Incidental Mutation 'R0849:Armc9'
ID |
77041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc9
|
Ensembl Gene |
ENSMUSG00000062590 |
Gene Name |
armadillo repeat containing 9 |
Synonyms |
4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik |
MMRRC Submission |
039028-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.660)
|
Stock # |
R0849 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86184992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 681
(R681K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000126579]
[ENSMUST00000131412]
[ENSMUST00000150059]
[ENSMUST00000156675]
|
AlphaFold |
Q9D2I5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027434
AA Change: R681K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000027434 Gene: ENSMUSG00000062590 AA Change: R681K
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 benign
Transcript: ENSMUST00000113309
AA Change: R681K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108934 Gene: ENSMUSG00000062590 AA Change: R681K
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 |
silent
Transcript: ENSMUST00000126579
|
Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000150059
|
SMART Domains |
Protein: ENSMUSP00000116908 Gene: ENSMUSG00000062590
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
1 |
168 |
4e-9 |
SMART |
|
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 |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
T |
C |
12: 52,566,406 (GRCm39) |
F1126L |
probably benign |
Het |
Arhgef11 |
G |
T |
3: 87,643,203 (GRCm39) |
A1472S |
probably benign |
Het |
Atxn2 |
T |
A |
5: 121,885,484 (GRCm39) |
|
probably null |
Het |
B3gnt6 |
C |
A |
7: 97,843,950 (GRCm39) |
L3F |
probably benign |
Het |
Cand2 |
A |
G |
6: 115,769,352 (GRCm39) |
T721A |
probably damaging |
Het |
Cntn2 |
A |
T |
1: 132,450,124 (GRCm39) |
M590K |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,644,418 (GRCm39) |
D622V |
probably damaging |
Het |
Des |
T |
G |
1: 75,337,272 (GRCm39) |
S71A |
probably benign |
Het |
Dnah5 |
C |
A |
15: 28,263,745 (GRCm39) |
R827S |
probably damaging |
Het |
Dstn |
G |
A |
2: 143,780,455 (GRCm39) |
G52S |
probably benign |
Het |
Eln |
T |
A |
5: 134,736,835 (GRCm39) |
R704* |
probably null |
Het |
Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
Hs3st2 |
A |
G |
7: 121,100,255 (GRCm39) |
E367G |
possibly damaging |
Het |
Hydin |
G |
A |
8: 111,325,616 (GRCm39) |
R4675H |
probably damaging |
Het |
Inhca |
A |
C |
9: 103,140,256 (GRCm39) |
Y488D |
possibly damaging |
Het |
Irf2bp1 |
T |
C |
7: 18,738,659 (GRCm39) |
S100P |
possibly damaging |
Het |
Itga10 |
A |
G |
3: 96,559,846 (GRCm39) |
I500M |
possibly damaging |
Het |
Kcnt2 |
T |
C |
1: 140,435,500 (GRCm39) |
V496A |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
Mrgprb4 |
G |
A |
7: 47,848,868 (GRCm39) |
T20I |
probably benign |
Het |
Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
Or12e8 |
G |
T |
2: 87,188,609 (GRCm39) |
V274L |
probably benign |
Het |
Or2y10 |
G |
A |
11: 49,455,129 (GRCm39) |
C127Y |
probably damaging |
Het |
Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
Ppfia4 |
A |
T |
1: 134,247,110 (GRCm39) |
F537I |
probably benign |
Het |
Rarb |
A |
G |
14: 16,434,293 (GRCm38) |
V295A |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Sv2c |
C |
T |
13: 96,126,319 (GRCm39) |
G311D |
probably damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,856 (GRCm39) |
I25V |
probably benign |
Het |
Tbcel |
A |
C |
9: 42,348,453 (GRCm39) |
I305S |
probably damaging |
Het |
Tmem35b |
A |
G |
4: 127,019,990 (GRCm39) |
|
probably null |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,966 (GRCm39) |
I244T |
possibly damaging |
Het |
Usp9y |
C |
A |
Y: 1,394,002 (GRCm39) |
C576F |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,853,072 (GRCm39) |
N629K |
possibly damaging |
Het |
Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,674,142 (GRCm39) |
Y400C |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATCTCAGGCACAGTCACTTCCTC -3'
(R):5'- AGCTGTGAGCGGTAGACACATTG -3'
Sequencing Primer
(F):5'- AGTCACTTCCTCCATCTTCTTGTAG -3'
(R):5'- ATCTGGCAGCATGACTGG -3'
|
Posted On |
2013-10-16 |