Incidental Mutation 'IGL02008:Ctsh'
ID 183263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsh
Ensembl Gene ENSMUSG00000032359
Gene Name cathepsin H
Synonyms Cat H
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02008
Quality Score
Status
Chromosome 9
Chromosomal Location 89936320-89958148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89943600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 75 (Y75C)
Ref Sequence ENSEMBL: ENSMUSP00000117599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034915] [ENSMUST00000123320] [ENSMUST00000132718] [ENSMUST00000143172] [ENSMUST00000185459]
AlphaFold P49935
Predicted Effect probably damaging
Transcript: ENSMUST00000034915
AA Change: Y49C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: Y49C

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000127842
Predicted Effect probably damaging
Transcript: ENSMUST00000132718
AA Change: Y75C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359
AA Change: Y75C

DomainStartEndE-ValueType
Inhibitor_I29 59 114 7.24e-17 SMART
Pfam:Peptidase_C1 140 198 4.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142750
Predicted Effect probably benign
Transcript: ENSMUST00000143172
SMART Domains Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000185459
AA Change: Y46C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
AA Change: Y46C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Inhibitor_I29 30 85 5.3e-21 SMART
Pept_C1 85 291 9.4e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187437
Coding Region Coverage
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Abcf1 T C 17: 36,272,954 (GRCm39) E231G probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Cand2 T C 6: 115,780,599 (GRCm39) V1161A probably damaging Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Cpsf1 A T 15: 76,487,291 (GRCm39) V161D probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Ntn1 C T 11: 68,104,089 (GRCm39) V520M probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Rom1 T A 19: 8,905,368 (GRCm39) I271F probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ttll5 T C 12: 85,980,385 (GRCm39) S119P probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G probably benign Het
Other mutations in Ctsh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-05-07