Incidental Mutation 'R6933:Antxrl'
| ID |
540179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Antxrl
|
| Ensembl Gene |
ENSMUSG00000047441 |
| Gene Name |
anthrax toxin receptor-like |
| Synonyms |
1700112N15Rik |
| MMRRC Submission |
045048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6933 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33774625-33798280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33797728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 568
(N568D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058725]
[ENSMUST00000178958]
|
| AlphaFold |
Q8BVM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058725
AA Change: N568D
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
AA Change: N568D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
VWA
|
74 |
248 |
2.9e-19 |
SMART |
|
Pfam:Anth_Ig
|
249 |
351 |
6.7e-41 |
PFAM |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178958
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
| Validation Efficiency |
93% (41/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
| Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
| Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
| Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
| Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
| Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
| Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
| Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
| Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
| Other mutations in Antxrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01344:Antxrl
|
APN |
14 |
33,797,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01632:Antxrl
|
APN |
14 |
33,789,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02379:Antxrl
|
APN |
14 |
33,778,492 (GRCm39) |
splice site |
probably null |
|
|
IGL02381:Antxrl
|
APN |
14 |
33,778,568 (GRCm39) |
splice site |
probably null |
|
|
IGL02736:Antxrl
|
APN |
14 |
33,778,575 (GRCm39) |
unclassified |
probably benign |
|
|
R0631:Antxrl
|
UTSW |
14 |
33,780,758 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1190:Antxrl
|
UTSW |
14 |
33,791,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1406:Antxrl
|
UTSW |
14 |
33,794,999 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1406:Antxrl
|
UTSW |
14 |
33,794,999 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1454:Antxrl
|
UTSW |
14 |
33,782,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Antxrl
|
UTSW |
14 |
33,789,388 (GRCm39) |
intron |
probably benign |
|
|
R1638:Antxrl
|
UTSW |
14 |
33,792,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1996:Antxrl
|
UTSW |
14 |
33,797,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2174:Antxrl
|
UTSW |
14 |
33,782,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Antxrl
|
UTSW |
14 |
33,793,646 (GRCm39) |
intron |
probably benign |
|
|
R3850:Antxrl
|
UTSW |
14 |
33,789,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4178:Antxrl
|
UTSW |
14 |
33,776,928 (GRCm39) |
splice site |
probably null |
|
|
R4434:Antxrl
|
UTSW |
14 |
33,793,574 (GRCm39) |
intron |
probably benign |
|
|
R4603:Antxrl
|
UTSW |
14 |
33,797,792 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4769:Antxrl
|
UTSW |
14 |
33,795,027 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6003:Antxrl
|
UTSW |
14 |
33,797,592 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6047:Antxrl
|
UTSW |
14 |
33,775,433 (GRCm39) |
intron |
probably benign |
|
|
R6228:Antxrl
|
UTSW |
14 |
33,778,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6363:Antxrl
|
UTSW |
14 |
33,791,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Antxrl
|
UTSW |
14 |
33,782,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Antxrl
|
UTSW |
14 |
33,787,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Antxrl
|
UTSW |
14 |
33,787,873 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7257:Antxrl
|
UTSW |
14 |
33,787,806 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7315:Antxrl
|
UTSW |
14 |
33,793,504 (GRCm39) |
missense |
unknown |
|
|
R7981:Antxrl
|
UTSW |
14 |
33,787,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9070:Antxrl
|
UTSW |
14 |
33,793,671 (GRCm39) |
nonsense |
probably null |
|
|
R9097:Antxrl
|
UTSW |
14 |
33,793,660 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0028:Antxrl
|
UTSW |
14 |
33,775,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Antxrl
|
UTSW |
14 |
33,789,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Antxrl
|
UTSW |
14 |
33,789,887 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCATGAAACCCAGCTGC -3'
(R):5'- AGAACTTTGGTCCTTTAGAGATTGG -3'
Sequencing Primer
(F):5'- TGAAACCCAGCTGCTCACAGG -3'
(R):5'- TGACAAAGGGATTCTAAAGATTGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation