Incidental Mutation 'IGL02901:BC051665'
| ID |
363587 |
| 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 # |
IGL02901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
60929701-60934178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60932532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 51
(V51E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026078]
|
| AlphaFold |
E9Q623 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026078
AA Change: V51E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: V51E
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
T |
2: 131,403,524 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,245 (GRCm39) |
D1162G |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,439,482 (GRCm39) |
M637T |
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,992 (GRCm39) |
A440T |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,522,529 (GRCm39) |
V164E |
probably damaging |
Het |
| Cox6a2 |
A |
C |
7: 127,805,454 (GRCm39) |
L5R |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,483,696 (GRCm39) |
L849* |
probably null |
Het |
| Dclk1 |
A |
G |
3: 55,395,208 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,627,964 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
G |
6: 24,454,194 (GRCm39) |
L563P |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,528,772 (GRCm39) |
I300F |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,583 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,747,632 (GRCm39) |
I411T |
probably benign |
Het |
| Misp |
A |
T |
10: 79,662,771 (GRCm39) |
Y396F |
possibly damaging |
Het |
| Nhsl2 |
T |
A |
X: 101,122,849 (GRCm39) |
V884D |
probably benign |
Het |
| Nxf7 |
A |
T |
X: 134,487,984 (GRCm39) |
|
probably null |
Het |
| Or10al4 |
T |
A |
17: 38,037,311 (GRCm39) |
I132K |
probably damaging |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,029 (GRCm39) |
K283* |
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Proc |
T |
G |
18: 32,256,678 (GRCm39) |
T330P |
possibly damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,615 (GRCm39) |
D221G |
probably damaging |
Het |
| Prss55 |
T |
A |
14: 64,314,576 (GRCm39) |
N198I |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,959,138 (GRCm39) |
S10P |
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,215,614 (GRCm39) |
V115A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,649,207 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,787,347 (GRCm39) |
N751S |
probably damaging |
Het |
| Upk1a |
A |
T |
7: 30,303,204 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,268,470 (GRCm39) |
E224D |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,106,564 (GRCm39) |
T514I |
probably damaging |
Het |
| Zkscan16 |
T |
C |
4: 58,946,283 (GRCm39) |
W53R |
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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation