Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Ctsh'

557094

Institutional Source

Beutler Lab

Gene Symbol

Ctsh

Ensembl Gene

ENSMUSG00000032359

Gene Name

cathepsin H

Synonyms

Cat H

MMRRC Submission

045092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6985 (G1)

Quality Score

64.0073

Status

Validated

Chromosome

Chromosomal Location

89936320-89958148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89936657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 19 (A19T)

Ref Sequence

ENSEMBL: ENSMUSP00000122108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034915] [ENSMUST00000123320] [ENSMUST00000132718] [ENSMUST00000143172] [ENSMUST00000185459]

AlphaFold

P49935

Predicted Effect

probably benign
Transcript: ENSMUST00000034915
AA Change: A19T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: A19T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Inhibitor_I29	33	88	7.24e-17	SMART
Pept_C1	114	330	7.46e-108	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123320
AA Change: A19T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000132718
AA Change: A45T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359
AA Change: A45T

Domain	Start	End	E-Value	Type
Inhibitor_I29	59	114	7.24e-17	SMART
Pfam:Peptidase_C1	140	198	4.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143172
AA Change: A19T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359
AA Change: A19T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1cs8a_	62	118	3e-6	SMART
Blast:Pept_C1	63	119	3e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000185459
AA Change: A16T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
AA Change: A16T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Inhibitor_I29	30	85	5.3e-21	SMART
Pept_C1	85	291	9.4e-87	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin H mini, heavy, and light chains. In rat and human, these three chains can associate to form the mature enzyme, which has both aminopeptidase and endopeptidase activities. Homozygous knockout mice for this gene exhibit impaired lung surfactant processing and reduced tumorigenesis in a pancreatic cancer model. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin1	A	G	4: 123,630,649 (GRCm39)	*192R	probably null	Het
Ankar	A	C	1: 72,697,641 (GRCm39)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,521,636 (GRCm39)	A20E	unknown	Het
Arhgap1	T	A	2: 91,498,543 (GRCm39)	Y147N	probably damaging	Het
Arid2	T	C	15: 96,268,029 (GRCm39)	V714A	probably benign	Het
Arrdc3	T	C	13: 81,031,776 (GRCm39)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,799,830 (GRCm39)	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,437,095 (GRCm39)	R98G	probably damaging	Het
Capn10	T	C	1: 92,871,146 (GRCm39)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,709,529 (GRCm39)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,309,560 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,460,757 (GRCm39)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,656,378 (GRCm39)	N893S	probably benign	Het
Cttn	C	A	7: 144,006,324 (GRCm39)	E214*	probably null	Het
Des	A	G	1: 75,343,431 (GRCm39)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,615,679 (GRCm39)	V109A	probably benign	Het
Dock1	A	G	7: 134,765,132 (GRCm39)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,229,934 (GRCm39)	I2184T	probably benign	Het
Enc1	C	T	13: 97,381,628 (GRCm39)	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,896,108 (GRCm39)	S670P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,201,460 (GRCm39)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,296,957 (GRCm39)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,892,785 (GRCm39)	E744Q	probably null	Het
Gmps	T	A	3: 63,922,960 (GRCm39)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,276,670 (GRCm39)	Y152F	probably damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Herc2	A	G	7: 55,782,228 (GRCm39)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,860,252 (GRCm39)	T14A	probably benign	Het
Insr	T	A	8: 3,211,372 (GRCm39)	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,154,731 (GRCm39)	G127C	probably damaging	Het
Krt10	T	C	11: 99,276,456 (GRCm39)	N65S	possibly damaging	Het
Lrig3	A	G	10: 125,850,738 (GRCm39)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,022,274 (GRCm39)	N306H	probably benign	Het
Map4k3	A	G	17: 80,944,161 (GRCm39)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,322,122 (GRCm39)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,315,594 (GRCm39)	L60S	probably damaging	Het
Muc4	A	T	16: 32,570,817 (GRCm39)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,444,117 (GRCm39)	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,786,432 (GRCm39)	F442L	possibly damaging	Het
Naa35	T	A	13: 59,775,757 (GRCm39)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,531,275 (GRCm39)	V645E	probably damaging	Het
Or52z14	A	G	7: 103,252,875 (GRCm39)	T5A	probably benign	Het
Or5af2	T	C	11: 58,707,939 (GRCm39)	F35S	probably damaging	Het
Otx1	A	T	11: 21,946,615 (GRCm39)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,630,211 (GRCm39)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,017,223 (GRCm39)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,214,643 (GRCm39)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm39)	D354A	probably benign	Het
Prtg	T	G	9: 72,758,783 (GRCm39)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,595,504 (GRCm39)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,958,555 (GRCm39)	S71G	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Shank1	A	G	7: 43,994,337 (GRCm39)	I833V	unknown	Het
Slc35f1	C	A	10: 52,898,007 (GRCm39)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,879,429 (GRCm39)	I36F	probably benign	Het
Sstr4	T	A	2: 148,238,169 (GRCm39)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trat1	A	G	16: 48,574,634 (GRCm39)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,828,075 (GRCm39)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 32,821,074 (GRCm39)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,778,530 (GRCm39)	D7G	probably damaging	Het

Other mutations in Ctsh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Ctsh	APN	9	89,946,291 (GRCm39)	missense	probably damaging	1.00
IGL01875:Ctsh	APN	9	89,946,260 (GRCm39)	missense	probably damaging	1.00
IGL02008:Ctsh	APN	9	89,943,600 (GRCm39)	missense	probably damaging	1.00
R0336:Ctsh	UTSW	9	89,957,791 (GRCm39)	missense	probably damaging	1.00
R0632:Ctsh	UTSW	9	89,943,635 (GRCm39)	missense	possibly damaging	0.82
R1488:Ctsh	UTSW	9	89,953,944 (GRCm39)	missense	possibly damaging	0.89
R1847:Ctsh	UTSW	9	89,943,618 (GRCm39)	missense	probably benign	0.04
R3613:Ctsh	UTSW	9	89,957,763 (GRCm39)	missense	probably damaging	1.00
R4270:Ctsh	UTSW	9	89,943,651 (GRCm39)	missense	probably damaging	0.99
R4860:Ctsh	UTSW	9	89,936,601 (GRCm39)	missense	probably benign	0.01
R5187:Ctsh	UTSW	9	89,936,643 (GRCm39)	missense	probably damaging	1.00
R5469:Ctsh	UTSW	9	89,942,564 (GRCm39)	critical splice donor site	probably null
R5900:Ctsh	UTSW	9	89,946,621 (GRCm39)	missense	probably damaging	1.00
R5937:Ctsh	UTSW	9	89,943,509 (GRCm39)	missense	probably benign
R6303:Ctsh	UTSW	9	89,944,796 (GRCm39)	missense	possibly damaging	0.83
R6657:Ctsh	UTSW	9	89,942,555 (GRCm39)	missense	probably benign	0.30
R6905:Ctsh	UTSW	9	89,944,819 (GRCm39)	missense	probably damaging	1.00
R7171:Ctsh	UTSW	9	89,949,154 (GRCm39)	missense	probably benign
R7342:Ctsh	UTSW	9	89,957,040 (GRCm39)	missense	probably benign
R7819:Ctsh	UTSW	9	89,942,556 (GRCm39)	missense	possibly damaging	0.71
R7884:Ctsh	UTSW	9	89,943,476 (GRCm39)	missense	probably benign
R8099:Ctsh	UTSW	9	89,946,300 (GRCm39)	missense	probably damaging	1.00
R8294:Ctsh	UTSW	9	89,950,489 (GRCm39)	missense	possibly damaging	0.74
R9195:Ctsh	UTSW	9	89,944,815 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGCAGGAGTGTAATGGCCAC -3'
(R):5'- AAAGTTTTGTGCCCTTAGCTGTC -3'

Sequencing Primer
(F):5'- TGTAATGGCCACAGGGGG -3'
(R):5'- AAGGCTTCTGTATCTAGATCTGAGCC -3'

Posted On

2019-06-14