Incidental Mutation 'IGL01679:Ctsq'
ID103731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsq
Ensembl Gene ENSMUSG00000021439
Gene Namecathepsin Q
Synonyms1600010J02Rik
Accession Numbers

Ncbi RefSeq: NM_029636.3; MGI:2137385

Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01679
Quality Score
Status
Chromosome13
Chromosomal Location61035024-61040631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61038908 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 94 (G94D)
Ref Sequence ENSEMBL: ENSMUSP00000021888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021888]
Predicted Effect probably benign
Transcript: ENSMUST00000021888
AA Change: G94D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: G94D

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,298,071 M2606K probably benign Het
Abl2 A G 1: 156,642,465 I1100V probably benign Het
Atp2a1 T C 7: 126,456,809 N280S probably benign Het
Car8 G A 4: 8,169,674 T278I possibly damaging Het
Catsperb G A 12: 101,591,582 probably null Het
Cmya5 T C 13: 93,065,320 E3378G probably damaging Het
Entpd8 A G 2: 25,084,366 K388E probably benign Het
Gab1 C T 8: 80,791,549 A145T probably benign Het
Gbp9 T C 5: 105,085,172 probably null Het
Gm6685 T C 11: 28,339,586 T77A possibly damaging Het
Gm8787 A G X: 79,332,833 Y266H probably damaging Het
Ick T C 9: 78,140,025 I69T possibly damaging Het
Miga2 A G 2: 30,378,250 K387R probably benign Het
Myo1g A G 11: 6,518,006 V143A possibly damaging Het
Pi4ka A G 16: 17,296,888 probably benign Het
Plekhg6 T C 6: 125,374,979 T201A probably benign Het
Pxdn T C 12: 29,999,902 S650P probably damaging Het
Rplp2 T G 7: 141,448,766 I55S probably damaging Het
Sdk1 A G 5: 142,046,164 D998G probably benign Het
Slc13a2 C A 11: 78,404,711 A110S probably damaging Het
Slc38a2 A T 15: 96,697,954 Y94* probably null Het
Smarcc1 A G 9: 110,213,530 R889G probably damaging Het
Tie1 T C 4: 118,482,739 T364A probably benign Het
Zfp655 A G 5: 145,243,827 E165G probably damaging Het
Other mutations in Ctsq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Ctsq APN 13 61037714 missense probably damaging 0.96
IGL00585:Ctsq APN 13 61037127 missense probably benign 0.00
IGL00743:Ctsq APN 13 61036184 missense probably damaging 1.00
IGL00897:Ctsq APN 13 61037725 missense probably damaging 1.00
IGL01982:Ctsq APN 13 61038918 missense probably benign
IGL01982:Ctsq APN 13 61039521 missense probably benign 0.05
IGL02448:Ctsq APN 13 61036230 missense probably damaging 1.00
R0036:Ctsq UTSW 13 61037671 critical splice donor site probably null
R0036:Ctsq UTSW 13 61037671 critical splice donor site probably null
R0741:Ctsq UTSW 13 61036205 missense probably damaging 0.99
R1192:Ctsq UTSW 13 61039045 missense probably damaging 1.00
R1593:Ctsq UTSW 13 61036172 splice site probably null
R3906:Ctsq UTSW 13 61038771 missense probably damaging 1.00
R4483:Ctsq UTSW 13 61038912 missense probably benign 0.01
R4590:Ctsq UTSW 13 61036214 missense probably benign 0.17
R5157:Ctsq UTSW 13 61037099 missense probably benign 0.00
R5365:Ctsq UTSW 13 61037818 missense possibly damaging 0.95
R5366:Ctsq UTSW 13 61037099 missense probably benign 0.00
R5546:Ctsq UTSW 13 61037888 nonsense probably null
R5595:Ctsq UTSW 13 61037060 missense probably benign 0.41
R6046:Ctsq UTSW 13 61039141 missense probably benign 0.00
R6049:Ctsq UTSW 13 61038758 critical splice donor site probably null
R6535:Ctsq UTSW 13 61035326 missense probably damaging 1.00
R6537:Ctsq UTSW 13 61035326 missense probably damaging 1.00
R7159:Ctsq UTSW 13 61038923 missense probably benign 0.00
R8189:Ctsq UTSW 13 61037155 missense probably damaging 1.00
Z1176:Ctsq UTSW 13 61037123 missense probably benign 0.01
Z1177:Ctsq UTSW 13 61037096 missense probably damaging 1.00
Posted On2014-01-21