Incidental Mutation 'R3897:Cts3'
| ID |
309023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cts3
|
| Ensembl Gene |
ENSMUSG00000074870 |
| Gene Name |
cathepsin 3 |
| Synonyms |
1600000I23Rik |
| MMRRC Submission |
040808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R3897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
61712444-61717941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61712800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 307
(Y307H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054702]
[ENSMUST00000223815]
[ENSMUST00000224855]
[ENSMUST00000225902]
|
| AlphaFold |
Q91ZD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054702
AA Change: Y307H
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000058359
Gene: ENSMUSG00000074870
AA Change: Y307H
| Domain | Start | End | E-Value | Type |
|---|
|
Inhibitor_I29
|
29 |
88 |
2.48e-24 |
SMART |
|
Pept_C1
|
114 |
331 |
1.33e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223815
AA Change: Y307H
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225902
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
| Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
| Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
| Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
| Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
| Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
| Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
| Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
probably benign |
Het |
|
| Other mutations in Cts3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Cts3
|
APN |
13 |
61,715,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02662:Cts3
|
APN |
13 |
61,715,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Cts3
|
UTSW |
13 |
61,716,024 (GRCm39) |
unclassified |
probably benign |
|
|
R1673:Cts3
|
UTSW |
13 |
61,715,368 (GRCm39) |
nonsense |
probably null |
|
|
R1793:Cts3
|
UTSW |
13 |
61,715,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2403:Cts3
|
UTSW |
13 |
61,712,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Cts3
|
UTSW |
13 |
61,715,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4052:Cts3
|
UTSW |
13 |
61,716,535 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4669:Cts3
|
UTSW |
13 |
61,714,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4907:Cts3
|
UTSW |
13 |
61,714,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5121:Cts3
|
UTSW |
13 |
61,715,409 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5572:Cts3
|
UTSW |
13 |
61,712,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5774:Cts3
|
UTSW |
13 |
61,716,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Cts3
|
UTSW |
13 |
61,716,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Cts3
|
UTSW |
13 |
61,716,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Cts3
|
UTSW |
13 |
61,714,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Cts3
|
UTSW |
13 |
61,716,535 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7346:Cts3
|
UTSW |
13 |
61,715,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7642:Cts3
|
UTSW |
13 |
61,716,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7948:Cts3
|
UTSW |
13 |
61,713,863 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8060:Cts3
|
UTSW |
13 |
61,714,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Cts3
|
UTSW |
13 |
61,715,235 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Cts3
|
UTSW |
13 |
61,712,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9218:Cts3
|
UTSW |
13 |
61,716,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9707:Cts3
|
UTSW |
13 |
61,714,649 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9717:Cts3
|
UTSW |
13 |
61,712,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cts3
|
UTSW |
13 |
61,716,561 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGTGACTGCAGTGTCTC -3'
(R):5'- GACACAATCATTATTTCTGAGCCACAC -3'
Sequencing Primer
(F):5'- AGTGACTGCAGTGTCTCATATTCAC -3'
(R):5'- CATTATTTCTGAGCCACACATGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation