Incidental Mutation 'R2346:BC051665'
ID |
245959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
BC051665
|
Ensembl Gene |
ENSMUSG00000042243 |
Gene Name |
cDNA sequence BC051665 |
Synonyms |
cathepsin L-like |
MMRRC Submission |
040329-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R2346 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
60929701-60934178 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 60931774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026078]
|
AlphaFold |
E9Q623 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026078
|
SMART Domains |
Protein: ENSMUSP00000026078 Gene: ENSMUSG00000042243
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (21/21) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,378,852 (GRCm39) |
L137P |
probably damaging |
Het |
Elf2 |
A |
G |
3: 51,164,865 (GRCm39) |
S380P |
probably benign |
Het |
Fbxw15 |
T |
C |
9: 109,394,500 (GRCm39) |
Y105C |
probably damaging |
Het |
Gm12588 |
T |
C |
11: 121,796,994 (GRCm39) |
Y285C |
probably benign |
Het |
Gm21276 |
T |
A |
7: 38,467,575 (GRCm39) |
|
noncoding transcript |
Het |
Kat2b |
A |
G |
17: 53,917,932 (GRCm39) |
N97S |
probably benign |
Het |
Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or8a1b |
T |
C |
9: 37,622,661 (GRCm39) |
R305G |
possibly damaging |
Het |
Pkhd1l1 |
C |
A |
15: 44,423,902 (GRCm39) |
A3148E |
possibly damaging |
Het |
Prkar2b |
T |
C |
12: 32,022,149 (GRCm39) |
N212S |
probably benign |
Het |
Rp1 |
T |
A |
1: 4,418,236 (GRCm39) |
T959S |
probably damaging |
Het |
Samd4 |
G |
A |
14: 47,122,299 (GRCm39) |
G8R |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skiv2l-ps1 |
A |
G |
17: 34,989,076 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r20 |
A |
G |
6: 57,408,931 (GRCm39) |
M86V |
possibly damaging |
Het |
Vwa1 |
A |
G |
4: 155,857,526 (GRCm39) |
Y91H |
probably benign |
Het |
Zan |
A |
G |
5: 137,420,129 (GRCm39) |
S2843P |
unknown |
Het |
Zbtb39 |
A |
T |
10: 127,577,450 (GRCm39) |
Q8L |
possibly damaging |
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 |
|
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 |
R3026:BC051665
|
UTSW |
13 |
60,932,521 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCAGCTACGTGGAAACTACAG -3'
(R):5'- GTGTGGGTGACAACCTTTTC -3'
Sequencing Primer
(F):5'- GCTACGTGGAAACTACAGAAATC -3'
(R):5'- GTGGGTGACAACCTTTTCTTTCTTC -3'
|
Posted On |
2014-10-30 |