Incidental Mutation 'IGL02098:Cts7'
| ID |
279675 |
| 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: 0.188)
|
| Stock # |
IGL02098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61500275-61506010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 61504343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 73
(F73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021892]
[ENSMUST00000224773]
[ENSMUST00000224986]
[ENSMUST00000225321]
|
| AlphaFold |
Q91ZF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021892
AA Change: F73L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: F73L
| 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 damaging
Transcript: ENSMUST00000224773
AA Change: F73L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224986
AA Change: F73L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225321
AA Change: F73L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| 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 |
|---|
| Adam25 |
C |
T |
8: 41,208,680 (GRCm39) |
P649S |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,786 (GRCm39) |
R788* |
probably null |
Het |
| Ccdc18 |
A |
G |
5: 108,349,977 (GRCm39) |
E1043G |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,250,655 (GRCm39) |
H691Q |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Eef1a2 |
G |
T |
2: 180,794,582 (GRCm39) |
P206T |
probably benign |
Het |
| Gcsh |
G |
T |
8: 117,715,875 (GRCm39) |
S69R |
probably damaging |
Het |
| Gm9989 |
T |
A |
3: 81,829,528 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,719 (GRCm39) |
T42I |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,975,663 (GRCm39) |
Y684C |
probably damaging |
Het |
| Kif6 |
G |
A |
17: 50,177,922 (GRCm39) |
G602D |
probably benign |
Het |
| Klb |
C |
A |
5: 65,537,228 (GRCm39) |
R853S |
probably benign |
Het |
| Mad1l1 |
A |
C |
5: 140,296,344 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,655,768 (GRCm39) |
N1077D |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,276 (GRCm39) |
S1858T |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,407,952 (GRCm39) |
E984G |
possibly damaging |
Het |
| Necab1 |
T |
A |
4: 14,955,892 (GRCm39) |
|
probably benign |
Het |
| Nexn |
G |
A |
3: 151,949,540 (GRCm39) |
R253* |
probably null |
Het |
| Npc1l1 |
A |
G |
11: 6,164,581 (GRCm39) |
L1156P |
probably damaging |
Het |
| Or2y1 |
T |
A |
11: 49,386,224 (GRCm39) |
I288N |
probably damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,433 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,976,937 (GRCm39) |
I196V |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,187 (GRCm39) |
S217P |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,248 (GRCm39) |
|
probably null |
Het |
| Rassf7 |
T |
C |
7: 140,798,203 (GRCm39) |
S381P |
possibly damaging |
Het |
| Rdh7 |
G |
T |
10: 127,720,607 (GRCm39) |
T255K |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,520,544 (GRCm39) |
I119F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,826,042 (GRCm39) |
F244L |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,205 (GRCm39) |
S269G |
probably damaging |
Het |
| Teddm2 |
C |
T |
1: 153,726,081 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,611 (GRCm39) |
D1465G |
possibly damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,099,064 (GRCm39) |
S43T |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation