Incidental Mutation 'R4865:Armc8'
| ID |
430244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
042475-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R4865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 99408942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
[ENSMUST00000035043]
[ENSMUST00000185524]
[ENSMUST00000185524]
[ENSMUST00000186049]
[ENSMUST00000186049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (86/88) |
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,938,157 (GRCm39) |
V639M |
probably damaging |
Het |
| Adgrf4 |
A |
G |
17: 42,978,156 (GRCm39) |
S396P |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,469 (GRCm39) |
I123N |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,095,567 (GRCm39) |
Y517H |
probably damaging |
Het |
| Aph1c |
A |
C |
9: 66,735,120 (GRCm39) |
I77S |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,066,912 (GRCm39) |
P1020L |
probably damaging |
Het |
| BC024139 |
A |
T |
15: 76,010,266 (GRCm39) |
M80K |
possibly damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cenpn |
A |
G |
8: 117,661,512 (GRCm39) |
I204V |
probably damaging |
Het |
| Ces4a |
A |
T |
8: 105,873,790 (GRCm39) |
M420L |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,755,681 (GRCm39) |
D322E |
probably benign |
Het |
| Clcn6 |
A |
T |
4: 148,104,223 (GRCm39) |
I223N |
probably damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,428 (GRCm39) |
K50E |
possibly damaging |
Het |
| Creg1 |
T |
A |
1: 165,597,432 (GRCm39) |
C135* |
probably null |
Het |
| Cyp4f13 |
C |
T |
17: 33,144,678 (GRCm39) |
R411Q |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,234 (GRCm39) |
F1426L |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,780,917 (GRCm39) |
*1917R |
probably null |
Het |
| Dync1h1 |
T |
G |
12: 110,606,235 (GRCm39) |
L2435R |
possibly damaging |
Het |
| Eif3l |
C |
A |
15: 78,965,849 (GRCm39) |
Y166* |
probably null |
Het |
| Emilin1 |
T |
A |
5: 31,075,128 (GRCm39) |
N456K |
possibly damaging |
Het |
| Fam83f |
C |
T |
15: 80,576,650 (GRCm39) |
R434C |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,786,785 (GRCm39) |
D10G |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,821,295 (GRCm39) |
V5676G |
possibly damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
A |
G |
11: 99,684,064 (GRCm39) |
|
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,183,286 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
A |
G |
6: 136,464,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Grp |
A |
T |
18: 66,013,041 (GRCm39) |
D69V |
probably damaging |
Het |
| Gucy1a1 |
G |
T |
3: 82,026,469 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,357,980 (GRCm39) |
L376Q |
probably damaging |
Het |
| Ifne |
A |
T |
4: 88,797,942 (GRCm39) |
Y159N |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,645,288 (GRCm39) |
V192A |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,640,569 (GRCm39) |
S486P |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,222,912 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,327,096 (GRCm39) |
E4800D |
probably damaging |
Het |
| Mblac2 |
C |
T |
13: 81,860,095 (GRCm39) |
Q150* |
probably null |
Het |
| Mc1r |
A |
T |
8: 124,134,255 (GRCm39) |
T3S |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,176,668 (GRCm39) |
Q70* |
probably null |
Het |
| Myocd |
A |
T |
11: 65,069,856 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,909,169 (GRCm39) |
L793P |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,876,370 (GRCm39) |
T281A |
probably damaging |
Het |
| Or2m13 |
A |
T |
16: 19,226,051 (GRCm39) |
F238L |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,270,003 (GRCm39) |
T207P |
possibly damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,944 (GRCm39) |
D184G |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,060 (GRCm39) |
M88K |
probably damaging |
Het |
| Or8c13 |
T |
A |
9: 38,091,196 (GRCm39) |
T308S |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,213,660 (GRCm39) |
L1745Q |
probably damaging |
Het |
| Prdm10 |
T |
A |
9: 31,258,376 (GRCm39) |
H600Q |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,211 (GRCm39) |
L268M |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,346,039 (GRCm39) |
I219V |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,400,553 (GRCm39) |
R113* |
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,100,358 (GRCm39) |
I243N |
probably damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,517 (GRCm39) |
T183I |
probably damaging |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,554 (GRCm39) |
M373T |
probably benign |
Het |
| Ros1 |
G |
T |
10: 52,048,966 (GRCm39) |
A88E |
probably damaging |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,834 (GRCm39) |
F251L |
probably benign |
Het |
| Skil |
A |
G |
3: 31,167,562 (GRCm39) |
Y398C |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,683,419 (GRCm39) |
M148K |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Sntn |
A |
T |
14: 13,679,103 (GRCm38) |
K92N |
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,722,876 (GRCm39) |
S296T |
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,796 (GRCm39) |
F261S |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,679,364 (GRCm39) |
|
probably null |
Het |
| Stk24 |
A |
T |
14: 121,530,866 (GRCm39) |
C363* |
probably null |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,070,262 (GRCm39) |
N387S |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,673,885 (GRCm39) |
I304L |
probably benign |
Het |
| Trim13 |
A |
G |
14: 61,842,966 (GRCm39) |
I328V |
probably benign |
Het |
| Upk2 |
A |
G |
9: 44,365,382 (GRCm39) |
V62A |
probably damaging |
Het |
| Urb2 |
A |
T |
8: 124,756,374 (GRCm39) |
K694* |
probably null |
Het |
| Vmn2r17 |
C |
A |
5: 109,574,985 (GRCm39) |
N97K |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,892 (GRCm39) |
V619D |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,387,634 (GRCm39) |
R213Q |
probably benign |
Het |
| Wnt6 |
G |
A |
1: 74,821,788 (GRCm39) |
C123Y |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
probably damaging |
Het |
| Zfp52 |
C |
T |
17: 21,781,505 (GRCm39) |
S451L |
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 |
|
|
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 |
|
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'- AACAGTTTTATGACAGCCTTGTTCC -3'
(R):5'- TCCCCAAGTATCGATGACCC -3'
Sequencing Primer
(F):5'- ATGACAGCCTTGTTCCTTATACCAAG -3'
(R):5'- GGAACTTTCCGTGACACCTATGG -3'
|
| Posted On |
2016-09-28 |
Incidental Mutation