Incidental Mutation 'R0845:Ctbs'
ID 77312
Institutional Source Beutler Lab
Gene Symbol Ctbs
Ensembl Gene ENSMUSG00000028189
Gene Name chitobiase
Synonyms 2210401K11Rik
MMRRC Submission 039024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0845 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146156204-146171604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146160862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 143 (L143Q)
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: L143Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
AA Change: L143Q

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: L143Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
AA Change: L143Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.2%
Validation Efficiency 96% (45/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 G T 7: 28,612,855 (GRCm39) A116E probably damaging Het
Adamtsl3 A G 7: 82,225,204 (GRCm39) I338V probably damaging Het
Akap13 T G 7: 75,375,128 (GRCm39) V1920G probably damaging Het
Atp6v0d2 C T 4: 19,880,055 (GRCm39) V281I probably benign Het
AW209491 T G 13: 14,811,607 (GRCm39) S153R probably damaging Het
Brd7 A T 8: 89,069,395 (GRCm39) Y433* probably null Het
Bub1b A G 2: 118,440,457 (GRCm39) H187R probably damaging Het
Clstn2 T A 9: 97,452,681 (GRCm39) Q242L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Comt T C 16: 18,226,711 (GRCm39) Y225C probably damaging Het
Ctsw T C 19: 5,515,489 (GRCm39) probably benign Het
Dhx16 T C 17: 36,194,194 (GRCm39) I435T probably damaging Het
Dmxl1 T C 18: 50,026,469 (GRCm39) F1859S probably damaging Het
Glud1 A G 14: 34,051,351 (GRCm39) probably benign Het
Gm8220 A G 14: 44,524,248 (GRCm39) H71R probably damaging Het
Gnb1l A G 16: 18,371,223 (GRCm39) E238G probably benign Het
H2-T23 T C 17: 36,341,475 (GRCm39) H332R probably benign Het
Itga5 T A 15: 103,259,196 (GRCm39) T744S probably benign Het
Larp1 A G 11: 57,938,576 (GRCm39) E453G probably benign Het
Lrrk2 C A 15: 91,640,165 (GRCm39) P1570Q probably benign Het
Lrsam1 C T 2: 32,843,455 (GRCm39) R150Q possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Msln T C 17: 25,969,770 (GRCm39) Y320C probably damaging Het
Mtbp T C 15: 55,426,486 (GRCm39) probably null Het
Muc5b A G 7: 141,404,183 (GRCm39) probably null Het
Mup21 A G 4: 62,068,547 (GRCm39) S40P probably damaging Het
Myh8 T C 11: 67,177,090 (GRCm39) V414A probably damaging Het
P2rx5 T C 11: 73,056,400 (GRCm39) I108T probably damaging Het
Paqr9 T C 9: 95,442,793 (GRCm39) L261P probably damaging Het
Pde5a A G 3: 122,522,980 (GRCm39) D29G probably benign Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pih1d1 A G 7: 44,809,106 (GRCm39) D230G probably benign Het
Pik3r1 G T 13: 101,822,772 (GRCm39) D643E probably benign Het
Rnf207 A G 4: 152,396,521 (GRCm39) probably benign Het
Septin9 T C 11: 117,247,151 (GRCm39) probably benign Het
Serinc1 A T 10: 57,401,479 (GRCm39) S105T probably benign Het
Slc8a1 A G 17: 81,745,177 (GRCm39) S676P probably benign Het
Srrm4 C T 5: 116,582,944 (GRCm39) probably null Het
Tcn2 T A 11: 3,869,349 (GRCm39) D391V probably benign Het
Tmem131 T C 1: 36,855,303 (GRCm39) T808A probably damaging Het
Ubqln3 G T 7: 103,791,275 (GRCm39) Q272K probably damaging Het
Unc79 T C 12: 103,139,703 (GRCm39) probably benign Het
Xpo6 G A 7: 125,728,715 (GRCm39) probably benign Het
Zfp667 A T 7: 6,309,091 (GRCm39) K586N possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACATTATGCTCTCTTTGGGAGTGGC -3'
(R):5'- GTGACACAGTTCCCTAGCACTAACC -3'

Sequencing Primer
(F):5'- CTTTGGGAAGTAAACGGTTTTACC -3'
(R):5'- GTAAAAGCCAGTTTAGGCCCTC -3'
Posted On 2013-10-16