Incidental Mutation 'R1687:Armc9'
| ID |
189391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc9
|
| Ensembl Gene |
ENSMUSG00000062590 |
| Gene Name |
armadillo repeat containing 9 |
| Synonyms |
4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik |
| MMRRC Submission |
039720-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.535)
|
| Stock # |
R1687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 86084677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000131412]
[ENSMUST00000186509]
|
| AlphaFold |
Q9D2I5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027434
AA Change: M1V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: M1V
| 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
AA Change: M1V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: M1V
| 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
AA Change: M1V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: M1V
| 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: ENSMUST00000134858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135973
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186509
AA Change: M1V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139539
Gene: ENSMUSG00000062590
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
7 |
39 |
5.3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153653
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,184,714 (GRCm39) |
F931I |
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,240,744 (GRCm39) |
H212L |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,035,538 (GRCm39) |
V268D |
probably benign |
Het |
| Brca1 |
C |
T |
11: 101,380,666 (GRCm39) |
C1789Y |
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,627,585 (GRCm39) |
V138A |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,829,627 (GRCm39) |
F699S |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,535,118 (GRCm39) |
R67G |
probably damaging |
Het |
| Cdk16 |
G |
A |
X: 20,562,898 (GRCm39) |
|
probably null |
Het |
| Cep85 |
T |
C |
4: 133,875,324 (GRCm39) |
H546R |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,768,502 (GRCm39) |
D207G |
probably damaging |
Het |
| Cldn9 |
G |
T |
17: 23,902,050 (GRCm39) |
R192S |
probably benign |
Het |
| Crybb3 |
A |
G |
5: 113,227,633 (GRCm39) |
S63P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,341,523 (GRCm39) |
L615P |
probably damaging |
Het |
| Dctn3 |
A |
G |
4: 41,715,407 (GRCm39) |
Y154H |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,009 (GRCm39) |
|
probably null |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,488 (GRCm39) |
D133G |
unknown |
Het |
| Eml6 |
G |
A |
11: 29,783,187 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,594,300 (GRCm39) |
V610A |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,434,282 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,307 (GRCm39) |
V154I |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,561,373 (GRCm39) |
W1045R |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,933,838 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,274,333 (GRCm39) |
N13I |
probably damaging |
Het |
| Gpr20 |
C |
A |
15: 73,567,751 (GRCm39) |
V213L |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,065,221 (GRCm39) |
I295T |
probably damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,945,349 (GRCm39) |
F430L |
probably damaging |
Het |
| Gzmk |
T |
A |
13: 113,310,462 (GRCm39) |
I119L |
probably benign |
Het |
| Hadh |
T |
C |
3: 131,038,898 (GRCm39) |
I153V |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,676,012 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,665,836 (GRCm39) |
I560T |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,038,945 (GRCm39) |
V863A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,508,620 (GRCm39) |
D216G |
probably benign |
Het |
| Klc2 |
G |
A |
19: 5,161,682 (GRCm39) |
P303S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,835,859 (GRCm39) |
V1192I |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,862,029 (GRCm39) |
S772P |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,909,935 (GRCm39) |
L96Q |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,929 (GRCm39) |
I726T |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,407 (GRCm39) |
T229S |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,095,658 (GRCm39) |
|
probably null |
Het |
| Nrap |
C |
T |
19: 56,343,961 (GRCm39) |
E729K |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,716 (GRCm39) |
F387I |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,886,226 (GRCm39) |
T452M |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,450 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,529,087 (GRCm39) |
Y72N |
probably damaging |
Het |
| Pglyrp1 |
A |
T |
7: 18,618,629 (GRCm39) |
|
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,086,573 (GRCm39) |
|
probably null |
Het |
| Ppard |
A |
G |
17: 28,516,154 (GRCm39) |
Y126C |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,295,344 (GRCm39) |
Y598H |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,109 (GRCm39) |
T287A |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,869,010 (GRCm39) |
Y361H |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,983 (GRCm39) |
I640N |
probably damaging |
Het |
| Smurf2 |
C |
A |
11: 106,726,896 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
C |
11: 78,195,755 (GRCm39) |
V354A |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| St6galnac5 |
C |
A |
3: 152,686,887 (GRCm39) |
L22F |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,284 (GRCm39) |
S86P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,299 (GRCm39) |
I111V |
possibly damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Trim36 |
G |
T |
18: 46,321,724 (GRCm39) |
H108N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,701,251 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,935,317 (GRCm39) |
S89R |
probably benign |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,488 (GRCm39) |
D223G |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,590,026 (GRCm39) |
Y630F |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,233,673 (GRCm39) |
S900T |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,117,481 (GRCm39) |
N731S |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,525,451 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,079,988 (GRCm39) |
D49G |
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 |
|
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'- TGACCTCCCATTGCCCCACA -3'
(R):5'- AGCCCAGACTGACCTGCTGA -3'
Sequencing Primer
(F):5'- TTGCCCCACAGTCACAGG -3'
(R):5'- aggacccacagaggatgac -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation