Mutagenetix > Incidental Mutation

Incidental Mutation 'R4373:Ctsz'

326048

Institutional Source

Beutler Lab

Gene Symbol

Ctsz

Ensembl Gene

ENSMUSG00000016256

Gene Name

cathepsin Z

Synonyms

CTSX, cathepsin X, D2Wsu143e

MMRRC Submission

041675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R4373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174269287-174280832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174270378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 268 (E268G)

Ref Sequence

ENSEMBL: ENSMUSP00000016400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]

AlphaFold

Q9WUU7

Predicted Effect

probably benign
Transcript: ENSMUST00000016397

SMART Domains

Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253

Domain	Start	End	E-Value	Type
Pfam:TH1	11	604	6.5e-276	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016400
AA Change: E268G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
AA Change: E268G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pept_C1	64	301	5.46e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109075

SMART Domains

Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253

Domain	Start	End	E-Value	Type
Pfam:TH1	10	590	5.6e-303	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143683

Meta Mutation Damage Score

0.5655

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate a mature enzyme with carboxypeptidase activity. An enzymatically inactive form of the protein, that is associated with the propeptide, may be involved in cancer cell invasion and proliferation. Homozygous knockout mice for this gene exhibit impaired cancer cell invasion in a breast cancer model. [provided by RefSeq, Aug 2015]
PHENOTYPE: No abnormal pheotype detected in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Akr1b1	A	C	6: 34,281,202 (GRCm39)		probably benign	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Asns	A	T	6: 7,677,978 (GRCm39)	S367T	probably damaging	Het
BC034090	T	C	1: 155,101,904 (GRCm39)	N120S	probably benign	Het
Bub1	A	T	2: 127,647,156 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Dach1	G	A	14: 98,065,186 (GRCm39)	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,533,874 (GRCm39)	L240S	probably benign	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Esam	C	T	9: 37,445,492 (GRCm39)	T71I	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Gde1	A	G	7: 118,297,781 (GRCm39)	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,466,647 (GRCm39)		probably benign	Het
H2-M10.6	T	C	17: 37,123,958 (GRCm39)	Y141H	probably damaging	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Lamc3	A	G	2: 31,788,244 (GRCm39)	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,297,489 (GRCm39)	F184S	probably damaging	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,687,074 (GRCm39)	T611S	probably benign	Het
Myc	A	T	15: 61,861,513 (GRCm39)	H373L	probably damaging	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naaa	T	C	5: 92,426,002 (GRCm39)		probably benign	Het
Nfib	A	G	4: 82,241,895 (GRCm39)	V432A	probably damaging	Het
Nmt1	A	G	11: 102,934,026 (GRCm39)	K55R	probably damaging	Het
Opa3	C	T	7: 18,978,699 (GRCm39)	R55W	probably damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Pld5	T	A	1: 175,967,583 (GRCm39)	I91F	probably damaging	Het
Plec	A	C	15: 76,067,317 (GRCm39)	S1350A	probably damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,685 (GRCm39)	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,334,367 (GRCm39)	S645P	probably damaging	Het
Rgs1	T	C	1: 144,123,644 (GRCm39)	T94A	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Sanbr	A	T	11: 23,565,265 (GRCm39)		probably null	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,405,989 (GRCm39)		probably benign	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Stat4	T	C	1: 52,111,100 (GRCm39)		probably null	Het
Tex9	A	T	9: 72,387,877 (GRCm39)		probably null	Het
Tsku	T	C	7: 98,002,038 (GRCm39)	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,620,395 (GRCm39)	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,511,667 (GRCm39)	I625F	probably damaging	Het
Xpo4	G	A	14: 57,828,479 (GRCm39)	Q794*	probably null	Het
Zfp112	T	A	7: 23,824,473 (GRCm39)	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	Het

Other mutations in Ctsz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Ctsz	APN	2	174,269,771 (GRCm39)	missense	probably damaging	0.99
IGL02574:Ctsz	APN	2	174,270,891 (GRCm39)	missense	probably benign	0.16
IGL03342:Ctsz	APN	2	174,270,933 (GRCm39)	missense	possibly damaging	0.92
IGL03348:Ctsz	APN	2	174,270,490 (GRCm39)	missense	probably damaging	0.98
R1872:Ctsz	UTSW	2	174,269,769 (GRCm39)	missense	probably benign
R4890:Ctsz	UTSW	2	174,270,393 (GRCm39)	missense	probably damaging	1.00
R8135:Ctsz	UTSW	2	174,270,946 (GRCm39)	missense	probably benign
R8694:Ctsz	UTSW	2	174,280,072 (GRCm39)	missense	probably benign	0.01
R8783:Ctsz	UTSW	2	174,280,675 (GRCm39)	nonsense	probably null
R8975:Ctsz	UTSW	2	174,275,421 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GTTTGACCCCAGCCTTAACTG -3'
(R):5'- ATAACTTTTCACAGCTGCGGG -3'

Sequencing Primer
(F):5'- AACTGTTTCCCGAGCACCG -3'
(R):5'- ACTTTTCACAGCTGCGGGATAATG -3'

Posted On

2015-07-06