Incidental Mutation 'R4553:Cts6'
ID |
341790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cts6
|
Ensembl Gene |
ENSMUSG00000021441 |
Gene Name |
cathepsin 6 |
Synonyms |
1600022N02Rik |
MMRRC Submission |
041595-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4553 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
61342961-61351206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61345407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 230
(P230L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021890]
|
AlphaFold |
Q9ET52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021890
AA Change: P230L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021890 Gene: ENSMUSG00000021441 AA Change: P230L
Domain | Start | End | E-Value | Type |
Inhibitor_I29
|
29 |
88 |
3.17e-22 |
SMART |
Pept_C1
|
115 |
333 |
9.61e-111 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500011B03Rik |
T |
C |
5: 114,951,254 (GRCm39) |
Y49C |
probably damaging |
Het |
Adat1 |
T |
C |
8: 112,716,912 (GRCm39) |
T32A |
probably damaging |
Het |
Adra2a |
T |
C |
19: 54,035,166 (GRCm39) |
V174A |
possibly damaging |
Het |
Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
Cand2 |
C |
A |
6: 115,769,172 (GRCm39) |
R661S |
probably damaging |
Het |
Cd274 |
T |
C |
19: 29,357,848 (GRCm39) |
V180A |
probably benign |
Het |
Crat |
T |
C |
2: 30,298,229 (GRCm39) |
T157A |
probably benign |
Het |
Dppa2 |
A |
G |
16: 48,130,877 (GRCm39) |
Y3C |
possibly damaging |
Het |
Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
Garin1a |
A |
G |
6: 29,287,705 (GRCm39) |
I210M |
probably benign |
Het |
Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
Hgfac |
T |
A |
5: 35,200,200 (GRCm39) |
C130S |
probably damaging |
Het |
Ifi35 |
T |
C |
11: 101,348,717 (GRCm39) |
V188A |
probably damaging |
Het |
Iqsec2 |
A |
G |
X: 150,994,277 (GRCm39) |
H585R |
probably benign |
Het |
Itih4 |
T |
C |
14: 30,622,910 (GRCm39) |
L842P |
probably damaging |
Het |
Kif3a |
C |
A |
11: 53,469,745 (GRCm39) |
L119I |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,343,629 (GRCm39) |
D910G |
probably benign |
Het |
Lyve1 |
T |
C |
7: 110,451,567 (GRCm39) |
|
probably null |
Het |
Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,353,205 (GRCm39) |
T398A |
possibly damaging |
Het |
Nlrp4e |
T |
C |
7: 23,020,404 (GRCm39) |
M297T |
probably benign |
Het |
Nog |
A |
G |
11: 89,192,248 (GRCm39) |
L200P |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
Phf11b |
G |
A |
14: 59,578,734 (GRCm39) |
P11S |
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
Pld1 |
G |
T |
3: 28,178,851 (GRCm39) |
R915L |
probably benign |
Het |
Sell |
C |
T |
1: 163,899,685 (GRCm39) |
T34I |
probably benign |
Het |
Slc34a1 |
G |
A |
13: 55,559,874 (GRCm39) |
|
probably null |
Het |
Slc8b1 |
T |
C |
5: 120,667,663 (GRCm39) |
V432A |
probably damaging |
Het |
Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,661,015 (GRCm39) |
T700A |
probably benign |
Het |
|
Other mutations in Cts6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00770:Cts6
|
APN |
13 |
61,346,153 (GRCm39) |
splice site |
probably benign |
|
IGL00774:Cts6
|
APN |
13 |
61,346,153 (GRCm39) |
splice site |
probably benign |
|
IGL02237:Cts6
|
APN |
13 |
61,345,313 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03071:Cts6
|
APN |
13 |
61,350,064 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03224:Cts6
|
APN |
13 |
61,349,547 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03282:Cts6
|
APN |
13 |
61,344,261 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0086:Cts6
|
UTSW |
13 |
61,344,271 (GRCm39) |
splice site |
probably benign |
|
R0201:Cts6
|
UTSW |
13 |
61,349,313 (GRCm39) |
nonsense |
probably null |
|
R0238:Cts6
|
UTSW |
13 |
61,349,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Cts6
|
UTSW |
13 |
61,349,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:Cts6
|
UTSW |
13 |
61,346,153 (GRCm39) |
splice site |
probably benign |
|
R0676:Cts6
|
UTSW |
13 |
61,345,298 (GRCm39) |
splice site |
probably benign |
|
R1471:Cts6
|
UTSW |
13 |
61,344,194 (GRCm39) |
missense |
probably benign |
0.00 |
R1594:Cts6
|
UTSW |
13 |
61,346,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Cts6
|
UTSW |
13 |
61,349,393 (GRCm39) |
missense |
probably benign |
0.26 |
R1865:Cts6
|
UTSW |
13 |
61,349,393 (GRCm39) |
missense |
probably benign |
0.26 |
R1902:Cts6
|
UTSW |
13 |
61,349,329 (GRCm39) |
nonsense |
probably null |
|
R2097:Cts6
|
UTSW |
13 |
61,343,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R2235:Cts6
|
UTSW |
13 |
61,343,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R2829:Cts6
|
UTSW |
13 |
61,349,311 (GRCm39) |
missense |
probably benign |
0.01 |
R2910:Cts6
|
UTSW |
13 |
61,344,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R3757:Cts6
|
UTSW |
13 |
61,349,972 (GRCm39) |
nonsense |
probably null |
|
R4460:Cts6
|
UTSW |
13 |
61,343,272 (GRCm39) |
missense |
probably benign |
0.25 |
R4623:Cts6
|
UTSW |
13 |
61,349,974 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4793:Cts6
|
UTSW |
13 |
61,349,626 (GRCm39) |
missense |
probably benign |
0.00 |
R4809:Cts6
|
UTSW |
13 |
61,349,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Cts6
|
UTSW |
13 |
61,349,415 (GRCm39) |
missense |
probably null |
|
R4866:Cts6
|
UTSW |
13 |
61,350,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5055:Cts6
|
UTSW |
13 |
61,344,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Cts6
|
UTSW |
13 |
61,349,626 (GRCm39) |
missense |
probably benign |
0.00 |
R6236:Cts6
|
UTSW |
13 |
61,344,192 (GRCm39) |
nonsense |
probably null |
|
R6428:Cts6
|
UTSW |
13 |
61,344,237 (GRCm39) |
missense |
probably damaging |
0.96 |
R6501:Cts6
|
UTSW |
13 |
61,344,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R6508:Cts6
|
UTSW |
13 |
61,344,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R6643:Cts6
|
UTSW |
13 |
61,349,607 (GRCm39) |
missense |
probably damaging |
0.96 |
R7397:Cts6
|
UTSW |
13 |
61,350,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8283:Cts6
|
UTSW |
13 |
61,349,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R8329:Cts6
|
UTSW |
13 |
61,343,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9009:Cts6
|
UTSW |
13 |
61,344,261 (GRCm39) |
missense |
probably benign |
0.04 |
R9438:Cts6
|
UTSW |
13 |
61,350,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGTATGTAGTGAGCCCATG -3'
(R):5'- TGTGTTCCAGATTTCCTAGTACAC -3'
Sequencing Primer
(F):5'- AGCCCATGAATATGTAGTGGTATG -3'
(R):5'- CAGCCAAGAATGTAGCATGTCCTG -3'
|
Posted On |
2015-09-24 |