852 (GRCm39) |
H86L |
probably damaging |
Het |
Endod1 |
A |
T |
9: 14,268,893 (GRCm39) |
Y197* |
probably null |
Het |
Eno4 |
A |
G |
19: 58,935,262 (GRCm39) |
D158G |
probably damaging |
Het |
Fam217a |
T |
A |
13: 35,094,977 (GRCm39) |
T170S |
possibly damaging |
Het |
Fbxo7 |
A |
G |
10: 85,883,950 (GRCm39) |
D517G |
probably damaging |
Het |
Fkbp3 |
G |
T |
12: 65,120,692 (GRCm39) |
A2E |
possibly damaging |
Het |
Gan |
A |
G |
8: 117,885,034 (GRCm39) |
Y54C |
probably damaging |
Het |
Gdap1l1 |
T |
A |
2: 163,293,531 (GRCm39) |
N194K |
possibly damaging |
Het |
Gnptab |
A |
G |
10: 88,269,087 (GRCm39) |
T597A |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,678,646 (GRCm39) |
S492P |
possibly damaging |
Het |
Hmox1 |
C |
A |
8: 75,823,499 (GRCm39) |
H56N |
probably damaging |
Het |
Kank3 |
C |
T |
17: 34,037,088 (GRCm39) |
P131S |
possibly damaging |
Het |
Kif14 |
T |
C |
1: 136,410,797 (GRCm39) |
|
probably null |
Het |
Kif1a |
A |
T |
1: 92,953,365 (GRCm39) |
M1274K |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,907,299 (GRCm39) |
|
probably null |
Het |
Man2b1 |
C |
T |
8: 85,823,381 (GRCm39) |
T905I |
probably damaging |
Het |
Mmp15 |
C |
A |
8: 96,098,804 (GRCm39) |
H544N |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,208,259 (GRCm39) |
N1933K |
probably benign |
Het |
Ndst4 |
G |
T |
3: 125,507,025 (GRCm39) |
A730S |
probably benign |
Het |
Nmur1 |
G |
A |
1: 86,315,053 (GRCm39) |
Q238* |
probably null |
Het |
Nwd2 |
C |
T |
5: 63,965,563 (GRCm39) |
P1716S |
possibly damaging |
Het |
Or13c7c |
A |
G |
4: 43,835,842 (GRCm39) |
V216A |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8k38 |
T |
G |
2: 86,488,148 (GRCm39) |
Y218S |
probably damaging |
Het |
P2ry6 |
T |
G |
7: 100,587,715 (GRCm39) |
M215L |
probably benign |
Het |
Parp4 |
G |
A |
14: 56,866,615 (GRCm39) |
E1060K |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,183,509 (GRCm39) |
I822V |
possibly damaging |
Het |
Pira13 |
T |
C |
7: 3,827,638 (GRCm39) |
Y173C |
possibly damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,866,272 (GRCm39) |
G528* |
probably null |
Het |
Ptk2 |
T |
A |
15: 73,101,762 (GRCm39) |
Q816L |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,220,613 (GRCm38) |
F442L |
possibly damaging |
Het |
Qrfpr |
A |
G |
3: 36,276,187 (GRCm39) |
Y68H |
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,545,274 (GRCm39) |
W458R |
probably damaging |
Het |
Ros1 |
G |
T |
10: 52,040,064 (GRCm39) |
T309N |
possibly damaging |
Het |
Rps27a |
T |
C |
11: 29,497,808 (GRCm39) |
|
probably benign |
Het |
Sarm1 |
T |
A |
11: 78,374,384 (GRCm39) |
M577L |
probably benign |
Het |
Scin |
T |
C |
12: 40,127,515 (GRCm39) |
Y425C |
probably damaging |
Het |
Serpina12 |
T |
A |
12: 103,997,336 (GRCm39) |
Y395F |
probably benign |
Het |
Sfxn2 |
T |
A |
19: 46,571,291 (GRCm39) |
Y69* |
probably null |
Het |
Skint6 |
T |
C |
4: 112,953,761 (GRCm39) |
|
probably null |
Het |
Slc7a1 |
A |
C |
5: 148,270,774 (GRCm39) |
I564S |
possibly damaging |
Het |
Smc6 |
T |
A |
12: 11,356,179 (GRCm39) |
Y933N |
probably benign |
Het |
Sp110 |
T |
C |
1: 85,505,039 (GRCm39) |
S438G |
possibly damaging |
Het |
St8sia4 |
T |
A |
1: 95,581,399 (GRCm39) |
R114S |
probably damaging |
Het |
Trim11 |
C |
T |
11: 58,869,289 (GRCm39) |
A75V |
possibly damaging |
Het |
Tufm |
T |
A |
7: 126,086,920 (GRCm39) |
H68Q |
probably damaging |
Het |
Ythdc2 |
T |
A |
18: 44,993,503 (GRCm39) |
D194E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGCCTGAGACCTTATTTC -3'
(R):5'- TCCACTTCCGTACATCAGTAGG -3'
Sequencing Primer
(F):5'- GAGACCTTATTTCATGGCAACTGC -3'
(R):5'- AGTAGGTCTATCCATCTCTGACAGG -3'
|
Posted On |
2017-06-26 |