Incidental Mutation 'R4194:Ctbs'
ID 318471
Institutional Source Beutler Lab
Gene Symbol Ctbs
Ensembl Gene ENSMUSG00000028189
Gene Name chitobiase
Synonyms 2210401K11Rik
MMRRC Submission 041025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4194 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146156204-146171604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 146156368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 38 (H38N)
Ref Sequence ENSEMBL: ENSMUSP00000059167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029840] [ENSMUST00000061937] [ENSMUST00000196609]
AlphaFold Q8R242
Predicted Effect probably benign
Transcript: ENSMUST00000029840
AA Change: H38N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
AA Change: H38N

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: H38N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
AA Change: H38N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Glyco_18 45 343 2.62e-21 SMART
Predicted Effect unknown
Transcript: ENSMUST00000196609
AA Change: H38N
SMART Domains Protein: ENSMUSP00000142380
Gene: ENSMUSG00000028189
AA Change: H38N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197166
Meta Mutation Damage Score 0.2325 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 85,972,245 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,647,115 (GRCm39) V3142F probably damaging Het
Alms1 C T 6: 85,654,972 (GRCm39) Q3173* probably null Het
Ankrd26 A G 6: 118,500,639 (GRCm39) F944S probably benign Het
Arhgap11a G T 2: 113,672,339 (GRCm39) H210N probably benign Het
Brca1 T C 11: 101,416,113 (GRCm39) N674D probably benign Het
Bud13 T A 9: 46,209,793 (GRCm39) V634E probably damaging Het
Capn13 C T 17: 73,646,479 (GRCm39) M311I possibly damaging Het
Cdyl2 T C 8: 117,305,903 (GRCm39) probably null Het
Celsr3 T C 9: 108,720,501 (GRCm39) probably null Het
Col6a5 C G 9: 105,823,113 (GRCm39) E81D unknown Het
Ctnnd1 T C 2: 84,434,045 (GRCm39) D897G possibly damaging Het
Cyp2d41-ps T C 15: 82,666,154 (GRCm39) noncoding transcript Het
Dnttip2 G A 3: 122,074,410 (GRCm39) E616K probably damaging Het
Epb41l5 A T 1: 119,535,823 (GRCm39) S348R probably damaging Het
Fam185a A G 5: 21,630,452 (GRCm39) H96R probably benign Het
Fbxo11 T C 17: 88,316,536 (GRCm39) D279G possibly damaging Het
Gm3952 C A 8: 129,486,346 (GRCm39) G1578V probably damaging Het
Grb7 T A 11: 98,345,881 (GRCm39) probably benign Het
Grik1 A G 16: 87,743,616 (GRCm39) V537A probably benign Het
H2-Eb2 T A 17: 34,552,300 (GRCm39) N48K probably benign Het
Kank3 A G 17: 34,041,237 (GRCm39) probably benign Het
Kifap3 T C 1: 163,743,394 (GRCm39) S792P probably benign Het
Klhl35 A T 7: 99,123,058 (GRCm39) probably null Het
Lpxn T C 19: 12,810,599 (GRCm39) F348L probably damaging Het
Mef2d A G 3: 88,065,610 (GRCm39) Y114C possibly damaging Het
Mfap3 T A 11: 57,420,529 (GRCm39) L170H probably damaging Het
Mical1 C G 10: 41,357,624 (GRCm39) F410L possibly damaging Het
Mppe1 G A 18: 67,361,139 (GRCm39) S206F probably benign Het
Myo9b C T 8: 71,812,268 (GRCm39) A2013V possibly damaging Het
Phactr3 T C 2: 177,924,902 (GRCm39) V243A possibly damaging Het
Ppp4r4 T C 12: 103,524,704 (GRCm39) L92P probably damaging Het
Prss59 A T 6: 40,898,005 (GRCm39) V226E probably damaging Het
Rap1gds1 C T 3: 138,664,851 (GRCm39) D236N probably damaging Het
Rnf8 T C 17: 29,850,642 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,434 (GRCm39) noncoding transcript Het
Sfta2 T C 17: 35,939,057 (GRCm39) probably null Het
Sipa1l2 T A 8: 126,218,411 (GRCm39) T309S probably benign Het
Sos1 T C 17: 80,706,013 (GRCm39) D1186G probably benign Het
Sptb C A 12: 76,659,784 (GRCm39) V1039F probably benign Het
Sycp3 T C 10: 88,299,237 (GRCm39) V68A probably benign Het
Tas1r3 T C 4: 155,947,442 (GRCm39) E81G probably damaging Het
Ttc3 G A 16: 94,223,136 (GRCm39) R253H probably damaging Het
Ugt1a7c A G 1: 88,023,449 (GRCm39) T203A possibly damaging Het
Vtcn1 A T 3: 100,795,525 (GRCm39) E164V probably damaging Het
Zan T C 5: 137,461,817 (GRCm39) T1121A unknown Het
Zfp473 T C 7: 44,381,676 (GRCm39) I885V probably benign Het
Zfp990 A T 4: 145,263,547 (GRCm39) probably null Het
Other mutations in Ctbs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Ctbs APN 3 146,160,867 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- TCCGTTTAGCATCAGGCCAC -3'
(R):5'- GAATCTGATGAGGCAGGAGCATTAC -3'

Sequencing Primer
(F):5'- TCAGCAGAGACTCCGCC -3'
(R):5'- AGCATTACACAGTCTGCGG -3'
Posted On 2015-06-10