Incidental Mutation 'R1238:BC051665'
| ID |
152510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
BC051665
|
| Ensembl Gene |
ENSMUSG00000042243 |
| Gene Name |
cDNA sequence BC051665 |
| Synonyms |
cathepsin L-like |
| MMRRC Submission |
039305-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R1238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
60929701-60934178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60932451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 78
(N78I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026078]
|
| AlphaFold |
E9Q623 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026078
AA Change: N78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: N78I
| 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 |
0.9744 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
G |
A |
14: 118,835,051 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,353,725 (GRCm39) |
Q819H |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cit |
T |
A |
5: 115,989,280 (GRCm39) |
F56I |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,835 (GRCm39) |
F222L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,762,675 (GRCm39) |
A769V |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,397,909 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,018,852 (GRCm39) |
R607G |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,817,338 (GRCm39) |
E745A |
probably benign |
Het |
| Eif1ad |
T |
G |
19: 5,420,111 (GRCm39) |
*171G |
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,264 (GRCm39) |
V246A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,482,908 (GRCm39) |
D146G |
probably damaging |
Het |
| Iqub |
C |
T |
6: 24,505,884 (GRCm39) |
R8H |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,282 (GRCm39) |
R1161H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,897,648 (GRCm39) |
S675P |
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,222 (GRCm39) |
V346E |
probably damaging |
Het |
| Or1j21 |
A |
T |
2: 36,683,601 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or7d11 |
T |
A |
9: 19,966,757 (GRCm39) |
M1L |
probably benign |
Het |
| P2rx1 |
A |
C |
11: 72,903,784 (GRCm39) |
K282T |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,274,758 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
A |
G |
10: 85,721,726 (GRCm39) |
I411V |
probably benign |
Het |
| Rnaset2b |
T |
C |
17: 7,256,169 (GRCm39) |
S12P |
probably damaging |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
| Slc25a21 |
T |
A |
12: 56,785,272 (GRCm39) |
I202F |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,264,440 (GRCm39) |
V472A |
probably benign |
Het |
| Ttc12 |
A |
T |
9: 49,369,487 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
T |
G |
5: 87,073,988 (GRCm39) |
I124L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 9,997,763 (GRCm39) |
N357K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGACAGTGATACCTGGAATGTG -3'
(R):5'- GGTGGACAGATACCCTTGGTTCTTG -3'
Sequencing Primer
(F):5'- CTGGTCTTTCACAGGAGTCACATAG -3'
(R):5'- GAGGGAACTAATGCTGGGTT -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation