Incidental Mutation 'R0658:Armc8'
ID |
62617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc8
|
Ensembl Gene |
ENSMUSG00000032468 |
Gene Name |
armadillo repeat containing 8 |
Synonyms |
1200015K23Rik, Gid5, HSPC056 |
MMRRC Submission |
038843-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.683)
|
Stock # |
R0658 (G1)
|
Quality Score |
115 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 99418211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
[ENSMUST00000185524]
[ENSMUST00000186049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035043
|
SMART Domains |
Protein: ENSMUSP00000035043 Gene: ENSMUSG00000032468
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185524
|
SMART Domains |
Protein: ENSMUSP00000139973 Gene: ENSMUSG00000032468
Domain | Start | End | E-Value | Type |
ARM
|
50 |
92 |
1.75e0 |
SMART |
ARM
|
94 |
134 |
5.34e0 |
SMART |
Blast:ARM
|
138 |
176 |
1e-5 |
BLAST |
ARM
|
177 |
217 |
2.04e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186049
|
SMART Domains |
Protein: ENSMUSP00000140426 Gene: ENSMUSG00000032468
Domain | Start | End | E-Value | Type |
ARM
|
8 |
50 |
8.5e-3 |
SMART |
ARM
|
52 |
92 |
2.6e-2 |
SMART |
Blast:ARM
|
96 |
134 |
7e-6 |
BLAST |
ARM
|
135 |
175 |
9.8e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
99% (78/79) |
Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
C |
T |
5: 100,965,827 (GRCm39) |
|
probably null |
Het |
Acsl3 |
A |
G |
1: 78,679,004 (GRCm39) |
D520G |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,796,560 (GRCm39) |
V623A |
probably benign |
Het |
Ak9 |
G |
T |
10: 41,223,218 (GRCm39) |
V454L |
probably damaging |
Het |
Alpk2 |
C |
A |
18: 65,482,558 (GRCm39) |
K483N |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,893,281 (GRCm39) |
Y974C |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,595,696 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
C |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
Caps2 |
T |
A |
10: 112,039,943 (GRCm39) |
|
probably benign |
Het |
Cep76 |
A |
G |
18: 67,756,374 (GRCm39) |
S486P |
probably damaging |
Het |
Cep97 |
C |
T |
16: 55,735,265 (GRCm39) |
R583H |
probably benign |
Het |
Cog7 |
A |
G |
7: 121,555,363 (GRCm39) |
|
probably benign |
Het |
Commd5 |
T |
A |
15: 76,784,768 (GRCm39) |
V55E |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,874,543 (GRCm39) |
D684E |
possibly damaging |
Het |
Ctxn2 |
T |
C |
2: 124,989,376 (GRCm39) |
M1T |
probably null |
Het |
Exph5 |
A |
G |
9: 53,288,775 (GRCm39) |
D1952G |
unknown |
Het |
Fmo2 |
A |
T |
1: 162,704,343 (GRCm39) |
L521Q |
possibly damaging |
Het |
Fryl |
T |
A |
5: 73,222,702 (GRCm39) |
T1960S |
probably damaging |
Het |
G6pd2 |
T |
C |
5: 61,967,017 (GRCm39) |
L264P |
probably damaging |
Het |
Gne |
A |
T |
4: 44,039,033 (GRCm39) |
V647E |
possibly damaging |
Het |
Grb14 |
G |
A |
2: 64,745,071 (GRCm39) |
Q96* |
probably null |
Het |
Gtf3c1 |
A |
G |
7: 125,298,134 (GRCm39) |
F146L |
probably damaging |
Het |
Gvin3 |
C |
A |
7: 106,202,093 (GRCm39) |
V384L |
possibly damaging |
Het |
Irak2 |
A |
G |
6: 113,615,525 (GRCm39) |
Y6C |
probably damaging |
Het |
Kel |
T |
A |
6: 41,679,965 (GRCm39) |
N75I |
probably damaging |
Het |
Lgr4 |
T |
A |
2: 109,842,132 (GRCm39) |
F706I |
possibly damaging |
Het |
Lox |
A |
T |
18: 52,661,955 (GRCm39) |
S149R |
probably benign |
Het |
Lrrc66 |
T |
G |
5: 73,768,287 (GRCm39) |
D218A |
probably benign |
Het |
Luc7l |
C |
T |
17: 26,485,296 (GRCm39) |
R99W |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,385,968 (GRCm39) |
V327A |
probably benign |
Het |
Mthfd1l |
G |
T |
10: 3,997,976 (GRCm39) |
|
probably null |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,358 (GRCm39) |
|
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,424 (GRCm39) |
D270V |
possibly damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pgf |
C |
T |
12: 85,216,159 (GRCm39) |
R153K |
probably benign |
Het |
Pramel12 |
A |
T |
4: 143,144,170 (GRCm39) |
Q172L |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,861,835 (GRCm39) |
V485A |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,473,028 (GRCm39) |
T705A |
probably damaging |
Het |
Rflna |
A |
C |
5: 125,080,774 (GRCm39) |
D48A |
possibly damaging |
Het |
Rnf148 |
A |
T |
6: 23,654,456 (GRCm39) |
I180N |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,656,475 (GRCm39) |
S94T |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,640,226 (GRCm39) |
T223I |
probably benign |
Het |
Scube2 |
T |
A |
7: 109,436,327 (GRCm39) |
|
probably benign |
Het |
Septin14 |
T |
C |
5: 129,774,972 (GRCm39) |
I68V |
probably benign |
Het |
Sil1 |
A |
T |
18: 35,399,910 (GRCm39) |
L365Q |
possibly damaging |
Het |
Sirt1 |
A |
G |
10: 63,157,515 (GRCm39) |
|
probably benign |
Het |
Slc9a1 |
T |
C |
4: 133,147,810 (GRCm39) |
|
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,687,336 (GRCm39) |
T355A |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,141,110 (GRCm39) |
I6074T |
probably damaging |
Het |
Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,766,283 (GRCm39) |
S450P |
probably benign |
Het |
Tshr |
C |
A |
12: 91,505,000 (GRCm39) |
S54* |
probably null |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Uncx |
G |
T |
5: 139,529,942 (GRCm39) |
C65F |
probably damaging |
Het |
Vmn1r87 |
A |
T |
7: 12,865,756 (GRCm39) |
M177K |
probably damaging |
Het |
Vmn2r56 |
A |
T |
7: 12,444,235 (GRCm39) |
C466S |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,925,466 (GRCm39) |
P1831S |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,901 (GRCm39) |
S476G |
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 |
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 |
R4440:Armc8
|
UTSW |
9 |
99,366,087 (GRCm39) |
missense |
probably benign |
0.37 |
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'- CGGAGGCAAGCTTCAATGAACTTCAG -3'
(R):5'- TGGGCTGTATTTCCCACACTGC -3'
Sequencing Primer
(F):5'- gagactgtttttctgtgtagcc -3'
(R):5'- TCTTGCGATGGGCACAGAA -3'
|
Posted On |
2013-07-30 |