Incidental Mutation 'IGL03221:BC051665'
| ID |
413652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BC051665
|
| Ensembl Gene |
ENSMUSG00000042243 |
| Gene Name |
cDNA sequence BC051665 |
| Synonyms |
cathepsin L-like |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
IGL03221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
60929701-60934178 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 60932242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 116
(K116*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026078]
|
| AlphaFold |
E9Q623 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026078
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: K116*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
C |
T |
6: 113,737,820 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,934,002 (GRCm39) |
T2538S |
probably benign |
Het |
| Btn2a2 |
A |
G |
13: 23,662,619 (GRCm39) |
S435P |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,706,014 (GRCm39) |
L841P |
probably damaging |
Het |
| Etv4 |
C |
T |
11: 101,664,988 (GRCm39) |
R155K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,608,062 (GRCm39) |
M928K |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,144,870 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,822,299 (GRCm39) |
M342L |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,799 (GRCm39) |
K163* |
probably null |
Het |
| Hycc2 |
C |
A |
1: 58,579,345 (GRCm39) |
V231L |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,357,524 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,890,764 (GRCm39) |
V838A |
possibly damaging |
Het |
| Mypn |
C |
A |
10: 62,966,902 (GRCm39) |
D925Y |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,124,166 (GRCm39) |
D27G |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,781 (GRCm39) |
S89P |
possibly damaging |
Het |
| Or5b97 |
G |
T |
19: 12,878,905 (GRCm39) |
P80T |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,133 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
G |
T |
18: 30,435,984 (GRCm39) |
M394I |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,526,088 (GRCm39) |
R1093C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,126,973 (GRCm39) |
V458A |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,548,591 (GRCm39) |
V39A |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,917,931 (GRCm39) |
M558V |
probably benign |
Het |
| Smpx |
T |
C |
X: 156,503,994 (GRCm39) |
V65A |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,869,922 (GRCm39) |
F116I |
possibly damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,262,227 (GRCm39) |
V12E |
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,588,953 (GRCm39) |
R757H |
probably damaging |
Het |
| Ttc38 |
T |
A |
15: 85,718,742 (GRCm39) |
S51T |
probably benign |
Het |
| Wee1 |
G |
A |
7: 109,726,024 (GRCm39) |
C378Y |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation