Incidental Mutation 'R6739:Ctbs'
| ID |
543584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctbs
|
| Ensembl Gene |
ENSMUSG00000028189 |
| Gene Name |
chitobiase |
| Synonyms |
2210401K11Rik |
| MMRRC Submission |
044857-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6739 (G1)
|
| Quality Score |
117.008 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
146156204-146171604 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 146165254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029839]
[ENSMUST00000029840]
[ENSMUST00000061937]
[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 |
probably benign
Transcript: ENSMUST00000029840
|
| SMART Domains |
Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
| 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 |
probably null
Transcript: ENSMUST00000061937
|
| SMART Domains |
Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
| 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: 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (33/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,658 (GRCm39) |
V14A |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,873,643 (GRCm39) |
N59K |
probably damaging |
Het |
| Ano4 |
T |
C |
10: 88,863,114 (GRCm39) |
Y286C |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,885,543 (GRCm39) |
H545Y |
possibly damaging |
Het |
| Arid1a |
T |
A |
4: 133,414,937 (GRCm39) |
S1152C |
unknown |
Het |
| Cfap73 |
T |
C |
5: 120,768,258 (GRCm39) |
T167A |
probably benign |
Het |
| Dmgdh |
T |
A |
13: 93,857,123 (GRCm39) |
N742K |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,011,313 (GRCm39) |
S1157P |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,305,352 (GRCm39) |
N14S |
probably damaging |
Het |
| Dpp4 |
C |
T |
2: 62,217,439 (GRCm39) |
V53I |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,246 (GRCm39) |
N329S |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,699 (GRCm39) |
V327A |
probably benign |
Het |
| Gsg1 |
T |
A |
6: 135,214,612 (GRCm39) |
Q299L |
probably damaging |
Het |
| Igsf23 |
A |
G |
7: 19,678,673 (GRCm39) |
L39P |
probably damaging |
Het |
| Il17rd |
A |
G |
14: 26,821,488 (GRCm39) |
R261G |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,479,503 (GRCm39) |
D276N |
probably benign |
Het |
| Lox |
T |
C |
18: 52,660,031 (GRCm39) |
T268A |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,481,568 (GRCm39) |
S825G |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,084,850 (GRCm39) |
D243G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,018 (GRCm39) |
Y219H |
probably damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,564 (GRCm39) |
V210E |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,825,916 (GRCm39) |
T131N |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,160,522 (GRCm39) |
L781H |
probably damaging |
Het |
| Proz |
A |
T |
8: 13,123,451 (GRCm39) |
I241F |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,333,097 (GRCm39) |
C2769S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,913,836 (GRCm39) |
I1076T |
possibly damaging |
Het |
| Snrnp70 |
A |
T |
7: 45,036,843 (GRCm39) |
D100E |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,850,566 (GRCm39) |
L240Q |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,637 (GRCm39) |
S781P |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,842,675 (GRCm39) |
|
probably benign |
Het |
| Zfta |
C |
T |
19: 7,398,712 (GRCm39) |
R243* |
probably null |
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 |
|
R6607:Ctbs
|
UTSW |
3 |
146,163,128 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
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'- CATGGCAGTTTCTGAATGCC -3'
(R):5'- GGAATTCAAACATTTGCGTGTC -3'
Sequencing Primer
(F):5'- GGGCATCAGATCCCATTACAGATG -3'
(R):5'- TGCGTGTCATTATTGAGCAAATG -3'
|
| Posted On |
2019-03-13 |
Incidental Mutation