Incidental Mutation 'IGL01796:Tpp1'
ID 155376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpp1
Ensembl Gene ENSMUSG00000030894
Gene Name tripeptidyl peptidase I
Synonyms Cln2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01796
Quality Score
Status
Chromosome 7
Chromosomal Location 105744811-105752235 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 105747650 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000141116] [ENSMUST00000149695] [ENSMUST00000163389] [ENSMUST00000210066]
AlphaFold O89023
Predicted Effect probably benign
Transcript: ENSMUST00000033182
SMART Domains Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890

DomainStartEndE-ValueType
ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Pfam:Pkinase 193 445 1.5e-25 PFAM
Pfam:Pkinase_Tyr 193 446 7.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033184
SMART Domains Protein: ENSMUSP00000033184
Gene: ENSMUSG00000030894

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pro-kuma_activ 32 176 4.53e-50 SMART
low complexity region 177 189 N/A INTRINSIC
Pfam:Peptidase_S8 251 492 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000054556
Predicted Effect probably benign
Transcript: ENSMUST00000130565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131683
Predicted Effect probably benign
Transcript: ENSMUST00000141116
SMART Domains Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866

DomainStartEndE-ValueType
low complexity region 17 39 N/A INTRINSIC
low complexity region 45 91 N/A INTRINSIC
Pfam:TFIID_30kDa 128 177 6.1e-30 PFAM
low complexity region 181 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146999
Predicted Effect probably benign
Transcript: ENSMUST00000149695
Predicted Effect probably benign
Transcript: ENSMUST00000163389
SMART Domains Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890

DomainStartEndE-ValueType
ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Pfam:Pkinase_Tyr 193 446 4e-39 PFAM
Pfam:Pkinase 195 445 3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210018
Predicted Effect probably benign
Transcript: ENSMUST00000210066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211204
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a lysosomal serine protease that cleaves N-terminal tripeptides from protein substrates. The encoded preproprotein undergoes autocatalytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit a progressive neurodegeneration and a greatly shortened lifespan. At the cellular level, mice lacking the encoded protein exhibit accumulation of autofluorescent lipopigments. Mutations in the human ortholog of this gene cause classical late-infantile neuronal ceroid lipofuscinosis. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for targeted mutations exhibit progressive motor defects, reduced lifespan, and respiratory difficulty. One mutation also shows extensive neuronal degeneration and an accumulation of lysosomal storage material. Mice homozygous for a different allele exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,513,209 Y511H probably damaging Het
Abca7 T G 10: 80,013,909 Y1948D probably damaging Het
Adgrl2 C A 3: 148,858,975 G319V probably damaging Het
Adgrv1 T A 13: 81,567,342 D909V probably benign Het
Anapc16 T C 10: 59,988,757 E119G possibly damaging Het
C1qtnf12 T C 4: 155,966,429 V285A possibly damaging Het
Cbr1 A C 16: 93,608,231 N89T probably damaging Het
Cdh23 T A 10: 60,311,137 Q2778L probably benign Het
Clca4c-ps A G 3: 144,889,579 noncoding transcript Het
Cst9 T C 2: 148,835,349 F47L probably damaging Het
Dqx1 T C 6: 83,066,427 probably benign Het
Dus4l T C 12: 31,642,795 S150G probably benign Het
E2f2 A T 4: 136,180,417 K142* probably null Het
Eif2ak4 T A 2: 118,446,304 H169Q probably benign Het
Fmo9 C T 1: 166,663,335 A525T probably benign Het
Gm42878 T C 5: 121,545,184 D6G probably benign Het
Igfals A G 17: 24,880,082 Y49C probably damaging Het
Iltifb T C 10: 118,290,164 N176S possibly damaging Het
Ipo7 T C 7: 110,029,848 probably benign Het
Itga1 T C 13: 114,985,121 E784G probably damaging Het
Jcad G T 18: 4,672,855 E206* probably null Het
Kif24 A T 4: 41,392,978 probably benign Het
Lrrc2 T A 9: 110,980,818 probably null Het
Ltbp1 A G 17: 75,227,245 probably benign Het
Man2c1 C T 9: 57,137,960 T451I possibly damaging Het
Manba T A 3: 135,542,389 N346K probably damaging Het
Nell1 T C 7: 50,176,216 probably benign Het
Nfat5 T C 8: 107,367,641 V744A probably damaging Het
Nms T C 1: 38,946,111 M98T possibly damaging Het
Nos1 A T 5: 117,938,274 K1120* probably null Het
Olfr741 C A 14: 50,485,541 Q28K probably benign Het
Plekho1 C T 3: 95,990,835 R172H probably damaging Het
Pot1b A T 17: 55,669,750 C391S possibly damaging Het
Scn1a G A 2: 66,332,301 probably benign Het
Sgce T G 6: 4,711,326 N149H probably damaging Het
Slc45a1 A G 4: 150,643,969 W126R probably damaging Het
Slc9a1 G A 4: 133,420,093 probably benign Het
Tmem131l T A 3: 83,938,055 K423* probably null Het
Tnrc18 C T 5: 142,764,887 E1444K possibly damaging Het
Trip12 A C 1: 84,728,278 S610R probably benign Het
Ushbp1 G T 8: 71,387,432 A525E probably benign Het
Vmn2r106 A T 17: 20,268,052 M695K possibly damaging Het
Vmn2r118 A G 17: 55,608,585 I455T probably benign Het
Zbtb41 T C 1: 139,442,883 F686S probably damaging Het
Other mutations in Tpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Tpp1 APN 7 105749053 missense probably damaging 1.00
IGL01520:Tpp1 APN 7 105747729 missense probably benign 0.32
IGL01797:Tpp1 APN 7 105749252 missense probably benign 0.07
IGL01923:Tpp1 APN 7 105751650 missense probably benign 0.34
IGL02400:Tpp1 APN 7 105747031 missense possibly damaging 0.91
IGL02411:Tpp1 APN 7 105749619 missense probably damaging 1.00
IGL02423:Tpp1 APN 7 105749700 missense probably damaging 1.00
IGL02672:Tpp1 APN 7 105746961 missense probably benign
IGL03180:Tpp1 APN 7 105746649 missense probably benign
R0709:Tpp1 UTSW 7 105749607 missense probably benign 0.19
R0711:Tpp1 UTSW 7 105749419 missense probably damaging 1.00
R1222:Tpp1 UTSW 7 105746741 missense probably benign 0.05
R1673:Tpp1 UTSW 7 105747673 missense probably damaging 0.99
R1799:Tpp1 UTSW 7 105750308 missense probably benign 0.00
R1822:Tpp1 UTSW 7 105749647 missense probably benign
R1984:Tpp1 UTSW 7 105751698 missense probably benign 0.04
R2109:Tpp1 UTSW 7 105749970 missense probably damaging 1.00
R4304:Tpp1 UTSW 7 105750309 missense possibly damaging 0.70
R4618:Tpp1 UTSW 7 105751706 missense probably benign 0.05
R4746:Tpp1 UTSW 7 105748951 missense probably damaging 1.00
R4764:Tpp1 UTSW 7 105749251 missense probably damaging 1.00
R4837:Tpp1 UTSW 7 105746649 missense probably benign
R4855:Tpp1 UTSW 7 105746723 missense probably benign
R5015:Tpp1 UTSW 7 105752025 unclassified probably benign
R5677:Tpp1 UTSW 7 105747536 missense probably damaging 1.00
R5916:Tpp1 UTSW 7 105749380 missense probably damaging 0.97
R6149:Tpp1 UTSW 7 105747727 missense probably benign 0.00
R6291:Tpp1 UTSW 7 105747016 missense probably benign 0.05
R6422:Tpp1 UTSW 7 105746956 missense probably benign 0.01
R6671:Tpp1 UTSW 7 105749607 missense probably benign 0.19
R6841:Tpp1 UTSW 7 105748964 missense probably damaging 0.96
R6851:Tpp1 UTSW 7 105749712 missense probably damaging 1.00
R7022:Tpp1 UTSW 7 105748922 missense probably damaging 1.00
R7106:Tpp1 UTSW 7 105749911 missense possibly damaging 0.67
R7260:Tpp1 UTSW 7 105747497 missense probably benign 0.00
R7485:Tpp1 UTSW 7 105749544 missense probably damaging 1.00
R8185:Tpp1 UTSW 7 105749223 critical splice donor site probably null
R8204:Tpp1 UTSW 7 105750315 missense probably damaging 0.98
R8513:Tpp1 UTSW 7 105749579 missense possibly damaging 0.93
R8863:Tpp1 UTSW 7 105749607 missense probably benign 0.19
R8937:Tpp1 UTSW 7 105747419 missense probably benign 0.00
R9003:Tpp1 UTSW 7 105748949 missense probably benign 0.07
R9178:Tpp1 UTSW 7 105751639 missense probably benign 0.00
R9352:Tpp1 UTSW 7 105749674 missense probably benign 0.00
R9501:Tpp1 UTSW 7 105749257 missense probably benign 0.11
R9597:Tpp1 UTSW 7 105747507 missense probably benign
R9683:Tpp1 UTSW 7 105748897 missense probably damaging 1.00
Posted On 2014-02-04