Incidental Mutation 'R7937:Armc8'
| ID |
648815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
045983-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.729)
|
| Stock # |
R7937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99418272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 94
(T94I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(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: T94I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: T94I
| 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: T94I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139973
Gene: ENSMUSG00000032468
AA Change: T94I
| 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 damaging
Transcript: ENSMUST00000186049
AA Change: T52I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140426
Gene: ENSMUSG00000032468
AA Change: T52I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,870,470 (GRCm39) |
T875K |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,977,624 (GRCm39) |
R2685* |
probably null |
Het |
| Bri3bp |
A |
T |
5: 125,531,395 (GRCm39) |
N114Y |
probably damaging |
Het |
| Camkk2 |
G |
T |
5: 122,902,097 (GRCm39) |
Q71K |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,765,736 (GRCm39) |
F49S |
|
Het |
| Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,464,963 (GRCm39) |
F633L |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,307,974 (GRCm39) |
W32R |
possibly damaging |
Het |
| Cntn5 |
G |
A |
9: 9,748,450 (GRCm39) |
T477I |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,202 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,408,511 (GRCm39) |
L53* |
probably null |
Het |
| Dnajc11 |
A |
G |
4: 152,034,909 (GRCm39) |
D44G |
probably damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,168 (GRCm39) |
F248S |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,517,123 (GRCm39) |
L422P |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fgd4 |
A |
G |
16: 16,287,637 (GRCm39) |
Y355H |
probably damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,820,823 (GRCm39) |
M237T |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,230,177 (GRCm39) |
K203N |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,484,723 (GRCm39) |
D594G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,679 (GRCm39) |
H493L |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,310,308 (GRCm39) |
V418L |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,766,670 (GRCm39) |
N376S |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,278,243 (GRCm39) |
Q3010R |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,318,067 (GRCm39) |
F223I |
possibly damaging |
Het |
| Marchf11 |
A |
G |
15: 26,409,323 (GRCm39) |
T341A |
probably damaging |
Het |
| Mllt10 |
A |
G |
2: 18,210,895 (GRCm39) |
K770E |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,838,128 (GRCm39) |
T453A |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,976,009 (GRCm39) |
T1359I |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,958,080 (GRCm39) |
K3E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,163,571 (GRCm39) |
F913L |
probably benign |
Het |
| Nlrx1 |
G |
T |
9: 44,176,086 (GRCm39) |
A48D |
probably damaging |
Het |
| Noc3l |
C |
G |
19: 38,783,447 (GRCm39) |
G643A |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,875 (GRCm39) |
R309G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,344 (GRCm39) |
N170K |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,567,639 (GRCm39) |
|
probably null |
Het |
| Phactr1 |
A |
G |
13: 43,231,205 (GRCm39) |
I247V |
unknown |
Het |
| Pid1 |
G |
T |
1: 84,093,745 (GRCm39) |
Q48K |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,699,233 (GRCm39) |
N794S |
probably benign |
Het |
| Ppox |
G |
A |
1: 171,107,546 (GRCm39) |
S123L |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,013,772 (GRCm39) |
D778E |
probably benign |
Het |
| Rgs13 |
A |
G |
1: 144,016,600 (GRCm39) |
Y48H |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,078 (GRCm39) |
M190L |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,247,482 (GRCm39) |
P935L |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,601,253 (GRCm39) |
I435T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,996,648 (GRCm39) |
H51R |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,112,199 (GRCm39) |
L378P |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,973,226 (GRCm39) |
L155P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,581,320 (GRCm39) |
T141A |
possibly damaging |
Het |
| Syt10 |
A |
T |
15: 89,666,820 (GRCm39) |
S510R |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,457,349 (GRCm39) |
F241L |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,816 (GRCm39) |
T143S |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,491 (GRCm39) |
N431S |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,746,615 (GRCm39) |
S1031P |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,858,799 (GRCm39) |
Y656C |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,396,785 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,821,866 (GRCm39) |
R399Q |
possibly damaging |
Het |
| Zfp949 |
T |
A |
9: 88,451,323 (GRCm39) |
C298S |
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 |
|
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 |
|
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'- GTCCTAGTAAGATAAACTGCATGTG -3'
(R):5'- GGCTGTATTTCCCACACTGC -3'
Sequencing Primer
(F):5'- TCACTCTGTAGACCAAGCTGG -3'
(R):5'- CCTCAAGTACAGAGCTGAA -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation