Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Ctbs'

678869

Institutional Source

Beutler Lab

Gene Symbol

Ctbs

Ensembl Gene

ENSMUSG00000028189

Gene Name

chitobiase

Synonyms

2210401K11Rik

MMRRC Submission

068703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146156204-146171604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146169724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 327 (V327A)

Ref Sequence

ENSEMBL: ENSMUSP00000059167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000029840] [ENSMUST00000061937] [ENSMUST00000195949] [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
AA Change: V273A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029840
Gene: ENSMUSG00000028189
AA Change: V273A

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 benign
Transcript: ENSMUST00000061937
AA Change: V327A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000059167
Gene: ENSMUSG00000028189
AA Change: V327A

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: ENSMUST00000195949

SMART Domains

Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188

Domain	Start	End	E-Value	Type
Pfam:SPATA1_C	11	137	1e-41	PFAM

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 43,903,751 (GRCm39)	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,715,558 (GRCm39)	V877I	probably damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Asxl3	T	A	18: 22,657,763 (GRCm39)	D1924E	probably benign	Het
Bmp4	T	A	14: 46,621,902 (GRCm39)	E214V	probably damaging	Het
Calhm5	T	C	10: 33,968,415 (GRCm39)	S213G	probably benign	Het
Carmil1	A	G	13: 24,325,709 (GRCm39)	L207P	probably damaging	Het
Cdh24	T	C	14: 54,876,612 (GRCm39)	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,874,184 (GRCm39)	W752L	probably benign	Het
Clec1b	T	C	6: 129,382,212 (GRCm39)	*230Q	probably null	Het
Cyp2c40	A	T	19: 39,795,991 (GRCm39)	I129N	probably benign	Het
Dnajc10	T	A	2: 80,147,801 (GRCm39)	L21H	possibly damaging	Het
Dysf	A	G	6: 84,156,736 (GRCm39)	D1487G	probably benign	Het
Epb42	T	C	2: 120,849,987 (GRCm39)	Q674R	possibly damaging	Het
Foxb2	T	C	19: 16,850,958 (GRCm39)	Y16C	unknown	Het
Fto	T	C	8: 92,136,471 (GRCm39)		probably null	Het
Gcfc2	A	G	6: 81,918,347 (GRCm39)	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,077,312 (GRCm39)	S160P	probably benign	Het
Has2	C	T	15: 56,531,885 (GRCm39)	V277I	probably damaging	Het
Herc1	T	C	9: 66,318,456 (GRCm39)	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,277,203 (GRCm39)	E419K	probably benign	Het
Hsd17b11	T	C	5: 104,140,802 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Lactbl1	G	T	4: 136,360,243 (GRCm39)	A141S	probably benign	Het
Ncoa5	T	C	2: 164,854,927 (GRCm39)	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,871,067 (GRCm39)	I240V	probably benign	Het
Nim1k	T	A	13: 120,173,874 (GRCm39)	D340V	probably benign	Het
Oas2	T	C	5: 120,876,449 (GRCm39)	K498R	possibly damaging	Het
Or52e2	C	T	7: 102,804,411 (GRCm39)	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,160,957 (GRCm39)	S357P	probably damaging	Het
Pigk	G	A	3: 152,472,098 (GRCm39)	E384K	probably benign	Het
Ppp4r1	T	C	17: 66,136,376 (GRCm39)	V528A	probably damaging	Het
Rbm34	A	G	8: 127,679,908 (GRCm39)		probably benign	Het
Rnd1	A	G	15: 98,575,181 (GRCm39)	V17A	probably damaging	Het
Ros1	C	T	10: 51,977,805 (GRCm39)		probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Scin	T	C	12: 40,123,432 (GRCm39)	S484G	probably damaging	Het
Scn11a	C	T	9: 119,603,363 (GRCm39)	W1101*	probably null	Het
Scrn3	T	A	2: 73,148,636 (GRCm39)	V69D	probably damaging	Het
Serpina3j	A	G	12: 104,281,309 (GRCm39)	T161A	probably benign	Het
Sh3bp4	C	A	1: 89,080,064 (GRCm39)	A873D	probably damaging	Het
Tmem131	A	T	1: 36,868,658 (GRCm39)	I389N	probably damaging	Het
Tpp2	T	C	1: 44,016,415 (GRCm39)	L690P	probably damaging	Het
Trip13	T	C	13: 74,081,085 (GRCm39)	T94A	probably benign	Het
Vmn1r114	A	T	7: 20,545,171 (GRCm39)	L314*	probably null	Het
Vmn2r44	A	G	7: 8,370,650 (GRCm39)	Y799H	probably damaging	Het
Zfp574	T	C	7: 24,780,769 (GRCm39)	L597P	probably damaging	Het
Zfp944	A	T	17: 22,558,507 (GRCm39)	C247S	probably benign	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
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
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'- GTGGCTAATAGTCGGAACAGATC -3'
(R):5'- TTATACAGGTCAGTCCTACAAGTC -3'

Sequencing Primer
(F):5'- GTCGGAACAGATCAAATAAGGAATC -3'
(R):5'- GGTCAGTCCTACAAGTCTGATAGTC -3'

Posted On

2021-08-02