Incidental Mutation 'IGL02623:Armc8'
| ID |
300973 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
IGL02623
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 99409122 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,853,032 (GRCm39) |
I35F |
probably benign |
Het |
| Acad10 |
A |
G |
5: 121,767,993 (GRCm39) |
V819A |
possibly damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,209,809 (GRCm39) |
N279Y |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,089,379 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,360 (GRCm39) |
D193G |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,595,145 (GRCm39) |
F144S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,154,140 (GRCm39) |
D135V |
possibly damaging |
Het |
| Dnm3 |
T |
A |
1: 162,183,001 (GRCm39) |
T105S |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,763,649 (GRCm39) |
I1228F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,937 (GRCm39) |
D271G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,433 (GRCm39) |
Y2523C |
probably damaging |
Het |
| Fhl4 |
A |
G |
10: 84,934,035 (GRCm39) |
F249L |
probably damaging |
Het |
| Gm17782 |
T |
C |
17: 36,472,958 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,502 (GRCm39) |
Y219H |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,138 (GRCm39) |
L328P |
probably benign |
Het |
| Hspa12a |
T |
A |
19: 58,797,983 (GRCm39) |
Y245F |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,371 (GRCm39) |
Y153C |
probably damaging |
Het |
| Kcnd2 |
A |
T |
6: 21,726,194 (GRCm39) |
R562S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,235,988 (GRCm39) |
S340G |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,662,185 (GRCm39) |
G262W |
probably damaging |
Het |
| Mindy3 |
G |
A |
2: 12,369,294 (GRCm39) |
Q142* |
probably null |
Het |
| Optn |
T |
C |
2: 5,039,833 (GRCm39) |
E318G |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,363 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,148,768 (GRCm39) |
S443P |
probably benign |
Het |
| Parva |
A |
G |
7: 112,175,646 (GRCm39) |
D259G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,448,269 (GRCm39) |
L3816Q |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,880,737 (GRCm39) |
F967S |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,425,334 (GRCm39) |
N817S |
probably damaging |
Het |
| Ptprt |
C |
A |
2: 161,449,372 (GRCm39) |
|
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,236 (GRCm39) |
S154C |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,640,122 (GRCm39) |
I169V |
probably damaging |
Het |
| Smyd4 |
G |
T |
11: 75,280,890 (GRCm39) |
|
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,045,607 (GRCm39) |
Y326H |
probably benign |
Het |
| Tmem198b |
A |
G |
10: 128,638,320 (GRCm39) |
L81P |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,227 (GRCm39) |
C1115* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,387,141 (GRCm39) |
S1349P |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,376,395 (GRCm39) |
|
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,793 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,012,986 (GRCm39) |
C503S |
probably damaging |
Het |
| Zfyve19 |
G |
A |
2: 119,042,496 (GRCm39) |
|
probably null |
Het |
| Zxdc |
G |
T |
6: 90,359,352 (GRCm39) |
K661N |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation