Incidental Mutation 'R4440:Armc8'
ID |
329728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc8
|
Ensembl Gene |
ENSMUSG00000032468 |
Gene Name |
armadillo repeat containing 8 |
Synonyms |
1200015K23Rik, Gid5, HSPC056 |
MMRRC Submission |
041705-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.729)
|
Stock # |
R4440 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 99366087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 609
(H609L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035043
AA Change: H609L
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000035043 Gene: ENSMUSG00000032468 AA Change: H609L
Domain | Start | End | E-Value | Type |
ARM
|
50 |
92 |
1.75e0 |
SMART |
ARM
|
94 |
134 |
5.34e0 |
SMART |
ARM
|
177 |
217 |
2.04e1 |
SMART |
ARM
|
372 |
413 |
3.58e1 |
SMART |
Blast:ARM
|
414 |
455 |
7e-17 |
BLAST |
ARM
|
457 |
497 |
3.81e-1 |
SMART |
ARM
|
500 |
540 |
5.43e1 |
SMART |
Blast:ARM
|
542 |
585 |
1e-20 |
BLAST |
Blast:ARM
|
633 |
673 |
1e-16 |
BLAST |
|
Meta Mutation Damage Score |
0.2304 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
94% (46/49) |
Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
Other mutations in Armc8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00232:Armc8
|
APN |
9 |
99,387,787 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL00951:Armc8
|
APN |
9 |
99,387,757 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01776:Armc8
|
APN |
9 |
99,408,936 (GRCm39) |
splice site |
probably benign |
|
IGL02215:Armc8
|
APN |
9 |
99,366,031 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02244:Armc8
|
APN |
9 |
99,365,227 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02610:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02612:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02615:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02619:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02621:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02622:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02623:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
IGL02624:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
Scrambler
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
warthog
|
UTSW |
9 |
99,402,538 (GRCm39) |
missense |
probably benign |
0.02 |
D4043:Armc8
|
UTSW |
9 |
99,366,029 (GRCm39) |
missense |
probably benign |
0.13 |
R0321:Armc8
|
UTSW |
9 |
99,415,230 (GRCm39) |
missense |
probably damaging |
0.99 |
R0498:Armc8
|
UTSW |
9 |
99,379,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R0646:Armc8
|
UTSW |
9 |
99,387,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R0658:Armc8
|
UTSW |
9 |
99,418,211 (GRCm39) |
splice site |
probably benign |
|
R1061:Armc8
|
UTSW |
9 |
99,419,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1406:Armc8
|
UTSW |
9 |
99,405,301 (GRCm39) |
missense |
probably benign |
0.37 |
R1406:Armc8
|
UTSW |
9 |
99,405,301 (GRCm39) |
missense |
probably benign |
0.37 |
R1429:Armc8
|
UTSW |
9 |
99,418,260 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1432:Armc8
|
UTSW |
9 |
99,405,185 (GRCm39) |
splice site |
probably benign |
|
R1538:Armc8
|
UTSW |
9 |
99,387,343 (GRCm39) |
missense |
probably damaging |
0.96 |
R1606:Armc8
|
UTSW |
9 |
99,419,782 (GRCm39) |
missense |
probably damaging |
0.98 |
R1817:Armc8
|
UTSW |
9 |
99,418,312 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1866:Armc8
|
UTSW |
9 |
99,418,333 (GRCm39) |
missense |
probably benign |
|
R2015:Armc8
|
UTSW |
9 |
99,365,158 (GRCm39) |
nonsense |
probably null |
|
R2143:Armc8
|
UTSW |
9 |
99,387,361 (GRCm39) |
missense |
probably damaging |
0.99 |
R2251:Armc8
|
UTSW |
9 |
99,384,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2842:Armc8
|
UTSW |
9 |
99,387,734 (GRCm39) |
missense |
probably benign |
|
R3010:Armc8
|
UTSW |
9 |
99,369,966 (GRCm39) |
missense |
probably benign |
0.06 |
R3709:Armc8
|
UTSW |
9 |
99,402,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Armc8
|
UTSW |
9 |
99,408,942 (GRCm39) |
critical splice donor site |
probably null |
|
R5492:Armc8
|
UTSW |
9 |
99,409,184 (GRCm39) |
nonsense |
probably null |
|
R5606:Armc8
|
UTSW |
9 |
99,418,315 (GRCm39) |
missense |
probably benign |
0.23 |
R5639:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
R5693:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
R5694:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
R5698:Armc8
|
UTSW |
9 |
99,417,873 (GRCm39) |
missense |
probably benign |
0.12 |
R5700:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
R5701:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
R5735:Armc8
|
UTSW |
9 |
99,379,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6314:Armc8
|
UTSW |
9 |
99,417,937 (GRCm39) |
missense |
probably benign |
0.28 |
R7034:Armc8
|
UTSW |
9 |
99,366,018 (GRCm39) |
critical splice donor site |
probably null |
|
R7036:Armc8
|
UTSW |
9 |
99,366,018 (GRCm39) |
critical splice donor site |
probably null |
|
R7393:Armc8
|
UTSW |
9 |
99,366,052 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7395:Armc8
|
UTSW |
9 |
99,415,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R7937:Armc8
|
UTSW |
9 |
99,418,272 (GRCm39) |
missense |
probably damaging |
0.98 |
R8130:Armc8
|
UTSW |
9 |
99,433,600 (GRCm39) |
missense |
probably benign |
0.02 |
R8373:Armc8
|
UTSW |
9 |
99,409,152 (GRCm39) |
missense |
probably benign |
0.02 |
R8734:Armc8
|
UTSW |
9 |
99,402,538 (GRCm39) |
missense |
probably benign |
0.02 |
R9098:Armc8
|
UTSW |
9 |
99,387,362 (GRCm39) |
nonsense |
probably null |
|
R9255:Armc8
|
UTSW |
9 |
99,379,441 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9358:Armc8
|
UTSW |
9 |
99,450,653 (GRCm39) |
critical splice donor site |
probably null |
|
R9463:Armc8
|
UTSW |
9 |
99,378,203 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Armc8
|
UTSW |
9 |
99,379,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAGACTGATTCTCACAGCAAG -3'
(R):5'- CCGATTGCTGTTACCCTGAC -3'
Sequencing Primer
(F):5'- CTGATTCTCACAGCAAGATAGCTCTG -3'
(R):5'- GATTGCTGTTACCCTGACCTTTAC -3'
|
Posted On |
2015-07-21 |