Incidental Mutation 'IGL00940:Cts7'
| ID |
28860 |
| 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 # |
IGL00940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61500275-61506010 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 61504723 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 null
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 null
Transcript: ENSMUST00000224986
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225321
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
A |
G |
17: 28,276,328 (GRCm39) |
N1024D |
probably damaging |
Het |
| Dock3 |
T |
A |
9: 106,788,576 (GRCm39) |
|
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,940 (GRCm39) |
F120I |
probably damaging |
Het |
| Il4ra |
G |
A |
7: 125,168,347 (GRCm39) |
|
probably null |
Het |
| Irs4 |
A |
T |
X: 140,505,140 (GRCm39) |
F1019I |
unknown |
Het |
| Klc1 |
A |
G |
12: 111,753,932 (GRCm39) |
T464A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,999,371 (GRCm39) |
T660A |
possibly damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,090,955 (GRCm39) |
V158E |
probably damaging |
Het |
| Nhs |
T |
A |
X: 160,620,226 (GRCm39) |
N1510I |
probably damaging |
Het |
| Or51e2 |
A |
G |
7: 102,391,469 (GRCm39) |
V247A |
probably damaging |
Het |
| Or8k38 |
T |
G |
2: 86,488,070 (GRCm39) |
H244P |
probably damaging |
Het |
| Pole2 |
G |
A |
12: 69,262,134 (GRCm39) |
T148I |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,126 (GRCm39) |
L267H |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,733 (GRCm39) |
E803G |
probably damaging |
Het |
| Rassf1 |
G |
T |
9: 107,435,510 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,164,872 (GRCm39) |
K210R |
probably benign |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,745,174 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,372 (GRCm39) |
R140L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,761 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,090,158 (GRCm39) |
R414* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,327,674 (GRCm39) |
S559P |
probably benign |
Het |
|
| Other mutations in Cts7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02903:Cts7
|
APN |
13 |
61,504,440 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation