Incidental Mutation 'IGL03092:Ctsg'
ID418416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsg
Ensembl Gene ENSMUSG00000040314
Gene Namecathepsin G
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03092
Quality Score
Status
Chromosome14
Chromosomal Location56099881-56102574 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 56099960 bp
ZygosityHeterozygous
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]
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: 124,406,470 L491P probably damaging Het
5430419D17Rik G T 7: 131,201,798 probably null Het
Abcc6 T A 7: 45,986,470 D1051V probably damaging Het
Aqr T A 2: 114,158,943 E133V probably benign Het
Bag6 A G 17: 35,145,627 N911D probably damaging Het
BC024978 T C 7: 27,201,136 M180T probably damaging Het
Ces4a C T 8: 105,148,204 probably benign Het
Clec3b A T 9: 123,151,035 probably benign Het
Cnot1 T C 8: 95,769,615 probably benign Het
Cyp17a1 T A 19: 46,672,611 H78L possibly damaging Het
Dcaf13 C A 15: 39,127,976 probably benign Het
Dcun1d1 G T 3: 35,920,992 Q52K possibly damaging Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dock1 A G 7: 134,765,216 probably benign Het
Dsel A G 1: 111,860,063 L914P probably damaging Het
Fbxo31 A G 8: 121,560,018 F174L probably benign Het
Gm9116 A G 3: 93,910,206 noncoding transcript Het
Gspt1 C T 16: 11,238,899 V211I probably benign Het
Hmgb1 A T 5: 149,050,698 S14T probably benign Het
Igsf8 A G 1: 172,312,529 probably benign Het
Klf13 A G 7: 63,891,669 F237L probably damaging Het
Mon2 A T 10: 123,018,100 I962N probably damaging Het
Nfx1 A G 4: 41,024,851 D1108G probably damaging Het
Nr2e1 T C 10: 42,571,482 Y178C probably damaging Het
Olfr1426 C A 19: 12,087,866 E309* probably null Het
Olfr646 A T 7: 104,106,647 I123F probably damaging Het
Pde3b A T 7: 114,523,348 H717L probably damaging Het
Polr1b T C 2: 129,123,129 Y712H probably damaging Het
Pramef25 C A 4: 143,950,197 K112N probably damaging Het
Rnf157 T A 11: 116,347,969 probably null Het
Ros1 T C 10: 52,098,806 E1561G probably damaging Het
Serpina6 A G 12: 103,653,895 probably null Het
St18 A G 1: 6,768,894 probably benign Het
Ugp2 A G 11: 21,329,722 probably benign Het
Vmn1r70 T C 7: 10,634,259 S225P probably benign Het
Zfp641 T C 15: 98,290,516 D161G probably damaging Het
Other mutations in Ctsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Ctsg APN 14 56102412 missense probably benign
R0032:Ctsg UTSW 14 56101739 missense probably damaging 1.00
R0032:Ctsg UTSW 14 56101739 missense probably damaging 1.00
R1777:Ctsg UTSW 14 56100601 missense probably damaging 1.00
R5141:Ctsg UTSW 14 56101727 nonsense probably null
R6376:Ctsg UTSW 14 56101653 nonsense probably null
R7097:Ctsg UTSW 14 56100032 missense probably damaging 0.98
R7508:Ctsg UTSW 14 56100541 critical splice donor site probably null
Posted On2016-08-02