Incidental Mutation 'R7446:Ctbs'
ID 577280
Institutional Source Beutler Lab
Gene Symbol Ctbs
Ensembl Gene ENSMUSG00000028189
Gene Name chitobiase
Synonyms 2210401K11Rik
MMRRC Submission 045522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7446 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 146156204-146171604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146164573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 242 (Y242C)
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 damaging
Transcript: ENSMUST00000029840
AA Change: Y242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
AA Change: Y242C

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:Glyco_hydro_18 79 257 1.6e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000061937
AA Change: Y242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
AA Change: Y242C

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 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
Meta Mutation Damage Score 0.9723 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,950,441 (GRCm39) D1446G probably benign Het
Adgrg1 A G 8: 95,738,412 (GRCm39) Y635C probably damaging Het
Akr1cl G A 1: 65,055,837 (GRCm39) R222W probably damaging Het
C2 G A 17: 35,094,986 (GRCm39) R250C probably damaging Het
Cdk15 A G 1: 59,328,854 (GRCm39) Y254C probably damaging Het
Celsr1 T C 15: 85,791,874 (GRCm39) T2576A possibly damaging Het
Cfap61 C T 2: 145,995,758 (GRCm39) R1108C probably benign Het
Clca3a1 A G 3: 144,733,188 (GRCm39) S107P possibly damaging Het
Cplane1 A G 15: 8,261,564 (GRCm39) D2460G probably damaging Het
Cpsf1 A G 15: 76,485,950 (GRCm39) S407P probably benign Het
Crisp4 T C 1: 18,192,962 (GRCm39) T252A probably damaging Het
Cul4a A G 8: 13,186,874 (GRCm39) T537A probably benign Het
D930020B18Rik T C 10: 121,503,650 (GRCm39) I275T possibly damaging Het
Dcaf7 T C 11: 105,944,561 (GRCm39) V248A probably benign Het
Def8 T C 8: 124,181,061 (GRCm39) C153R probably damaging Het
Dennd1a A T 2: 37,706,991 (GRCm39) V505D possibly damaging Het
Dpysl5 A C 5: 30,936,231 (GRCm39) D207A probably benign Het
Dync2h1 A T 9: 7,041,720 (GRCm39) S3307R probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Erf A T 7: 24,945,556 (GRCm39) C72S probably damaging Het
Fastkd3 A T 13: 68,740,079 (GRCm39) H47L unknown Het
Gm5591 C T 7: 38,218,933 (GRCm39) E647K probably benign Het
Gng12 TGTCCAGCAAG TG 6: 66,992,736 (GRCm39) probably benign Het
Guk1 T C 11: 59,076,850 (GRCm39) T78A probably benign Het
Hephl1 T C 9: 15,009,347 (GRCm39) T82A probably damaging Het
Htra4 A G 8: 25,527,181 (GRCm39) S205P probably benign Het
Jakmip2 T C 18: 43,710,390 (GRCm39) D271G probably damaging Het
Krt16 CAGTATCTG C 11: 100,137,610 (GRCm39) probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Lrp2 C A 2: 69,262,557 (GRCm39) G4415W probably damaging Het
Lrp2 C T 2: 69,290,018 (GRCm39) R3607H probably damaging Het
Mcph1 A G 8: 18,721,109 (GRCm39) K646E probably benign Het
Mgam T C 6: 40,723,266 (GRCm39) L457P probably damaging Het
Mink1 T A 11: 70,500,455 (GRCm39) S802T probably benign Het
Mrgprb5 C T 7: 47,818,252 (GRCm39) G161E possibly damaging Het
Mroh1 G A 15: 76,336,472 (GRCm39) G1565D possibly damaging Het
Mynn A G 3: 30,661,201 (GRCm39) K51R probably benign Het
Myo1b A G 1: 51,803,065 (GRCm39) F872S possibly damaging Het
Nbas A T 12: 13,443,499 (GRCm39) T1185S probably benign Het
Oas1d A T 5: 121,058,054 (GRCm39) I333L probably benign Het
Or10ak9 A T 4: 118,726,019 (GRCm39) I14F possibly damaging Het
Or4d10 A G 19: 12,051,061 (GRCm39) *312Q probably null Het
P2ry12 A G 3: 59,124,632 (GRCm39) *348Q probably null Het
Pik3cb A T 9: 98,928,711 (GRCm39) V848E probably damaging Het
Plcz1 A C 6: 139,959,312 (GRCm39) S282A possibly damaging Het
Prss46 A G 9: 110,679,189 (GRCm39) D130G probably damaging Het
Pygl T C 12: 70,243,784 (GRCm39) I644V probably benign Het
Ralgds T A 2: 28,435,901 (GRCm39) S509T probably damaging Het
Rdh16f2 A G 10: 127,712,767 (GRCm39) D255G probably benign Het
Scaf4 T C 16: 90,055,658 (GRCm39) D133G unknown Het
Sdk1 G A 5: 142,130,731 (GRCm39) S1630N probably damaging Het
Sema5b C T 16: 35,467,573 (GRCm39) T279I probably damaging Het
Slc24a3 T A 2: 145,422,902 (GRCm39) L207H probably damaging Het
Speer2 A T 16: 69,654,965 (GRCm39) S167T possibly damaging Het
Spock1 A G 13: 57,583,898 (GRCm39) I339T unknown Het
Srsf6 T A 2: 162,776,636 (GRCm39) S327T unknown Het
Syne1 T A 10: 5,172,266 (GRCm39) E5058D probably benign Het
Tcf19 A G 17: 35,825,428 (GRCm39) V243A probably benign Het
Tspan15 T C 10: 62,029,734 (GRCm39) D122G probably benign Het
Ttc17 C T 2: 94,205,495 (GRCm39) V284M probably damaging Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Uspl1 T A 5: 149,141,082 (GRCm39) C360* probably null Het
Vmn1r181 A C 7: 23,684,356 (GRCm39) S274R probably benign Het
Xrcc5 T C 1: 72,433,132 (GRCm39) probably null Het
Zfp277 C T 12: 40,378,729 (GRCm39) R376H probably damaging Het
Zfp629 T C 7: 127,210,201 (GRCm39) E536G probably benign 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
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
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'- GCAACCTTAAGATTTGGCATGGTTG -3'
(R):5'- GGCATTCAGAAACTGCCATGATAG -3'

Sequencing Primer
(F):5'- GGTTGCCCCAGATTGTATGTAC -3'
(R):5'- CACCTTTAATTCTAGCACTTGGGAGG -3'
Posted On 2019-10-07