Incidental Mutation 'R6607:Ctbs'
| ID |
525729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctbs
|
| Ensembl Gene |
ENSMUSG00000028189 |
| Gene Name |
chitobiase |
| Synonyms |
2210401K11Rik |
| MMRRC Submission |
044730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6607 (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 146163128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 172
(D172G)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000029840
AA Change: D172G
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_18
|
79 |
257 |
1.6e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061937
AA Change: D172G
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.3781 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (27/28) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,507 (GRCm39) |
D92G |
possibly damaging |
Het |
| Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
| Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
| Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
| Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
| Esyt2 |
G |
A |
12: 116,332,360 (GRCm39) |
D781N |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,270 (GRCm39) |
T106S |
possibly damaging |
Het |
| Foxq1 |
A |
G |
13: 31,743,129 (GRCm39) |
D77G |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
| Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
| Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Rbks |
C |
T |
5: 31,805,136 (GRCm39) |
V243M |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,891 (GRCm39) |
Y224C |
probably benign |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
| Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
possibly damaging |
Het |
|
| Other mutations in Ctbs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TCCAGTTATAGACACAGGCCAG -3'
(R):5'- CACCTTAGTGCCTGAGGTTTTG -3'
Sequencing Primer
(F):5'- GTTATAGACACAGGCCAGTCCAATG -3'
(R):5'- GGCTGCAATACATTCTGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation