Incidental Mutation 'IGL03092:Ctsg'
ID 418416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsg
Ensembl Gene ENSMUSG00000040314
Gene Name cathepsin G
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03092
Quality Score
Status
Chromosome 14
Chromosomal Location 56337342-56340031 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 56337417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Leucine at position 262 (*262L)
Ref Sequence ENSEMBL: ENSMUSP00000015583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015583]
AlphaFold P28293
Predicted Effect probably null
Transcript: ENSMUST00000015583
AA Change: *262L
SMART Domains Protein: ENSMUSP00000015583
Gene: ENSMUSG00000040314
AA Change: *262L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 238 5.65e-83 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225312
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase S1 (chymotrypsin) family of serine endopeptidases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product appears to play a role in host defense, including inflammation and antigen processing. Homozygous knockout mice for this gene exhibit enhanced susceptibility to bacterial and fungal infection. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection induced mortality but increased susceptibility to mortality induced by fungal infection. Mice either homozygous or heterozygous for a knock-in allele develop an abrupt onset, rapidly fatal acute leukemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G probably damaging Het
Other mutations in Ctsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Ctsg APN 14 56,339,869 (GRCm39) missense probably benign
R0032:Ctsg UTSW 14 56,339,196 (GRCm39) missense probably damaging 1.00
R0032:Ctsg UTSW 14 56,339,196 (GRCm39) missense probably damaging 1.00
R1777:Ctsg UTSW 14 56,338,058 (GRCm39) missense probably damaging 1.00
R5141:Ctsg UTSW 14 56,339,184 (GRCm39) nonsense probably null
R6376:Ctsg UTSW 14 56,339,110 (GRCm39) nonsense probably null
R7097:Ctsg UTSW 14 56,337,489 (GRCm39) missense probably damaging 0.98
R7508:Ctsg UTSW 14 56,337,998 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02