Incidental Mutation 'IGL02215:Armc8'
ID |
284857 |
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 # |
IGL02215
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99366031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 628
(N628D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035043
AA Change: N628D
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035043 Gene: ENSMUSG00000032468 AA Change: N628D
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 |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
Astn2 |
T |
A |
4: 66,184,471 (GRCm39) |
I209F |
unknown |
Het |
Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
Itgbl1 |
A |
C |
14: 124,209,553 (GRCm39) |
I311L |
probably benign |
Het |
Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,628,822 (GRCm39) |
D731E |
possibly damaging |
Het |
Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
Smg5 |
T |
C |
3: 88,260,305 (GRCm39) |
S632P |
possibly damaging |
Het |
Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,929,478 (GRCm39) |
I1132F |
probably damaging |
Het |
Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |