Incidental Mutation 'IGL00428:Ctsq'
ID 5930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsq
Ensembl Gene ENSMUSG00000021439
Gene Name cathepsin Q
Synonyms 1600010J02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL00428
Quality Score
Status
Chromosome 13
Chromosomal Location 61182852-61188411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61185528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 204 (N204K)
Ref Sequence ENSEMBL: ENSMUSP00000021888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021888]
AlphaFold Q91ZF4
Predicted Effect probably damaging
Transcript: ENSMUST00000021888
AA Change: N204K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: N204K

DomainStartEndE-ValueType
Inhibitor_I29 29 88 3.76e-24 SMART
Pept_C1 125 342 3.46e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144401
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G A 10: 14,343,119 (GRCm39) P276L probably benign Het
Asap1 G A 15: 63,991,803 (GRCm39) probably benign Het
Axl T C 7: 25,460,297 (GRCm39) T723A probably damaging Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bltp1 A G 3: 37,065,876 (GRCm39) N3491S probably benign Het
Capn7 A G 14: 31,085,535 (GRCm39) K503E probably benign Het
Cbln4 A G 2: 171,880,970 (GRCm39) V108A probably benign Het
Ccdc71 C T 9: 108,341,354 (GRCm39) T389M probably damaging Het
Ccdc91 A G 6: 147,508,452 (GRCm39) T393A unknown Het
Cdh20 A T 1: 104,881,612 (GRCm39) H359L probably benign Het
Cfap119 A T 7: 127,184,210 (GRCm39) S229T probably damaging Het
Coro7 C T 16: 4,452,500 (GRCm39) V364M possibly damaging Het
Dnaja3 C T 16: 4,512,309 (GRCm39) R238C probably damaging Het
Dynlt1a C T 17: 6,362,062 (GRCm39) V39I possibly damaging Het
Gp1ba A G 11: 70,531,478 (GRCm39) probably benign Het
Gtf3c3 T C 1: 54,455,114 (GRCm39) Y583C probably damaging Het
Invs T C 4: 48,402,909 (GRCm39) F514S probably damaging Het
Kif23 A T 9: 61,833,750 (GRCm39) C484S probably benign Het
Masp1 A G 16: 23,295,062 (GRCm39) Y400H probably damaging Het
Olfml3 G A 3: 103,644,298 (GRCm39) probably null Het
Pard3b T C 1: 62,200,357 (GRCm39) S299P probably damaging Het
Pcdhb16 A T 18: 37,611,623 (GRCm39) E194D possibly damaging Het
Pip5k1c A T 10: 81,141,545 (GRCm39) T78S probably benign Het
Septin11 T C 5: 93,304,877 (GRCm39) probably null Het
Septin8 A G 11: 53,422,823 (GRCm39) N11D probably benign Het
Slc10a6 G A 5: 103,760,362 (GRCm39) T211I probably benign Het
Smim8 T C 4: 34,769,006 (GRCm39) T93A probably benign Het
Tg A G 15: 66,645,273 (GRCm39) I774M probably benign Het
Tulp4 A G 17: 6,189,351 (GRCm39) T58A probably damaging Het
Virma T C 4: 11,519,424 (GRCm39) probably benign Het
Wdr62 T C 7: 29,970,177 (GRCm39) D210G probably damaging Het
Zfp984 C T 4: 147,839,343 (GRCm39) G503S probably benign Het
Other mutations in Ctsq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Ctsq APN 13 61,184,941 (GRCm39) missense probably benign 0.00
IGL00743:Ctsq APN 13 61,183,998 (GRCm39) missense probably damaging 1.00
IGL00897:Ctsq APN 13 61,185,539 (GRCm39) missense probably damaging 1.00
IGL01679:Ctsq APN 13 61,186,722 (GRCm39) missense probably benign 0.00
IGL01982:Ctsq APN 13 61,187,335 (GRCm39) missense probably benign 0.05
IGL01982:Ctsq APN 13 61,186,732 (GRCm39) missense probably benign
IGL02448:Ctsq APN 13 61,184,044 (GRCm39) missense probably damaging 1.00
R0036:Ctsq UTSW 13 61,185,485 (GRCm39) critical splice donor site probably null
R0036:Ctsq UTSW 13 61,185,485 (GRCm39) critical splice donor site probably null
R0741:Ctsq UTSW 13 61,184,019 (GRCm39) missense probably damaging 0.99
R1192:Ctsq UTSW 13 61,186,859 (GRCm39) missense probably damaging 1.00
R1593:Ctsq UTSW 13 61,183,986 (GRCm39) splice site probably null
R3906:Ctsq UTSW 13 61,186,585 (GRCm39) missense probably damaging 1.00
R4483:Ctsq UTSW 13 61,186,726 (GRCm39) missense probably benign 0.01
R4590:Ctsq UTSW 13 61,184,028 (GRCm39) missense probably benign 0.17
R5157:Ctsq UTSW 13 61,184,913 (GRCm39) missense probably benign 0.00
R5365:Ctsq UTSW 13 61,185,632 (GRCm39) missense possibly damaging 0.95
R5366:Ctsq UTSW 13 61,184,913 (GRCm39) missense probably benign 0.00
R5546:Ctsq UTSW 13 61,185,702 (GRCm39) nonsense probably null
R5595:Ctsq UTSW 13 61,184,874 (GRCm39) missense probably benign 0.41
R6046:Ctsq UTSW 13 61,186,955 (GRCm39) missense probably benign 0.00
R6049:Ctsq UTSW 13 61,186,572 (GRCm39) critical splice donor site probably null
R6535:Ctsq UTSW 13 61,183,140 (GRCm39) missense probably damaging 1.00
R6537:Ctsq UTSW 13 61,183,140 (GRCm39) missense probably damaging 1.00
R7159:Ctsq UTSW 13 61,186,737 (GRCm39) missense probably benign 0.00
R8189:Ctsq UTSW 13 61,184,969 (GRCm39) missense probably damaging 1.00
R8890:Ctsq UTSW 13 61,185,502 (GRCm39) missense probably damaging 1.00
Z1176:Ctsq UTSW 13 61,184,937 (GRCm39) missense probably benign 0.01
Z1177:Ctsq UTSW 13 61,184,910 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20