Incidental Mutation 'R1190:Antxrl'
ID |
100754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Antxrl
|
Ensembl Gene |
ENSMUSG00000047441 |
Gene Name |
anthrax toxin receptor-like |
Synonyms |
1700112N15Rik |
MMRRC Submission |
039262-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
33774625-33798280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33791207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 367
(F367L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052816
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058725]
[ENSMUST00000178958]
|
AlphaFold |
Q8BVM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058725
AA Change: F367L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000052816 Gene: ENSMUSG00000047441 AA Change: F367L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215823
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,933,001 (GRCm39) |
R3586W |
probably damaging |
Het |
Dpysl2 |
A |
G |
14: 67,061,850 (GRCm39) |
V252A |
probably benign |
Het |
Dus2 |
T |
C |
8: 106,771,497 (GRCm39) |
S208P |
possibly damaging |
Het |
Elk3 |
T |
C |
10: 93,101,058 (GRCm39) |
N231S |
probably benign |
Het |
Ephx1 |
A |
T |
1: 180,821,494 (GRCm39) |
M280K |
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,959,373 (GRCm39) |
M138T |
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,666,659 (GRCm39) |
Y593N |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lep |
G |
T |
6: 29,071,173 (GRCm39) |
E166* |
probably null |
Het |
Limch1 |
A |
G |
5: 67,126,540 (GRCm39) |
D56G |
probably damaging |
Het |
Or4d10c |
G |
T |
19: 12,066,051 (GRCm39) |
T35K |
possibly damaging |
Het |
Pkn2 |
A |
T |
3: 142,517,286 (GRCm39) |
|
probably null |
Het |
Plxna4 |
A |
G |
6: 32,228,071 (GRCm39) |
Y512H |
probably damaging |
Het |
Tekt1 |
A |
T |
11: 72,246,039 (GRCm39) |
I161N |
probably damaging |
Het |
Tex14 |
T |
G |
11: 87,385,934 (GRCm39) |
|
probably null |
Het |
Trpc3 |
T |
C |
3: 36,725,497 (GRCm39) |
N160D |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,440,107 (GRCm39) |
S264P |
probably damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,726 (GRCm39) |
A148V |
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 |
|
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 |
R6933:Antxrl
|
UTSW |
14 |
33,797,728 (GRCm39) |
missense |
possibly damaging |
0.53 |
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'- ACTAACCCCACTGTAGCTCCTTGTG -3'
(R):5'- AGTTTGTGCCTCCCCTGGATGATG -3'
Sequencing Primer
(F):5'- TCCTTGTGTCGAGGCAAGC -3'
(R):5'- CGGATGGGAACTTGTCAGC -3'
|
Posted On |
2014-01-15 |