Incidental Mutation 'R6286:Cts7'
| ID |
508245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cts7
|
| Ensembl Gene |
ENSMUSG00000021440 |
| Gene Name |
cathepsin 7 |
| Synonyms |
Epcs24, CTS1, Epcs71 |
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R6286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
61500275-61506010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61500584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 321
(G321E)
|
| 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: G321E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: G321E
| 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 damaging
Transcript: ENSMUST00000224986
AA Change: G321E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225321
|
| Meta Mutation Damage Score |
0.9295 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Eif3b |
G |
T |
5: 140,405,566 (GRCm39) |
D151Y |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,019,619 (GRCm39) |
T745A |
unknown |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Mrpl9 |
G |
C |
3: 94,351,097 (GRCm39) |
E92D |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,093,948 (GRCm39) |
V235A |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,471,293 (GRCm39) |
Q539* |
probably null |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,053,445 (GRCm39) |
H152L |
possibly damaging |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACTTCAGAACATCATCAATGG -3'
(R):5'- ACTCTGGTAGTTGGCCATCTGG -3'
Sequencing Primer
(F):5'- TCAGAACATCATCAATGGTTATGAC -3'
(R):5'- CCATCTGGCTTTTCTGATGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation