Mutagenetix > Incidental Mutation

Incidental Mutation 'R5499:Ctse'

430496

Institutional Source

Beutler Lab

Gene Symbol

Ctse

Ensembl Gene

ENSMUSG00000004552

Gene Name

cathepsin E

Synonyms

A430072O03Rik, CE, C920004C08Rik, CatE

MMRRC Submission

043060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5499 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131566052-131603245 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 131600251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 333 (Y333*)

Ref Sequence

ENSEMBL: ENSMUSP00000073072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073350] [ENSMUST00000112411]

AlphaFold

P70269

Predicted Effect

probably null
Transcript: ENSMUST00000073350
AA Change: Y333*

SMART Domains

Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: Y333*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:A1_Propeptide	22	50	7e-14	PFAM
Pfam:Asp	78	395	2.1e-129	PFAM
Pfam:TAXi_N	79	236	1.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112411

SMART Domains

Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:A1_Propeptide	22	50	2.7e-12	PFAM
Pfam:Asp	78	315	2e-99	PFAM
Pfam:TAXi_N	79	236	6.1e-14	PFAM
Pfam:Asp	310	362	6.8e-17	PFAM

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase A1 family of aspartate proteases and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. Homozygous knockout mice for this gene exhibit lysosomal storage disorder, impaired autophagy, mitochondrial abnormalities, dermatitis, and reduced weight gain in an obesity model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile, but develop skin lesions on the face, ears, neck and dorsal skin which are similar to those seen in human atopic dermatitis. [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
4933409G03Rik	G	A	2: 68,432,137 (GRCm39)	E74K	unknown	Het
Adam10	A	T	9: 70,647,399 (GRCm39)	H176L	probably benign	Het
Anapc5	C	T	5: 122,926,476 (GRCm39)	E621K	probably damaging	Het
Asf1a	T	A	10: 53,482,266 (GRCm39)	L26Q	probably damaging	Het
Atxn1l	A	G	8: 110,458,264 (GRCm39)	L666P	probably damaging	Het
Cep290	G	A	10: 100,373,515 (GRCm39)	R1265H	probably damaging	Het
Chd8	A	G	14: 52,441,888 (GRCm39)		probably null	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dnai7	A	T	6: 145,123,157 (GRCm39)	W570R	probably damaging	Het
Ercc6	G	A	14: 32,238,916 (GRCm39)	M1I	probably null	Het
Fbxl4	A	G	4: 22,386,017 (GRCm39)	E208G	probably damaging	Het
Fstl4	G	T	11: 52,959,374 (GRCm39)	M138I	probably benign	Het
Galnt17	T	A	5: 130,929,466 (GRCm39)	Q447L	probably benign	Het
H2-Q7	T	A	17: 35,658,916 (GRCm39)	C122*	probably null	Het
Herpud1	C	T	8: 95,116,041 (GRCm39)	L69F	probably damaging	Het
Hnrnpa3	A	G	2: 75,495,584 (GRCm39)	Y365C	probably benign	Het
Ino80	A	T	2: 119,272,128 (GRCm39)	V553E	probably damaging	Het
Kif13a	A	G	13: 46,986,212 (GRCm39)	Y38H	probably damaging	Het
Klk1b21	A	G	7: 43,755,100 (GRCm39)	I132V	probably benign	Het
Lamb2	T	C	9: 108,365,001 (GRCm39)	S1252P	possibly damaging	Het
Lct	T	A	1: 128,214,414 (GRCm39)	D1786V	probably damaging	Het
Lrig2	T	A	3: 104,368,873 (GRCm39)	M572L	probably benign	Het
Lrp1	C	T	10: 127,408,813 (GRCm39)	V1710I	possibly damaging	Het
Mmp12	C	A	9: 7,353,000 (GRCm39)	S250R	probably benign	Het
Mycbp2	T	C	14: 103,479,615 (GRCm39)	D1226G	probably damaging	Het
Myocd	A	G	11: 65,069,575 (GRCm39)	I755T	possibly damaging	Het
Nup210l	T	C	3: 90,081,677 (GRCm39)	L1003P	probably damaging	Het
Or11h23	G	A	14: 50,948,324 (GRCm39)	C179Y	probably damaging	Het
Or1af1	T	C	2: 37,109,777 (GRCm39)	I92T	possibly damaging	Het
Or52e8b	A	T	7: 104,674,184 (GRCm39)	M1K	probably null	Het
Palmd	T	A	3: 116,717,481 (GRCm39)	M339L	probably benign	Het
Phtf1	T	A	3: 103,898,491 (GRCm39)	N307K	probably benign	Het
Ppp2r3c	T	C	12: 55,335,411 (GRCm39)	I243V	probably benign	Het
Ptafr	A	G	4: 132,306,646 (GRCm39)	E12G	probably damaging	Het
Rpgrip1	T	A	14: 52,378,042 (GRCm39)	N463K	probably benign	Het
Sgcb	T	C	5: 73,801,748 (GRCm39)	N39S	probably damaging	Het
Skint5	A	G	4: 113,799,700 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn8	C	A	11: 82,895,042 (GRCm39)	S588I	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Top2a	C	T	11: 98,913,202 (GRCm39)	V77I	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vrk1	A	G	12: 106,018,024 (GRCm39)	K98E	possibly damaging	Het
Zcchc2	C	T	1: 105,958,322 (GRCm39)	T931I	possibly damaging	Het
Zfc3h1	T	A	10: 115,246,598 (GRCm39)	L895H	probably damaging	Het
Zfp101	T	C	17: 33,601,318 (GRCm39)	E108G	probably benign	Het
Zfp609	A	G	9: 65,610,137 (GRCm39)	V942A	probably benign	Het

Other mutations in Ctse

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Ctse	APN	1	131,600,273 (GRCm39)	missense	probably benign	0.00
IGL02492:Ctse	APN	1	131,595,972 (GRCm39)	missense	probably damaging	1.00
R0057:Ctse	UTSW	1	131,591,109 (GRCm39)	missense	probably damaging	1.00
R0057:Ctse	UTSW	1	131,591,109 (GRCm39)	missense	probably damaging	1.00
R0690:Ctse	UTSW	1	131,602,516 (GRCm39)	splice site	probably benign
R2198:Ctse	UTSW	1	131,600,185 (GRCm39)	nonsense	probably null
R4190:Ctse	UTSW	1	131,590,479 (GRCm39)	missense	probably benign	0.02
R4668:Ctse	UTSW	1	131,590,487 (GRCm39)	missense	probably damaging	1.00
R4971:Ctse	UTSW	1	131,592,130 (GRCm39)	missense	probably damaging	1.00
R5070:Ctse	UTSW	1	131,595,917 (GRCm39)	missense	probably damaging	1.00
R5705:Ctse	UTSW	1	131,592,112 (GRCm39)	missense	possibly damaging	0.82
R7207:Ctse	UTSW	1	131,592,112 (GRCm39)	missense	possibly damaging	0.82
R7828:Ctse	UTSW	1	131,590,491 (GRCm39)	missense	probably damaging	1.00
R8157:Ctse	UTSW	1	131,600,249 (GRCm39)	missense	probably damaging	1.00
R8237:Ctse	UTSW	1	131,590,467 (GRCm39)	missense	probably benign	0.01
R8270:Ctse	UTSW	1	131,595,877 (GRCm39)	missense	probably damaging	1.00
R8496:Ctse	UTSW	1	131,592,118 (GRCm39)	missense	probably damaging	1.00
R9229:Ctse	UTSW	1	131,595,862 (GRCm39)	missense	probably damaging	1.00
R9349:Ctse	UTSW	1	131,592,111 (GRCm39)	missense	probably benign	0.00
X0067:Ctse	UTSW	1	131,598,510 (GRCm39)	missense	probably damaging	1.00
Z1177:Ctse	UTSW	1	131,600,182 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTCAAGAGGCCATTGGG -3'
(R):5'- GGCAGCTTCATCTCTTTCAGAG -3'

Sequencing Primer
(F):5'- AAGTGAGTGTCTACCGAG -3'
(R):5'- TCTTTCAGAGAGAATGCCACATAGG -3'

Posted On

2016-10-05