Incidental Mutation 'R0787:Armc9'
ID |
76882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc9
|
Ensembl Gene |
ENSMUSG00000062590 |
Gene Name |
armadillo repeat containing 9 |
Synonyms |
4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik |
MMRRC Submission |
038967-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.535)
|
Stock # |
R0787 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86130227 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 524
(N524D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000131412]
[ENSMUST00000150059]
[ENSMUST00000156675]
|
AlphaFold |
Q9D2I5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027434
AA Change: N524D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027434 Gene: ENSMUSG00000062590 AA Change: N524D
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: N524D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108934 Gene: ENSMUSG00000062590 AA Change: N524D
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: N524D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117267 Gene: ENSMUSG00000062590 AA Change: N524D
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 |
possibly damaging
Transcript: ENSMUST00000150059
AA Change: N96D
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116908 Gene: ENSMUSG00000062590 AA Change: N96D
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
AA Change: N4D
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000119749 Gene: ENSMUSG00000062590 AA Change: N4D
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
6 |
100 |
3e-3 |
SMART |
|
Meta Mutation Damage Score |
0.7514 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001F09Rik |
A |
T |
14: 43,202,950 (GRCm39) |
|
probably null |
Het |
Abca8a |
T |
A |
11: 109,933,814 (GRCm39) |
Y1197F |
possibly damaging |
Het |
Abcc2 |
T |
C |
19: 43,786,955 (GRCm39) |
|
probably null |
Het |
Adamts16 |
A |
T |
13: 70,886,948 (GRCm39) |
C979S |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,921,019 (GRCm39) |
D523E |
unknown |
Het |
Ankfy1 |
T |
A |
11: 72,651,122 (GRCm39) |
I1024N |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,700,315 (GRCm39) |
S379G |
probably null |
Het |
Arhgap40 |
T |
C |
2: 158,389,710 (GRCm39) |
S625P |
probably benign |
Het |
Armc12 |
G |
C |
17: 28,757,740 (GRCm39) |
A291P |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,545,767 (GRCm39) |
T2305K |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,036,079 (GRCm39) |
N277S |
probably benign |
Het |
Czib |
T |
A |
4: 107,747,326 (GRCm39) |
L6Q |
probably damaging |
Het |
Dennd2b |
G |
T |
7: 109,124,827 (GRCm39) |
R1068S |
possibly damaging |
Het |
E130311K13Rik |
A |
T |
3: 63,827,719 (GRCm39) |
V129E |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,772,696 (GRCm39) |
D79G |
possibly damaging |
Het |
Epb41l1 |
A |
G |
2: 156,336,010 (GRCm39) |
E58G |
probably damaging |
Het |
Fam217b |
T |
A |
2: 178,062,702 (GRCm39) |
V222E |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,493,592 (GRCm39) |
Y3913N |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,241,765 (GRCm39) |
|
probably benign |
Het |
Hltf |
A |
T |
3: 20,160,610 (GRCm39) |
D759V |
probably damaging |
Het |
Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
Isg15 |
C |
T |
4: 156,284,396 (GRCm39) |
R44H |
probably benign |
Het |
Itga4 |
C |
T |
2: 79,109,497 (GRCm39) |
T232I |
probably benign |
Het |
Kntc1 |
C |
A |
5: 123,934,167 (GRCm39) |
H1399Q |
probably benign |
Het |
Lig1 |
A |
C |
7: 13,032,995 (GRCm39) |
K499Q |
probably benign |
Het |
Lrrn3 |
C |
A |
12: 41,504,230 (GRCm39) |
C29F |
probably damaging |
Het |
Mtmr10 |
T |
C |
7: 63,950,363 (GRCm39) |
I136T |
possibly damaging |
Het |
Naip1 |
A |
G |
13: 100,562,604 (GRCm39) |
Y854H |
probably benign |
Het |
Or6c201 |
T |
C |
10: 128,969,395 (GRCm39) |
N81D |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,124,193 (GRCm39) |
A659V |
possibly damaging |
Het |
Phf20l1 |
T |
A |
15: 66,487,479 (GRCm39) |
|
probably benign |
Het |
Phgdh |
A |
G |
3: 98,241,865 (GRCm39) |
V83A |
probably damaging |
Het |
Pik3r1 |
A |
T |
13: 101,827,031 (GRCm39) |
M326K |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,802,916 (GRCm39) |
D235G |
possibly damaging |
Het |
Pkhd1l1 |
C |
A |
15: 44,392,660 (GRCm39) |
P1665Q |
probably damaging |
Het |
Ppp1r7 |
A |
G |
1: 93,292,678 (GRCm39) |
T326A |
probably damaging |
Het |
Prr22 |
A |
T |
17: 57,078,072 (GRCm39) |
Y75F |
possibly damaging |
Het |
Ptov1 |
A |
C |
7: 44,514,894 (GRCm39) |
|
probably null |
Het |
Rasal2 |
A |
G |
1: 156,986,266 (GRCm39) |
S766P |
probably damaging |
Het |
Shmt1 |
T |
C |
11: 60,683,802 (GRCm39) |
T337A |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,686,645 (GRCm39) |
I1168N |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,912,777 (GRCm39) |
V1126A |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,066,687 (GRCm39) |
S2304T |
possibly damaging |
Het |
Tiam1 |
C |
A |
16: 89,586,449 (GRCm39) |
R1446M |
probably damaging |
Het |
Tmem87a |
T |
C |
2: 120,200,965 (GRCm39) |
I425V |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,781,765 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,200,581 (GRCm39) |
|
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,304,713 (GRCm39) |
S573P |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,105,254 (GRCm39) |
V191E |
probably damaging |
Het |
Zdhhc3 |
A |
T |
9: 122,912,688 (GRCm39) |
C153* |
probably null |
Het |
Zfp407 |
A |
T |
18: 84,227,147 (GRCm39) |
V2154D |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,471 (GRCm39) |
V2046A |
probably benign |
Het |
Zfr |
T |
A |
15: 12,140,634 (GRCm39) |
I227N |
unknown |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATTGCAGCGTCACACATGGAG -3'
(R):5'- TTGAGGAATCTGCCCTGGAGGAAG -3'
Sequencing Primer
(F):5'- AGGATACCAACTCTCCCCTT -3'
(R):5'- tcttcttcttcttcttcttttctgtg -3'
|
Posted On |
2013-10-16 |