Incidental Mutation 'IGL01420:Tysnd1'
ID 80369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tysnd1
Ensembl Gene ENSMUSG00000020087
Gene Name trypsin domain containing 1
Synonyms 1300019N10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01420
Quality Score
Status
Chromosome 10
Chromosomal Location 61531293-61538552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61537830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 503 (T503A)
Ref Sequence ENSEMBL: ENSMUSP00000020284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020284] [ENSMUST00000218135]
AlphaFold Q9DBA6
Predicted Effect possibly damaging
Transcript: ENSMUST00000020284
AA Change: T503A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020284
Gene: ENSMUSG00000020087
AA Change: T503A

DomainStartEndE-ValueType
low complexity region 119 144 N/A INTRINSIC
low complexity region 269 284 N/A INTRINSIC
Tryp_SPc 334 521 3.32e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000218135
AA Change: T167A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect unknown
Transcript: ENSMUST00000218280
AA Change: H109R
Predicted Effect unknown
Transcript: ENSMUST00000219768
AA Change: H100R
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with globozoospermia, hypoactivity, absence acrosomal cap, indicators of liver damage, abnormal hepatocyte peroxisomes and autophagosomes and enlarged, beige livers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,920,637 (GRCm39) probably benign Het
Actr6 A T 10: 89,561,027 (GRCm39) probably benign Het
Adamts3 A T 5: 89,850,916 (GRCm39) M541K possibly damaging Het
Adgre4 T C 17: 56,106,785 (GRCm39) probably benign Het
Anxa6 T C 11: 54,883,189 (GRCm39) Y481C probably damaging Het
Apbb1ip A T 2: 22,748,292 (GRCm39) I371F possibly damaging Het
Arhgef10l T C 4: 140,297,649 (GRCm39) D261G probably damaging Het
Bche T C 3: 73,609,342 (GRCm39) H28R probably benign Het
C2cd3 T C 7: 100,104,065 (GRCm39) V2026A probably benign Het
Cacna1d C T 14: 29,773,595 (GRCm39) V1697I probably benign Het
Celsr2 T C 3: 108,301,079 (GRCm39) H2738R probably benign Het
Celsr3 A G 9: 108,718,389 (GRCm39) probably null Het
Cep152 A T 2: 125,405,572 (GRCm39) D1653E possibly damaging Het
Cfap57 T A 4: 118,470,137 (GRCm39) I248F probably benign Het
Clcnka C A 4: 141,116,643 (GRCm39) R536L probably benign Het
Dao T A 5: 114,161,881 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,175,367 (GRCm39) S585P possibly damaging Het
Dysf C T 6: 84,126,741 (GRCm39) Q1333* probably null Het
Eps8l2 T A 7: 140,937,576 (GRCm39) S397T probably benign Het
Fap A G 2: 62,334,846 (GRCm39) probably benign Het
Fbf1 T C 11: 116,036,822 (GRCm39) T971A probably benign Het
Fbxl17 C T 17: 63,692,047 (GRCm39) V22M probably damaging Het
Fcgbpl1 T A 7: 27,839,558 (GRCm39) M457K probably benign Het
Fundc2 T C X: 74,434,471 (GRCm39) probably benign Het
Heyl C A 4: 123,133,967 (GRCm39) Q42K probably damaging Het
Hyal4 A G 6: 24,755,871 (GRCm39) K30E probably benign Het
Igsf10 T C 3: 59,227,071 (GRCm39) I2201V probably benign Het
Il34 T C 8: 111,469,345 (GRCm39) K157E probably damaging Het
Kcnj13 T C 1: 87,316,766 (GRCm39) T116A probably damaging Het
Lpl T C 8: 69,340,085 (GRCm39) probably benign Het
Mcm6 A G 1: 128,273,612 (GRCm39) L406P probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Nadk2 T C 15: 9,103,072 (GRCm39) S308P probably damaging Het
Nae1 G T 8: 105,249,797 (GRCm39) Q225K probably benign Het
Ncoa6 G A 2: 155,249,507 (GRCm39) P1266S probably damaging Het
Neb A G 2: 52,047,389 (GRCm39) Y6485H probably damaging Het
Nin G A 12: 70,092,188 (GRCm39) A707V probably benign Het
Nmur1 T C 1: 86,315,113 (GRCm39) T218A probably benign Het
Npr3 T C 15: 11,858,718 (GRCm39) N135D probably damaging Het
Nup107 A T 10: 117,620,926 (GRCm39) L142Q probably damaging Het
Pdgfc T A 3: 81,048,750 (GRCm39) S53T probably benign Het
Plxdc2 T A 2: 16,654,950 (GRCm39) V232D probably damaging Het
Pou2f2 T C 7: 24,792,377 (GRCm39) N493D possibly damaging Het
Rtel1 T C 2: 180,996,194 (GRCm39) I750T probably benign Het
Sbk1 A G 7: 125,891,184 (GRCm39) probably null Het
Sec24d A G 3: 123,143,658 (GRCm39) N603S probably benign Het
Slc38a10 T A 11: 119,997,286 (GRCm39) E736V probably damaging Het
Smc6 A G 12: 11,341,659 (GRCm39) Y559C probably benign Het
Sprr4 A T 3: 92,407,691 (GRCm39) V37E unknown Het
Sptbn2 A G 19: 4,784,153 (GRCm39) T632A probably benign Het
Trim31 A G 17: 37,209,303 (GRCm39) M20V probably benign Het
Trim65 C A 11: 116,017,335 (GRCm39) V376L probably damaging Het
Ttn T C 2: 76,542,420 (GRCm39) D25195G probably damaging Het
Vtn A T 11: 78,390,200 (GRCm39) I9L probably benign Het
Zfp398 A G 6: 47,842,868 (GRCm39) M175V probably benign Het
Other mutations in Tysnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3846:Tysnd1 UTSW 10 61,531,867 (GRCm39) missense possibly damaging 0.79
R4536:Tysnd1 UTSW 10 61,531,832 (GRCm39) nonsense probably null
R4645:Tysnd1 UTSW 10 61,531,962 (GRCm39) missense probably benign 0.00
R4952:Tysnd1 UTSW 10 61,537,855 (GRCm39) missense possibly damaging 0.92
R5050:Tysnd1 UTSW 10 61,532,050 (GRCm39) missense probably damaging 1.00
R5338:Tysnd1 UTSW 10 61,532,028 (GRCm39) missense probably damaging 1.00
R6152:Tysnd1 UTSW 10 61,532,113 (GRCm39) missense probably damaging 1.00
R7299:Tysnd1 UTSW 10 61,532,328 (GRCm39) missense possibly damaging 0.92
R7301:Tysnd1 UTSW 10 61,532,328 (GRCm39) missense possibly damaging 0.92
R7358:Tysnd1 UTSW 10 61,532,427 (GRCm39) missense probably damaging 1.00
R7577:Tysnd1 UTSW 10 61,531,665 (GRCm39) missense probably benign
R7844:Tysnd1 UTSW 10 61,537,944 (GRCm39) nonsense probably null
R8444:Tysnd1 UTSW 10 61,531,950 (GRCm39) missense probably benign
Posted On 2013-11-05