Incidental Mutation 'R4178:Antxrl'
| ID |
319604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Antxrl
|
| Ensembl Gene |
ENSMUSG00000047441 |
| Gene Name |
anthrax toxin receptor-like |
| Synonyms |
1700112N15Rik |
| MMRRC Submission |
040864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33774625-33798280 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 33776928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058725]
[ENSMUST00000178958]
[ENSMUST00000226211]
[ENSMUST00000227979]
|
| AlphaFold |
Q8BVM2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058725
|
| SMART Domains |
Protein: ENSMUSP00000052816
Gene: ENSMUSG00000047441
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226211
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227979
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
T |
6: 113,770,679 (GRCm39) |
V410E |
probably damaging |
Het |
| C6 |
G |
A |
15: 4,764,621 (GRCm39) |
V106I |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,804,896 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,272,216 (GRCm39) |
L1323Q |
possibly damaging |
Het |
| Ehd4 |
T |
A |
2: 119,984,829 (GRCm39) |
Y43F |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,328,490 (GRCm39) |
I90T |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,363,477 (GRCm39) |
Y662C |
probably benign |
Het |
| Fkbp14 |
A |
G |
6: 54,566,299 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Iqcd |
C |
A |
5: 120,740,476 (GRCm39) |
T269K |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,668,972 (GRCm39) |
C249* |
probably null |
Het |
| Kcnab2 |
T |
C |
4: 152,489,058 (GRCm39) |
R109G |
probably null |
Het |
| Obox7 |
A |
G |
7: 14,398,032 (GRCm39) |
Q24R |
probably damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,031 (GRCm39) |
Q24K |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,565 (GRCm39) |
N155D |
probably damaging |
Het |
| Or5p68 |
G |
A |
7: 107,945,765 (GRCm39) |
T141I |
probably benign |
Het |
| Or8g18 |
A |
C |
9: 39,149,375 (GRCm39) |
L115* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,191,688 (GRCm39) |
S1049P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,004,848 (GRCm39) |
F409I |
possibly damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,120,725 (GRCm39) |
Y338C |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,445,787 (GRCm39) |
E588G |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,873,666 (GRCm39) |
R63G |
probably damaging |
Het |
| Zfp775 |
A |
G |
6: 48,590,187 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,966,940 (GRCm39) |
C1010R |
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 |
|
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'- TCTGCAGCAGTAACAAGGGG -3'
(R):5'- AAGACCCTGAAAGTTTTCTCTGAG -3'
Sequencing Primer
(F):5'- GGCAGGTTGCTAAAAATCCTG -3'
(R):5'- AAAGTTTTCTCTGAGAGTTTTTGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation