Incidental Mutation 'R6643:Cts6'
ID |
525955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cts6
|
Ensembl Gene |
ENSMUSG00000021441 |
Gene Name |
cathepsin 6 |
Synonyms |
1600022N02Rik |
MMRRC Submission |
044764-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6643 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61342961-61351206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61349607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 62
(H62L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021890]
|
AlphaFold |
Q9ET52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021890
AA Change: H62L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021890 Gene: ENSMUSG00000021441 AA Change: H62L
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,183,644 (GRCm39) |
S140P |
probably damaging |
Het |
Atp5mc1 |
A |
C |
11: 95,964,854 (GRCm39) |
C17W |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,470 (GRCm39) |
S161P |
unknown |
Het |
Cntrob |
A |
G |
11: 69,202,248 (GRCm39) |
V448A |
possibly damaging |
Het |
Col22a1 |
T |
C |
15: 71,693,886 (GRCm39) |
|
probably null |
Het |
Col6a4 |
T |
C |
9: 105,877,830 (GRCm39) |
Y2049C |
probably damaging |
Het |
Cpn1 |
C |
T |
19: 43,948,472 (GRCm39) |
D395N |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,266,390 (GRCm39) |
T769A |
probably benign |
Het |
Ddx42 |
G |
T |
11: 106,119,646 (GRCm39) |
V144F |
probably benign |
Het |
E130308A19Rik |
A |
G |
4: 59,720,561 (GRCm39) |
S698G |
possibly damaging |
Het |
Eif2b3 |
T |
C |
4: 116,927,954 (GRCm39) |
L391P |
probably damaging |
Het |
Gm1043 |
T |
C |
5: 37,330,895 (GRCm39) |
I525T |
probably benign |
Het |
Kifc1 |
C |
T |
17: 34,104,829 (GRCm39) |
G59S |
probably benign |
Het |
Lancl1 |
T |
C |
1: 67,043,542 (GRCm39) |
E360G |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,332,340 (GRCm39) |
L1679S |
probably benign |
Het |
Mroh9 |
T |
A |
1: 162,903,130 (GRCm39) |
D91V |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Ntsr1 |
T |
C |
2: 180,142,719 (GRCm39) |
I170T |
probably damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,911 (GRCm39) |
I77F |
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,776 (GRCm39) |
I273T |
probably benign |
Het |
Or6n2 |
T |
C |
1: 173,897,611 (GRCm39) |
L249P |
probably damaging |
Het |
Or6z5 |
G |
A |
7: 6,477,720 (GRCm39) |
D204N |
probably benign |
Het |
Pcolce |
T |
A |
5: 137,607,165 (GRCm39) |
T109S |
probably damaging |
Het |
Reg3b |
C |
A |
6: 78,349,905 (GRCm39) |
S148R |
possibly damaging |
Het |
Rps6ka4 |
A |
G |
19: 6,809,731 (GRCm39) |
S365P |
probably damaging |
Het |
Slc27a4 |
A |
G |
2: 29,702,860 (GRCm39) |
E563G |
probably benign |
Het |
Slc4a10 |
C |
T |
2: 62,059,054 (GRCm39) |
T187M |
possibly damaging |
Het |
Slc5a7 |
G |
T |
17: 54,583,644 (GRCm39) |
Q549K |
probably benign |
Het |
Stxbp3 |
A |
G |
3: 108,701,150 (GRCm39) |
L573P |
probably damaging |
Het |
Suco |
A |
T |
1: 161,687,001 (GRCm39) |
S120T |
possibly damaging |
Het |
Tnni2 |
G |
T |
7: 141,998,016 (GRCm39) |
G163V |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,923,262 (GRCm39) |
I201T |
possibly damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,945 (GRCm39) |
T263A |
probably benign |
Het |
Wdr1 |
A |
T |
5: 38,697,521 (GRCm39) |
D262E |
probably damaging |
Het |
Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,343,667 (GRCm39) |
E682G |
possibly damaging |
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 |
R4553:Cts6
|
UTSW |
13 |
61,345,407 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTGGGTAGAACATCACCAACTGC -3'
(R):5'- GGTGACAGTGTCCTGAAACC -3'
Sequencing Primer
(F):5'- AACTGCGCGCTTCCTGATG -3'
(R):5'- GTGACAGTGTCCTGAAACCTTTCC -3'
|
Posted On |
2018-06-22 |