Incidental Mutation 'R5127:Cts8'
ID 394833
Institutional Source Beutler Lab
Gene Symbol Cts8
Ensembl Gene ENSMUSG00000057446
Gene Name cathepsin 8
Synonyms Epcs68, CTS2, Epcs70
MMRRC Submission 042715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R5127 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 61394561-61403162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61401149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 126 (V126M)
Ref Sequence ENSEMBL: ENSMUSP00000021891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021891] [ENSMUST00000223988]
AlphaFold Q9JI81
Predicted Effect probably damaging
Transcript: ENSMUST00000021891
AA Change: V126M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: V126M

DomainStartEndE-ValueType
Inhibitor_I29 29 88 1.92e-21 SMART
Pept_C1 114 332 2.28e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223988
Meta Mutation Damage Score 0.6299 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (42/45)
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,902,826 (GRCm39) K497E probably damaging Het
4933413J09Rik A G 14: 26,097,462 (GRCm39) noncoding transcript Het
Aox1 A T 1: 58,069,185 (GRCm39) I4F probably benign Het
Arhgef5 A T 6: 43,250,148 (GRCm39) N300Y probably damaging Het
B530045E10Rik A G 10: 99,257,983 (GRCm39) noncoding transcript Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cdh20 A G 1: 104,875,073 (GRCm39) E285G probably damaging Het
Cfap54 A T 10: 92,722,249 (GRCm39) probably null Het
Col6a3 A G 1: 90,696,067 (GRCm39) C2667R unknown Het
Dag1 A T 9: 108,084,771 (GRCm39) I790N possibly damaging Het
Ddit4 A G 10: 59,786,491 (GRCm39) I186T probably damaging Het
Dnajc11 T A 4: 152,054,271 (GRCm39) probably benign Het
Farsa A G 8: 85,595,593 (GRCm39) D495G probably benign Het
Gm1527 T A 3: 28,957,567 (GRCm39) I157N probably damaging Het
Gm5773 T A 3: 93,680,735 (GRCm39) W136R probably benign Het
Hpse C A 5: 100,867,403 (GRCm39) A20S unknown Het
Igfn1 A G 1: 135,887,634 (GRCm39) Y2477H probably damaging Het
Kcnh5 A G 12: 74,944,858 (GRCm39) V797A probably benign Het
Kptn T A 7: 15,859,710 (GRCm39) C311* probably null Het
Lpcat2 A T 8: 93,635,819 (GRCm39) N407I possibly damaging Het
Lrp1 T A 10: 127,375,503 (GRCm39) probably benign Het
Ovol2 C T 2: 144,159,780 (GRCm39) C120Y probably damaging Het
Pcdhac2 G T 18: 37,277,352 (GRCm39) E111* probably null Het
Pknox1 C T 17: 31,809,713 (GRCm39) P106S probably benign Het
Plet1 C T 9: 50,415,595 (GRCm39) T155I probably benign Het
Ppfia2 A G 10: 106,671,621 (GRCm39) K444R probably damaging Het
Prrc2c A T 1: 162,525,415 (GRCm39) I397N unknown Het
Ranbp1 A G 16: 18,065,151 (GRCm39) probably null Het
Raver2 T C 4: 100,960,182 (GRCm39) C221R probably damaging Het
Reps1 A G 10: 17,969,628 (GRCm39) T244A probably benign Het
Slc22a16 G A 10: 40,449,953 (GRCm39) V130I probably benign Het
Stmnd1 G A 13: 46,453,071 (GRCm39) S249N probably benign Het
Styx A G 14: 45,610,961 (GRCm39) probably null Het
Sult1b1 T G 5: 87,669,407 (GRCm39) N147T probably damaging Het
Tbc1d2 G A 4: 46,633,639 (GRCm39) probably benign Het
Tm4sf1 T G 3: 57,200,289 (GRCm39) I109L possibly damaging Het
Ufl1 T C 4: 25,256,010 (GRCm39) E423G probably benign Het
Unc13c T C 9: 73,840,654 (GRCm39) I66V probably benign Het
Wfdc10 C T 2: 164,499,060 (GRCm39) Q57* probably null Het
Zeb1os1 T C 18: 5,567,390 (GRCm39) noncoding transcript Het
Zfp369 A T 13: 65,426,847 (GRCm39) probably benign Het
Other mutations in Cts8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Cts8 APN 13 61,399,392 (GRCm39) missense probably damaging 1.00
IGL01343:Cts8 APN 13 61,397,010 (GRCm39) splice site probably benign
IGL01681:Cts8 APN 13 61,401,433 (GRCm39) missense probably benign 0.01
IGL02264:Cts8 APN 13 61,398,772 (GRCm39) missense probably damaging 1.00
IGL02686:Cts8 APN 13 61,398,784 (GRCm39) missense probably benign 0.09
IGL03196:Cts8 APN 13 61,401,272 (GRCm39) missense probably benign 0.05
R0123:Cts8 UTSW 13 61,401,391 (GRCm39) missense probably benign 0.01
R0630:Cts8 UTSW 13 61,401,256 (GRCm39) missense possibly damaging 0.71
R0856:Cts8 UTSW 13 61,398,730 (GRCm39) missense probably damaging 1.00
R0908:Cts8 UTSW 13 61,398,730 (GRCm39) missense probably damaging 1.00
R1932:Cts8 UTSW 13 61,401,429 (GRCm39) missense probably damaging 0.98
R2186:Cts8 UTSW 13 61,399,545 (GRCm39) missense probably damaging 1.00
R3103:Cts8 UTSW 13 61,398,772 (GRCm39) missense probably damaging 1.00
R3772:Cts8 UTSW 13 61,398,715 (GRCm39) splice site probably benign
R5432:Cts8 UTSW 13 61,398,826 (GRCm39) missense probably benign 0.00
R6088:Cts8 UTSW 13 61,401,780 (GRCm39) missense probably benign 0.01
R6298:Cts8 UTSW 13 61,397,037 (GRCm39) missense possibly damaging 0.77
R6501:Cts8 UTSW 13 61,398,756 (GRCm39) missense probably damaging 1.00
R7177:Cts8 UTSW 13 61,399,505 (GRCm39) missense possibly damaging 0.48
R7571:Cts8 UTSW 13 61,395,981 (GRCm39) missense probably damaging 1.00
R8293:Cts8 UTSW 13 61,401,882 (GRCm39) missense probably benign 0.03
R8748:Cts8 UTSW 13 61,397,086 (GRCm39) missense probably damaging 1.00
R8917:Cts8 UTSW 13 61,396,882 (GRCm39) intron probably benign
R9083:Cts8 UTSW 13 61,397,036 (GRCm39) missense probably damaging 1.00
R9803:Cts8 UTSW 13 61,401,136 (GRCm39) missense possibly damaging 0.50
RF008:Cts8 UTSW 13 61,397,102 (GRCm39) missense probably benign
X0062:Cts8 UTSW 13 61,398,822 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CACTCTGTGAGAAGGTGACC -3'
(R):5'- GAGTTTGACATAGACTGCATCAC -3'

Sequencing Primer
(F):5'- CTCTGTGAGAAGGTGACCAGAAAG -3'
(R):5'- GACTGATATTCCAGTCCCA -3'
Posted On 2016-06-21