Incidental Mutation 'R3010:Armc8'
ID |
257478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc8
|
Ensembl Gene |
ENSMUSG00000032468 |
Gene Name |
armadillo repeat containing 8 |
Synonyms |
1200015K23Rik, HSPC056, Gid5 |
Accession Numbers |
Genbank: NM_028768; MGI: 1921375 |
Essential gene? |
Possibly essential
(E-score: 0.685)
|
Stock # |
R3010 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
99478372-99568899 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99487913 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 591
(E591G)
|
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: E591G
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000035043 Gene: ENSMUSG00000032468 AA Change: E591G
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cers5 |
A |
G |
15: 99,772,717 |
|
probably benign |
Het |
Cgrrf1 |
T |
C |
14: 46,853,766 |
V249A |
probably benign |
Het |
Kctd1 |
T |
C |
18: 14,974,086 |
E178G |
probably damaging |
Het |
Mpp7 |
G |
A |
18: 7,461,678 |
P65L |
possibly damaging |
Het |
Mx2 |
T |
C |
16: 97,546,799 |
V208A |
possibly damaging |
Het |
Pacs2 |
T |
C |
12: 113,061,080 |
S427P |
probably benign |
Het |
Pdzrn4 |
A |
G |
15: 92,769,811 |
I615V |
probably benign |
Het |
Ptpn1 |
C |
A |
2: 167,974,822 |
Q266K |
probably damaging |
Het |
Snx18 |
G |
A |
13: 113,616,886 |
Q504* |
probably null |
Het |
Sppl2c |
C |
T |
11: 104,187,315 |
P314S |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,253,893 |
|
probably benign |
Het |
Tdrd6 |
G |
A |
17: 43,628,042 |
T705I |
probably benign |
Het |
Tex11 |
C |
A |
X: 100,933,415 |
A487S |
possibly damaging |
Het |
Vmn2r113 |
T |
C |
17: 22,958,131 |
S630P |
probably damaging |
Het |
Zdbf2 |
T |
A |
1: 63,303,065 |
V201D |
possibly damaging |
Het |
Zer1 |
A |
G |
2: 30,113,285 |
I40T |
probably benign |
Het |
|
Other mutations in Armc8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00232:Armc8
|
APN |
9 |
99505734 |
critical splice acceptor site |
probably null |
|
IGL00951:Armc8
|
APN |
9 |
99505704 |
missense |
probably benign |
0.00 |
IGL01776:Armc8
|
APN |
9 |
99526883 |
splice site |
probably benign |
|
IGL02215:Armc8
|
APN |
9 |
99483978 |
missense |
possibly damaging |
0.92 |
IGL02244:Armc8
|
APN |
9 |
99483174 |
missense |
probably benign |
0.10 |
IGL02610:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02612:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02615:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02619:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02621:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02622:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02623:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
IGL02624:Armc8
|
APN |
9 |
99527069 |
splice site |
probably benign |
|
Scrambler
|
UTSW |
9 |
99496149 |
critical splice donor site |
probably null |
|
warthog
|
UTSW |
9 |
99520485 |
missense |
probably benign |
0.02 |
D4043:Armc8
|
UTSW |
9 |
99483976 |
missense |
probably benign |
0.13 |
R0321:Armc8
|
UTSW |
9 |
99533177 |
missense |
probably damaging |
0.99 |
R0498:Armc8
|
UTSW |
9 |
99497292 |
missense |
probably damaging |
1.00 |
R0646:Armc8
|
UTSW |
9 |
99505688 |
missense |
probably damaging |
1.00 |
R0658:Armc8
|
UTSW |
9 |
99536158 |
splice site |
probably benign |
|
R1061:Armc8
|
UTSW |
9 |
99537731 |
missense |
probably damaging |
1.00 |
R1406:Armc8
|
UTSW |
9 |
99523248 |
missense |
probably benign |
0.37 |
R1406:Armc8
|
UTSW |
9 |
99523248 |
missense |
probably benign |
0.37 |
R1429:Armc8
|
UTSW |
9 |
99536207 |
missense |
possibly damaging |
0.67 |
R1432:Armc8
|
UTSW |
9 |
99523132 |
splice site |
probably benign |
|
R1538:Armc8
|
UTSW |
9 |
99505290 |
missense |
probably damaging |
0.96 |
R1606:Armc8
|
UTSW |
9 |
99537729 |
missense |
probably damaging |
0.98 |
R1817:Armc8
|
UTSW |
9 |
99536259 |
missense |
possibly damaging |
0.67 |
R1866:Armc8
|
UTSW |
9 |
99536280 |
missense |
probably benign |
|
R2015:Armc8
|
UTSW |
9 |
99483105 |
nonsense |
probably null |
|
R2143:Armc8
|
UTSW |
9 |
99505308 |
missense |
probably damaging |
0.99 |
R2251:Armc8
|
UTSW |
9 |
99502600 |
critical splice acceptor site |
probably null |
|
R2842:Armc8
|
UTSW |
9 |
99505681 |
missense |
probably benign |
|
R3709:Armc8
|
UTSW |
9 |
99520497 |
missense |
probably damaging |
1.00 |
R4440:Armc8
|
UTSW |
9 |
99484034 |
missense |
probably benign |
0.37 |
R4865:Armc8
|
UTSW |
9 |
99526889 |
critical splice donor site |
probably null |
|
R5492:Armc8
|
UTSW |
9 |
99527131 |
nonsense |
probably null |
|
R5606:Armc8
|
UTSW |
9 |
99536262 |
missense |
probably benign |
0.23 |
R5639:Armc8
|
UTSW |
9 |
99496149 |
critical splice donor site |
probably null |
|
R5693:Armc8
|
UTSW |
9 |
99496149 |
critical splice donor site |
probably null |
|
R5694:Armc8
|
UTSW |
9 |
99496149 |
critical splice donor site |
probably null |
|
R5698:Armc8
|
UTSW |
9 |
99535820 |
missense |
probably benign |
0.12 |
R5700:Armc8
|
UTSW |
9 |
99496149 |
critical splice donor site |
probably null |
|
R5701:Armc8
|
UTSW |
9 |
99496149 |
critical splice donor site |
probably null |
|
R5735:Armc8
|
UTSW |
9 |
99497394 |
critical splice acceptor site |
probably null |
|
R6314:Armc8
|
UTSW |
9 |
99535884 |
missense |
probably benign |
0.28 |
R7034:Armc8
|
UTSW |
9 |
99483965 |
critical splice donor site |
probably null |
|
R7036:Armc8
|
UTSW |
9 |
99483965 |
critical splice donor site |
probably null |
|
R7393:Armc8
|
UTSW |
9 |
99483999 |
missense |
possibly damaging |
0.47 |
R7395:Armc8
|
UTSW |
9 |
99533132 |
missense |
probably damaging |
0.99 |
R7937:Armc8
|
UTSW |
9 |
99536219 |
missense |
probably damaging |
0.98 |
R8130:Armc8
|
UTSW |
9 |
99551547 |
missense |
probably benign |
0.02 |
R8373:Armc8
|
UTSW |
9 |
99527099 |
missense |
probably benign |
0.02 |
R8734:Armc8
|
UTSW |
9 |
99520485 |
missense |
probably benign |
0.02 |
R9098:Armc8
|
UTSW |
9 |
99505309 |
nonsense |
probably null |
|
R9255:Armc8
|
UTSW |
9 |
99497388 |
missense |
possibly damaging |
0.95 |
R9358:Armc8
|
UTSW |
9 |
99568600 |
critical splice donor site |
probably null |
|
R9463:Armc8
|
UTSW |
9 |
99496150 |
critical splice donor site |
probably null |
|
Z1177:Armc8
|
UTSW |
9 |
99497386 |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGGGCTTGCTTTCTAC -3'
(R):5'- TCCGGTTTCCATCATCTGGG -3'
Sequencing Primer
(F):5'- GGGCTTGCTTTCTACTTTAGTATAC -3'
(R):5'- GGGTATCATATCCCCTGGAACTG -3'
|
Posted On |
2015-01-11 |