Incidental Mutation 'IGL01618:Ctbs'
ID 92469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctbs
Ensembl Gene ENSMUSG00000028189
Gene Name chitobiase
Synonyms 2210401K11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01618
Quality Score
Status
Chromosome 3
Chromosomal Location 146156204-146171604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146160867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 145 (K145E)
Ref Sequence ENSEMBL: ENSMUSP00000059167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000029840] [ENSMUST00000061937] [ENSMUST00000196609] [ENSMUST00000197980]
AlphaFold Q8R242
Predicted Effect probably benign
Transcript: ENSMUST00000029839
SMART Domains Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:SPATA1_C 279 428 1.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029840
AA Change: K145E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
AA Change: K145E

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:Glyco_hydro_18 79 257 1.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061937
AA Change: K145E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
AA Change: K145E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Glyco_18 45 343 2.62e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196609
SMART Domains Protein: ENSMUSP00000142380
Gene: ENSMUSG00000028189

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197166
Predicted Effect probably benign
Transcript: ENSMUST00000197980
SMART Domains Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
SCOP:d1eq1a_ 267 365 8e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200488
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of oligosaccharides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,261,265 (GRCm39) A74V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1a3 G A 7: 66,058,978 (GRCm39) T239I probably damaging Het
Anxa9 A G 3: 95,207,847 (GRCm39) probably null Het
Atp5me C A 5: 108,581,899 (GRCm39) K28N probably damaging Het
C9 T G 15: 6,489,149 (GRCm39) Y169D probably benign Het
Chat T A 14: 32,168,849 (GRCm39) probably null Het
Csmd3 C T 15: 47,874,479 (GRCm39) E706K probably benign Het
Dennd5a A G 7: 109,533,302 (GRCm39) M156T probably damaging Het
Dhx29 A G 13: 113,101,756 (GRCm39) Y1275C probably damaging Het
Dpp10 A T 1: 123,295,596 (GRCm39) F517Y probably benign Het
Dst G A 1: 34,227,990 (GRCm39) W1536* probably null Het
Galc T C 12: 98,218,340 (GRCm39) T171A possibly damaging Het
Gsap T C 5: 21,431,246 (GRCm39) I190T probably damaging Het
Hars2 A T 18: 36,922,630 (GRCm39) R388* probably null Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Jhy G T 9: 40,872,260 (GRCm39) T83K possibly damaging Het
Kcne4 A T 1: 78,795,525 (GRCm39) M58L possibly damaging Het
Lamc3 T A 2: 31,802,119 (GRCm39) I509N probably damaging Het
Lpar6 T C 14: 73,476,506 (GRCm39) S156P probably damaging Het
Man2c1 T C 9: 57,048,840 (GRCm39) probably benign Het
Marchf11 T C 15: 26,409,285 (GRCm39) I328T possibly damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Muc4 A T 16: 32,577,001 (GRCm39) Q2167L unknown Het
Myom1 T C 17: 71,406,988 (GRCm39) V1135A possibly damaging Het
Nectin1 C T 9: 43,702,555 (GRCm39) R101* probably null Het
Nxpe4 T C 9: 48,305,440 (GRCm39) S277P possibly damaging Het
Or1e35 T C 11: 73,798,303 (GRCm39) N5S probably damaging Het
Or2a52 T A 6: 43,144,637 (GRCm39) V215E probably damaging Het
Or52r1c G A 7: 102,735,582 (GRCm39) V281I probably benign Het
Or5b106 T A 19: 13,123,614 (GRCm39) K136N probably benign Het
Or5w19 A C 2: 87,698,488 (GRCm39) D51A probably damaging Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Prepl A G 17: 85,373,709 (GRCm39) V586A probably damaging Het
Prrc2a T C 17: 35,368,529 (GRCm39) Y2098C probably damaging Het
Rdh16 G A 10: 127,637,176 (GRCm39) C37Y probably damaging Het
Rnd1 A T 15: 98,571,746 (GRCm39) M100K probably benign Het
Sema3c A G 5: 17,877,504 (GRCm39) N204D probably damaging Het
Susd4 A G 1: 182,686,026 (GRCm39) probably null Het
Taar7f G T 10: 23,926,239 (GRCm39) A278S possibly damaging Het
Tle4 T A 19: 14,522,178 (GRCm39) M122L probably benign Het
Trim9 C T 12: 70,295,125 (GRCm39) V662I probably benign Het
Vmn2r10 C A 5: 109,150,345 (GRCm39) C233F probably damaging Het
Vmn2r98 A C 17: 19,285,521 (GRCm39) T114P possibly damaging Het
Zfyve21 C T 12: 111,794,247 (GRCm39) probably benign Het
Zng1 T C 19: 24,918,140 (GRCm39) E210G possibly damaging Het
Other mutations in Ctbs
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0133:Ctbs UTSW 3 146,163,223 (GRCm39) missense probably benign 0.01
R0845:Ctbs UTSW 3 146,160,862 (GRCm39) missense probably damaging 1.00
R1512:Ctbs UTSW 3 146,160,720 (GRCm39) missense probably benign 0.00
R1523:Ctbs UTSW 3 146,160,735 (GRCm39) missense probably benign 0.01
R4194:Ctbs UTSW 3 146,156,368 (GRCm39) missense probably benign 0.00
R6607:Ctbs UTSW 3 146,163,128 (GRCm39) missense possibly damaging 0.60
R6739:Ctbs UTSW 3 146,165,254 (GRCm39) splice site probably null
R7021:Ctbs UTSW 3 146,160,703 (GRCm39) missense probably damaging 1.00
R7361:Ctbs UTSW 3 146,164,509 (GRCm39) missense probably damaging 1.00
R7446:Ctbs UTSW 3 146,164,573 (GRCm39) missense probably damaging 1.00
R8515:Ctbs UTSW 3 146,164,568 (GRCm39) nonsense probably null
R8766:Ctbs UTSW 3 146,165,588 (GRCm39) missense possibly damaging 0.90
R8915:Ctbs UTSW 3 146,169,724 (GRCm39) missense probably benign 0.00
R9280:Ctbs UTSW 3 146,160,142 (GRCm39) missense probably damaging 1.00
R9787:Ctbs UTSW 3 146,160,109 (GRCm39) missense probably damaging 0.97
R9801:Ctbs UTSW 3 146,169,679 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09