Incidental Mutation 'R3817:Cts7'
| ID |
274758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cts7
|
| Ensembl Gene |
ENSMUSG00000021440 |
| Gene Name |
cathepsin 7 |
| Synonyms |
Epcs24, CTS1, Epcs71 |
| MMRRC Submission |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
61500275-61506010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61504350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 71
(N71S)
|
| 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: N71S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021892
Gene: ENSMUSG00000021440
AA Change: N71S
| 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
AA Change: N71S
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224986
AA Change: N71S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225321
AA Change: N71S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| B3galt2 |
G |
T |
1: 143,522,811 (GRCm39) |
G316C |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,967,366 (GRCm39) |
N14T |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,122 (GRCm39) |
V422A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp672 |
G |
T |
11: 58,207,462 (GRCm39) |
H286Q |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCACTGGAGTCACATAGC -3'
(R):5'- TGCATATCTGTAGCAGCTAGTCC -3'
Sequencing Primer
(F):5'- ACTGGAGTCACATAGCCTTCC -3'
(R):5'- TGTAGCAGCTAGTCCACATG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation