Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Ctsh'

608953

Institutional Source

Beutler Lab

Gene Symbol

Ctsh

Ensembl Gene

ENSMUSG00000032359

Gene Name

cathepsin H

Synonyms

Cat H

MMRRC Submission

045936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89936320-89958148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89943476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 49 (D49G)

Ref Sequence

ENSEMBL: ENSMUSP00000114427 (fasta)

Gene Model

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

AlphaFold

P49935

Predicted Effect

probably benign
Transcript: ENSMUST00000034915

SMART Domains

Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359

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

probably benign
Transcript: ENSMUST00000123320

Predicted Effect

probably benign
Transcript: ENSMUST00000132718

SMART Domains

Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359

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: D49G

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

SMART Domains

Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359
AA Change: D49G

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

SMART Domains

Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,830,929 (GRCm39)	L3813F	probably benign	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fank1	G	C	7: 133,478,554 (GRCm39)	R206P	probably damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Mars1	A	G	10: 127,136,114 (GRCm39)	I525T	probably damaging	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Omd	A	G	13: 49,743,630 (GRCm39)	M227V	probably damaging	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Rhag	A	G	17: 41,142,536 (GRCm39)	Y247C	probably benign	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Serpinh1	C	T	7: 98,998,495 (GRCm39)	R45H	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
R6985:Ctsh	UTSW	9	89,936,657 (GRCm39)	missense	possibly damaging	0.90
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
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'- GATAGTGGCAGAATGAAAATCCCC -3'
(R):5'- GTGGGCTTGAATCTTCCTCC -3'

Sequencing Primer
(F):5'- ATCCCCATGGACTGGTGATTCAG -3'
(R):5'- CTCCAGTTGTTGGCAAACATC -3'

Posted On

2019-12-20