Mutagenetix > Incidental Mutation

Incidental Mutation 'R7171:Ctsh'

558275

Institutional Source

Beutler Lab

Gene Symbol

Ctsh

Ensembl Gene

ENSMUSG00000032359

Gene Name

cathepsin H

Synonyms

Cat H

MMRRC Submission

045230-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89936320-89958148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89949154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 206 (I206K)

Ref Sequence

ENSEMBL: ENSMUSP00000034915 (fasta)

Gene Model

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

AlphaFold

P49935

Predicted Effect

probably benign
Transcript: ENSMUST00000034915
AA Change: I206K

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

SMART Domains

Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: I206K

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

SMART Domains

Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359

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: I168K

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

SMART Domains

Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
AA Change: I168K

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,454,897 (GRCm39)	N154S	unknown	Het
Ank3	C	T	10: 69,828,311 (GRCm39)	H2327Y		Het
Ano6	A	G	15: 95,818,172 (GRCm39)	Y305C	probably damaging	Het
Apc2	A	G	10: 80,151,170 (GRCm39)	T2075A	possibly damaging	Het
Arl6	A	G	16: 59,443,455 (GRCm39)	V93A	possibly damaging	Het
Bcas3	T	C	11: 85,474,763 (GRCm39)	S790P	probably damaging	Het
Bcl9l	C	A	9: 44,416,448 (GRCm39)	H211N	probably benign	Het
Bptf	G	T	11: 107,022,233 (GRCm39)	D172E	unknown	Het
Card9	T	G	2: 26,249,496 (GRCm39)	I22L	possibly damaging	Het
Catsperg1	C	A	7: 28,884,637 (GRCm39)	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,404,750 (GRCm39)	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,215,229 (GRCm39)	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,612,072 (GRCm39)	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,663,934 (GRCm39)	L503P	probably benign	Het
Cpn1	T	C	19: 43,962,470 (GRCm39)	N160D	probably damaging	Het
Cyb561d1	G	A	3: 108,106,679 (GRCm39)	T180M	probably damaging	Het
Dapk1	A	T	13: 60,909,599 (GRCm39)	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,556,684 (GRCm39)	R76L	probably benign	Het
Dnah7c	T	C	1: 46,719,898 (GRCm39)	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333 (GRCm39)	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,530,285 (GRCm39)	A310S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faap24	G	A	7: 35,092,279 (GRCm39)	Q213*	probably null	Het
Fam181b	G	A	7: 92,729,943 (GRCm39)	G239S	possibly damaging	Het
Fancm	T	C	12: 65,148,394 (GRCm39)	W670R	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,944 (GRCm39)	L1636*	probably null	Het
Fmnl1	T	C	11: 103,081,224 (GRCm39)	Y357H	probably damaging	Het
Fryl	A	T	5: 73,279,653 (GRCm39)	V215E	probably damaging	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Fsip2	T	A	2: 82,816,571 (GRCm39)	Y4101*	probably null	Het
Gcn1	G	A	5: 115,728,352 (GRCm39)	V738I	probably benign	Het
Gdf9	C	T	11: 53,328,366 (GRCm39)	R441C	probably damaging	Het
Gipc3	C	T	10: 81,177,455 (GRCm39)	G79E	probably damaging	Het
Gzmf	T	A	14: 56,443,391 (GRCm39)	I196L	probably benign	Het
Hectd1	A	T	12: 51,806,080 (GRCm39)	V1852E	probably damaging	Het
Hip1r	A	T	5: 124,134,007 (GRCm39)	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,746,890 (GRCm39)	S405P	probably damaging	Het
Il9r	T	A	11: 32,142,671 (GRCm39)	H294L	probably benign	Het
Kif12	G	A	4: 63,086,931 (GRCm39)	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,284,794 (GRCm39)	M1K	probably null	Het
Lamc2	A	T	1: 153,015,495 (GRCm39)	C613S	probably damaging	Het
Lgr4	T	A	2: 109,831,314 (GRCm39)	N314K	probably benign	Het
Lpcat2	T	C	8: 93,635,894 (GRCm39)	I432T	probably benign	Het
Mfhas1	T	C	8: 36,056,146 (GRCm39)	V207A	probably benign	Het
Msh3	T	G	13: 92,485,806 (GRCm39)	T173P	probably benign	Het
Mup15	T	A	4: 61,356,505 (GRCm39)	M87L	probably benign	Het
N4bp2	T	C	5: 65,965,365 (GRCm39)	V1138A	probably benign	Het
Noc2l	T	C	4: 156,326,179 (GRCm39)	V422A	probably benign	Het
Notch3	C	T	17: 32,377,936 (GRCm39)	G74D	probably damaging	Het
Ocstamp	T	A	2: 165,240,081 (GRCm39)	K35I	probably benign	Het
Or12k7	T	C	2: 36,958,400 (GRCm39)	F28L	possibly damaging	Het
Or52w1	A	G	7: 105,017,968 (GRCm39)	H145R	probably benign	Het
Or5p58	A	G	7: 107,694,342 (GRCm39)	V145A	probably benign	Het
Or9a2	T	G	6: 41,748,961 (GRCm39)	T91P	probably benign	Het
Plekhh2	T	A	17: 84,829,216 (GRCm39)	V29D	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Rad54l2	C	T	9: 106,590,677 (GRCm39)	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,567,189 (GRCm39)	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,708,049 (GRCm39)	I86N	possibly damaging	Het
Rims1	C	A	1: 22,498,740 (GRCm39)	R68L		Het
Rnf157	A	G	11: 116,253,199 (GRCm39)	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,815,009 (GRCm39)	C452Y	unknown	Het
S100a14	A	T	3: 90,435,069 (GRCm39)	K27*	probably null	Het
Scai	C	T	2: 38,996,948 (GRCm39)	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,672,195 (GRCm39)	I132N	probably benign	Het
Serpinf1	T	A	11: 75,308,811 (GRCm39)	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc16a10	C	G	10: 39,913,255 (GRCm39)	E484D	probably benign	Het
Slc1a5	T	A	7: 16,531,463 (GRCm39)	D489E	probably damaging	Het
Slx4	C	T	16: 3,808,650 (GRCm39)	R430H	probably benign	Het
Teddm1b	A	T	1: 153,750,679 (GRCm39)	I163F	probably damaging	Het
Tmem171	A	T	13: 98,828,744 (GRCm39)	C135*	probably null	Het
Tmem82	C	T	4: 141,342,284 (GRCm39)	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,681,781 (GRCm39)		probably null	Het
Trpm2	A	C	10: 77,759,848 (GRCm39)	L1096R	probably damaging	Het
Trrap	T	A	5: 144,730,859 (GRCm39)	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,718,732 (GRCm39)	D521G	probably benign	Het
Usp7	T	C	16: 8,534,390 (GRCm39)	D59G	probably benign	Het
Vcan	G	A	13: 89,873,710 (GRCm39)	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,910,316 (GRCm39)	L218P	probably damaging	Het
Wdr25	A	T	12: 108,990,922 (GRCm39)	T370S	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
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'- GCCACTAGAATGTGCCCTAC -3'
(R):5'- ATTCTGGATGGAGGTGGACAC -3'

Sequencing Primer
(F):5'- TGTGCCCTACCAAAATCCCAGTG -3'
(R):5'- GTGGACCAGTGGAACCAC -3'

Posted On

2019-06-26