Incidental Mutation 'IGL02903:Cts7'
| ID |
363714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cts7
|
| Ensembl Gene |
ENSMUSG00000021440 |
| Gene Name |
cathepsin 7 |
| Synonyms |
Epcs24, CTS1, Epcs71 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
IGL02903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61500275-61506010 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 61504440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021892]
[ENSMUST00000224773]
[ENSMUST00000224986]
[ENSMUST00000225321]
|
| AlphaFold |
Q91ZF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021892
|
| SMART Domains |
Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
29 |
88 |
2.02e-15 |
SMART |
|
Pept_C1
|
112 |
330 |
6.25e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225321
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
| Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
| Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
| Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
| Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
| Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
| Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
| Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
| Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
| Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
| Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
| Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
| Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
probably damaging |
Het |
|
| Other mutations in Cts7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Cts7
|
APN |
13 |
61,504,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01954:Cts7
|
APN |
13 |
61,500,637 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01973:Cts7
|
APN |
13 |
61,503,414 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02098:Cts7
|
APN |
13 |
61,504,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Cts7
|
APN |
13 |
61,504,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03351:Cts7
|
APN |
13 |
61,504,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Cts7
|
UTSW |
13 |
61,504,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Cts7
|
UTSW |
13 |
61,503,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Cts7
|
UTSW |
13 |
61,501,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1711:Cts7
|
UTSW |
13 |
61,500,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Cts7
|
UTSW |
13 |
61,500,586 (GRCm39) |
nonsense |
probably null |
|
|
R2442:Cts7
|
UTSW |
13 |
61,503,431 (GRCm39) |
nonsense |
probably null |
|
|
R3817:Cts7
|
UTSW |
13 |
61,504,350 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5513:Cts7
|
UTSW |
13 |
61,503,398 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5870:Cts7
|
UTSW |
13 |
61,503,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6286:Cts7
|
UTSW |
13 |
61,500,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6288:Cts7
|
UTSW |
13 |
61,500,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Cts7
|
UTSW |
13 |
61,503,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Cts7
|
UTSW |
13 |
61,502,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6721:Cts7
|
UTSW |
13 |
61,504,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Cts7
|
UTSW |
13 |
61,503,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7644:Cts7
|
UTSW |
13 |
61,504,782 (GRCm39) |
nonsense |
probably null |
|
|
R7939:Cts7
|
UTSW |
13 |
61,504,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Cts7
|
UTSW |
13 |
61,504,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9675:Cts7
|
UTSW |
13 |
61,504,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9703:Cts7
|
UTSW |
13 |
61,504,350 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9758:Cts7
|
UTSW |
13 |
61,504,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cts7
|
UTSW |
13 |
61,503,446 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Posted On |
2015-12-18 |
Incidental Mutation