Incidental Mutation 'R0321:Armc8'
| ID |
35867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
038531-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.729)
|
| Stock # |
R0321 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99415230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 150
(I150K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
[ENSMUST00000185524]
[ENSMUST00000186049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035043
AA Change: I150K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: I150K
| 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 damaging
Transcript: ENSMUST00000185524
AA Change: I150K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139973
Gene: ENSMUSG00000032468
AA Change: I150K
| 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 |
possibly damaging
Transcript: ENSMUST00000186049
AA Change: I108K
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140426
Gene: ENSMUSG00000032468
AA Change: I108K
| 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 |
|
| Meta Mutation Damage Score |
0.3739 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
| Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
| Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,855,200 (GRCm39) |
Q647R |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
| Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
| Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
| D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
| Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
| F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
| Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
| Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
| Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,063 (GRCm39) |
I153F |
probably damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,335,697 (GRCm39) |
K1140E |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
| Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
| Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
| Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
| Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
| Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,525,906 (GRCm39) |
F259I |
probably damaging |
Het |
| Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
| Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
| Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
| Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,496,937 (GRCm39) |
F864L |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
| Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
| Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
| Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
G |
A |
11: 35,732,637 (GRCm39) |
Q1024* |
probably null |
Het |
| Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTCAACAATCAGCTCTGTTCC -3'
(R):5'- CATTGCTTGTGTTTAAGTCACCCCG -3'
Sequencing Primer
(F):5'- TCAGCTCTGTTCCATGAGAAGAC -3'
(R):5'- ggagagatggttcagcaattaag -3'
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| Posted On |
2013-05-09 |
Incidental Mutation