Incidental Mutation 'R9255:Armc8'
| ID |
701818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
068961-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R9255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99379441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 495
(M495R)
|
| 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: M495R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: M495R
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,626,795 (GRCm39) |
Y549C |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,278,213 (GRCm39) |
N3131T |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,145 (GRCm39) |
V775A |
probably benign |
Het |
| Actn3 |
T |
A |
19: 4,921,820 (GRCm39) |
I149F |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 69,036,199 (GRCm39) |
M154K |
possibly damaging |
Het |
| Agbl1 |
A |
T |
7: 76,416,150 (GRCm39) |
M976L |
unknown |
Het |
| Agbl3 |
T |
A |
6: 34,789,840 (GRCm39) |
M531K |
probably damaging |
Het |
| Astn2 |
T |
A |
4: 65,563,085 (GRCm39) |
K899* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,107,148 (GRCm39) |
H727Q |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,519,401 (GRCm39) |
I564V |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,409,237 (GRCm39) |
H183Q |
probably benign |
Het |
| Celf3 |
T |
C |
3: 94,392,594 (GRCm39) |
F98L |
probably benign |
Het |
| Chrd |
G |
A |
16: 20,558,801 (GRCm39) |
C845Y |
probably damaging |
Het |
| Clec1a |
T |
G |
6: 129,409,208 (GRCm39) |
K139N |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,019,103 (GRCm39) |
N130K |
possibly damaging |
Het |
| Cog1 |
A |
T |
11: 113,547,019 (GRCm39) |
T538S |
probably benign |
Het |
| Cog8 |
A |
G |
8: 107,779,383 (GRCm39) |
I298T |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,164,102 (GRCm39) |
W72R |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,376,864 (GRCm39) |
R453G |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,284,609 (GRCm39) |
N563K |
possibly damaging |
Het |
| Foxn1 |
C |
A |
11: 78,252,399 (GRCm39) |
E330* |
probably null |
Het |
| Fzd7 |
G |
T |
1: 59,522,495 (GRCm39) |
R126L |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,351 (GRCm39) |
Y147H |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,980,186 (GRCm39) |
N83S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,889,173 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,261,972 (GRCm39) |
D2691G |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,756,787 (GRCm39) |
I332N |
unknown |
Het |
| Inpp1 |
A |
G |
1: 52,829,306 (GRCm39) |
S238P |
probably benign |
Het |
| Jmy |
A |
G |
13: 93,589,894 (GRCm39) |
|
probably null |
Het |
| Kcnab3 |
C |
T |
11: 69,222,337 (GRCm39) |
Q327* |
probably null |
Het |
| Kctd1 |
A |
G |
18: 15,194,853 (GRCm39) |
V590A |
probably benign |
Het |
| Lrrc8e |
A |
T |
8: 4,284,504 (GRCm39) |
H243L |
probably damaging |
Het |
| Lsr |
A |
G |
7: 30,657,670 (GRCm39) |
L498S |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,843,556 (GRCm39) |
D268G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,598,287 (GRCm39) |
V203A |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,604,051 (GRCm39) |
I212N |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,737 (GRCm39) |
I46T |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,423 (GRCm39) |
F103S |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,487 (GRCm39) |
Y141C |
probably benign |
Het |
| Pabpc6 |
T |
C |
17: 9,886,769 (GRCm39) |
E594G |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,176,989 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,325,938 (GRCm39) |
I113T |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
C |
3: 94,906,219 (GRCm39) |
S589P |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,496,981 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
A |
T |
8: 106,103,271 (GRCm39) |
M315L |
probably benign |
Het |
| Proz |
G |
A |
8: 13,123,472 (GRCm39) |
V248M |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,438,183 (GRCm39) |
Y37H |
probably damaging |
Het |
| R3hdml |
T |
A |
2: 163,337,612 (GRCm39) |
W89R |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,057,293 (GRCm39) |
T319A |
probably benign |
Het |
| Scn4a |
C |
T |
11: 106,215,054 (GRCm39) |
A1246T |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,389,999 (GRCm39) |
Y214F |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,565 (GRCm39) |
V127I |
probably benign |
Het |
| Slc16a1 |
T |
A |
3: 104,560,148 (GRCm39) |
M151K |
possibly damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,818,525 (GRCm39) |
M171K |
possibly damaging |
Het |
| Styk1 |
A |
G |
6: 131,286,946 (GRCm39) |
V183A |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tspan18 |
T |
G |
2: 93,040,200 (GRCm39) |
D185A |
probably benign |
Het |
| Tti2 |
T |
A |
8: 31,645,570 (GRCm39) |
F320Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,621 (GRCm39) |
I17798M |
probably damaging |
Het |
| Ube2j1 |
C |
A |
4: 33,036,759 (GRCm39) |
H28N |
probably benign |
Het |
| Vmn1r195 |
A |
C |
13: 22,463,342 (GRCm39) |
I271L |
possibly damaging |
Het |
| Vmn2r81 |
A |
C |
10: 79,103,166 (GRCm39) |
T120P |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,673,965 (GRCm39) |
Y348F |
possibly damaging |
Het |
| Wtip |
A |
G |
7: 33,824,908 (GRCm39) |
|
probably null |
Het |
| Zc3h12d |
C |
T |
10: 7,729,022 (GRCm39) |
H129Y |
probably damaging |
Het |
| Zfp600 |
T |
G |
4: 146,131,673 (GRCm39) |
S114A |
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 |
|
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 |
|
|
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'- TCACAGATGCCAAGCACTG -3'
(R):5'- ATGCCCATGTCAGGAAGTGG -3'
Sequencing Primer
(F):5'- CACTGCATTGAGCTCAGATGGAATC -3'
(R):5'- CCCATGTCAGGAAGTGGTTATATTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation