Incidental Mutation 'R3026:BC051665'
| ID |
265826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC051665
|
| Ensembl Gene |
ENSMUSG00000042243 |
| Gene Name |
cDNA sequence BC051665 |
| Synonyms |
cathepsin L-like |
| MMRRC Submission |
040542-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R3026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
60929701-60934178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60932521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 55
(N55Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026078]
|
| AlphaFold |
E9Q623 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026078
AA Change: N55Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: N55Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
29 |
88 |
6.16e-20 |
SMART |
|
Pept_C1
|
114 |
329 |
2.04e-123 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh19 |
T |
C |
1: 110,882,418 (GRCm39) |
T25A |
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,891 (GRCm39) |
S156T |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,080,384 (GRCm39) |
H124R |
probably benign |
Het |
| Gba2 |
C |
A |
4: 43,578,308 (GRCm39) |
A14S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,809,564 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mapk8ip2 |
C |
T |
15: 89,345,649 (GRCm39) |
A803V |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,660,465 (GRCm39) |
S702P |
probably damaging |
Het |
| Nudt14 |
T |
C |
12: 112,905,612 (GRCm39) |
Q27R |
probably null |
Het |
| Or51h1 |
T |
C |
7: 102,308,336 (GRCm39) |
F103L |
possibly damaging |
Het |
| Pdilt |
T |
A |
7: 119,114,177 (GRCm39) |
Q107L |
probably benign |
Het |
| Rasgrp3 |
T |
C |
17: 75,831,916 (GRCm39) |
V579A |
possibly damaging |
Het |
| Rasl11a |
G |
A |
5: 146,784,187 (GRCm39) |
V211I |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,062,656 (GRCm39) |
S867P |
possibly damaging |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,321,755 (GRCm39) |
E49G |
probably benign |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,932 (GRCm39) |
V162I |
probably benign |
Het |
|
| Other mutations in BC051665 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01449:BC051665
|
APN |
13 |
60,930,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:BC051665
|
APN |
13 |
60,932,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL02901:BC051665
|
APN |
13 |
60,932,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03221:BC051665
|
APN |
13 |
60,932,242 (GRCm39) |
nonsense |
probably null |
|
|
PIT4519001:BC051665
|
UTSW |
13 |
60,931,989 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0486:BC051665
|
UTSW |
13 |
60,931,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0591:BC051665
|
UTSW |
13 |
60,932,422 (GRCm39) |
splice site |
probably benign |
|
|
R1238:BC051665
|
UTSW |
13 |
60,932,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:BC051665
|
UTSW |
13 |
60,932,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1572:BC051665
|
UTSW |
13 |
60,932,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:BC051665
|
UTSW |
13 |
60,932,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2176:BC051665
|
UTSW |
13 |
60,932,344 (GRCm39) |
splice site |
probably benign |
|
|
R2346:BC051665
|
UTSW |
13 |
60,931,774 (GRCm39) |
splice site |
probably benign |
|
|
R2504:BC051665
|
UTSW |
13 |
60,930,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2980:BC051665
|
UTSW |
13 |
60,932,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3751:BC051665
|
UTSW |
13 |
60,931,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:BC051665
|
UTSW |
13 |
60,931,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:BC051665
|
UTSW |
13 |
60,932,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5856:BC051665
|
UTSW |
13 |
60,932,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5898:BC051665
|
UTSW |
13 |
60,930,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:BC051665
|
UTSW |
13 |
60,932,222 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6977:BC051665
|
UTSW |
13 |
60,932,486 (GRCm39) |
nonsense |
probably null |
|
|
R7238:BC051665
|
UTSW |
13 |
60,930,536 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7460:BC051665
|
UTSW |
13 |
60,932,457 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7798:BC051665
|
UTSW |
13 |
60,932,249 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8947:BC051665
|
UTSW |
13 |
60,930,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:BC051665
|
UTSW |
13 |
60,932,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9645:BC051665
|
UTSW |
13 |
60,932,545 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1088:BC051665
|
UTSW |
13 |
60,932,457 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCCAGTCATCAATTCTCTG -3'
(R):5'- GGCAGGCTTTATGAACACTGG -3'
Sequencing Primer
(F):5'- AGCCAGTCATCAATTCTCTGAATTC -3'
(R):5'- GCTTTATGAACACTGGTGGCAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation