Incidental Mutation 'R7111:Armc9'
| ID |
551487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc9
|
| Ensembl Gene |
ENSMUSG00000062590 |
| Gene Name |
armadillo repeat containing 9 |
| Synonyms |
4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik |
| MMRRC Submission |
045203-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.660)
|
| Stock # |
R7111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
86082502-86206006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86087717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 18
(Y18H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027434]
[ENSMUST00000113309]
[ENSMUST00000131412]
[ENSMUST00000186509]
|
| AlphaFold |
Q9D2I5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027434
AA Change: Y18H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: Y18H
| 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: Y18H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: Y18H
| 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 |
probably damaging
Transcript: ENSMUST00000131412
AA Change: Y18H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: Y18H
| 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 |
probably benign
Transcript: ENSMUST00000135197
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186509
AA Change: Y18H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139539
Gene: ENSMUSG00000062590
AA Change: Y18H
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
7 |
39 |
5.3e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
G |
19: 57,062,309 (GRCm39) |
N384T |
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,706,396 (GRCm39) |
Y843C |
probably damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,182,021 (GRCm39) |
V118E |
probably benign |
Het |
| Arhgef26 |
T |
A |
3: 62,252,689 (GRCm39) |
S414T |
possibly damaging |
Het |
| Bod1l |
A |
G |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,816 (GRCm39) |
E96D |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,611,998 (GRCm39) |
I898V |
probably benign |
Het |
| Cd79b |
T |
C |
11: 106,205,365 (GRCm39) |
I42M |
possibly damaging |
Het |
| Cdca7 |
G |
A |
2: 72,315,575 (GRCm39) |
R346H |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 110,065,638 (GRCm39) |
S176P |
|
Het |
| Cdh23 |
T |
A |
10: 60,222,823 (GRCm39) |
D1200V |
probably damaging |
Het |
| Cdkn1c |
T |
C |
7: 143,014,326 (GRCm39) |
D40G |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,437,917 (GRCm39) |
R1666H |
probably damaging |
Het |
| Cxcl1 |
A |
G |
5: 91,039,182 (GRCm39) |
T5A |
unknown |
Het |
| Dnah2 |
A |
C |
11: 69,337,579 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,803,028 (GRCm39) |
I54M |
probably damaging |
Het |
| Ephb3 |
A |
T |
16: 21,037,577 (GRCm39) |
K500* |
probably null |
Het |
| Fam13c |
T |
A |
10: 70,390,336 (GRCm39) |
H533Q |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,064,682 (GRCm39) |
D4879E |
probably damaging |
Het |
| Grk6 |
G |
T |
13: 55,606,733 (GRCm39) |
W511L |
probably damaging |
Het |
| Hivep3 |
G |
C |
4: 119,952,431 (GRCm39) |
S249T |
possibly damaging |
Het |
| Iqch |
T |
A |
9: 63,419,599 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,037,066 (GRCm39) |
I21V |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,226,554 (GRCm39) |
C1397S |
probably damaging |
Het |
| Krt86 |
A |
T |
15: 101,374,498 (GRCm39) |
Y297F |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,182,519 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
G |
T |
1: 52,748,917 (GRCm39) |
|
probably null |
Het |
| Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,859,817 (GRCm39) |
R268W |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or10p1 |
T |
A |
10: 129,443,829 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or5d36 |
G |
A |
2: 87,901,000 (GRCm39) |
T242I |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,096 (GRCm39) |
I305F |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,370,539 (GRCm39) |
K232E |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,219,359 (GRCm39) |
E278G |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,057,906 (GRCm39) |
D47G |
probably benign |
Het |
| Sema4c |
G |
A |
1: 36,592,160 (GRCm39) |
T229M |
possibly damaging |
Het |
| Serpina3j |
T |
A |
12: 104,283,792 (GRCm39) |
W297R |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,304,614 (GRCm39) |
E193G |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,289 (GRCm39) |
I966V |
probably benign |
Het |
| Siglece |
T |
C |
7: 43,309,327 (GRCm39) |
D77G |
probably damaging |
Het |
| Sqstm1 |
G |
T |
11: 50,093,418 (GRCm39) |
Q327K |
probably benign |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,954,723 (GRCm39) |
E9G |
possibly damaging |
Het |
| Svep1 |
A |
T |
4: 58,118,207 (GRCm39) |
D838E |
possibly damaging |
Het |
| Tacc2 |
G |
A |
7: 130,330,618 (GRCm39) |
A191T |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,113,168 (GRCm39) |
W285R |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Uaca |
C |
T |
9: 60,779,120 (GRCm39) |
T1169I |
probably benign |
Het |
| Umod |
G |
T |
7: 119,076,369 (GRCm39) |
Y132* |
probably null |
Het |
| Vmn2r31 |
A |
G |
7: 7,399,480 (GRCm39) |
F159S |
probably damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,214,605 (GRCm39) |
T196I |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,453,305 (GRCm39) |
W379R |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,219,221 (GRCm39) |
V133D |
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 |
|
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 |
|
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'- GACTTGTTACTTGACAGTTGCATAC -3'
(R):5'- CATCAGAGTCTTCACAGCTGG -3'
Sequencing Primer
(F):5'- GGTCTCCATTGTCACCAGCAATATAG -3'
(R):5'- AGTCTTCACAGCTGGAGCCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation