Incidental Mutation 'R4645:Tysnd1'
ID 386344
Institutional Source Beutler Lab
Gene Symbol Tysnd1
Ensembl Gene ENSMUSG00000020087
Gene Name trypsin domain containing 1
Synonyms 1300019N10Rik
MMRRC Submission 041906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4645 (G1)
Quality Score 75
Status Validated
Chromosome 10
Chromosomal Location 61531293-61538552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61531962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 205 (V205L)
Ref Sequence ENSEMBL: ENSMUSP00000020284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020284] [ENSMUST00000020285] [ENSMUST00000218135] [ENSMUST00000219506]
AlphaFold Q9DBA6
Predicted Effect probably benign
Transcript: ENSMUST00000020284
AA Change: V205L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020284
Gene: ENSMUSG00000020087
AA Change: V205L

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 probably benign
Transcript: ENSMUST00000020285
SMART Domains Protein: ENSMUSP00000020285
Gene: ENSMUSG00000020088

DomainStartEndE-ValueType
SAR 9 197 7.79e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218135
Predicted Effect probably benign
Transcript: ENSMUST00000218280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219174
Predicted Effect probably benign
Transcript: ENSMUST00000219506
Predicted Effect probably benign
Transcript: ENSMUST00000219768
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (53/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,700 (GRCm39) E101G probably damaging Het
Adgrf5 A G 17: 43,748,416 (GRCm39) E29G probably damaging Het
Agfg2 T A 5: 137,682,854 (GRCm39) probably benign Het
Ap4b1 A G 3: 103,728,765 (GRCm39) S468G probably benign Het
AY702103 G T 17: 50,546,941 (GRCm39) noncoding transcript Het
Ccdc14 T C 16: 34,542,110 (GRCm39) L536S probably damaging Het
Ccr9 G T 9: 123,608,658 (GRCm39) M101I probably benign Het
Celsr1 A T 15: 85,800,957 (GRCm39) V2496E probably benign Het
Celsr2 C A 3: 108,303,285 (GRCm39) G2486V probably damaging Het
Cntnap3 A G 13: 64,926,602 (GRCm39) probably null Het
Erlin1 T C 19: 44,057,759 (GRCm39) Y22C probably damaging Het
Fam135b T C 15: 71,334,189 (GRCm39) T1002A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Glud1 T C 14: 34,033,063 (GRCm39) V70A probably damaging Het
Hdlbp A G 1: 93,349,842 (GRCm39) probably benign Het
Immt T C 6: 71,833,923 (GRCm39) L184P probably damaging Het
Iqsec1 T G 6: 90,644,995 (GRCm39) K983T probably damaging Het
Klhl6 A T 16: 19,765,897 (GRCm39) N568K probably damaging Het
Lbhd1 T G 19: 8,861,452 (GRCm39) probably benign Het
Lrit2 C T 14: 36,794,432 (GRCm39) R499C probably benign Het
Lrp6 T C 6: 134,461,213 (GRCm39) D748G probably damaging Het
Lrriq4 A G 3: 30,704,892 (GRCm39) K292E probably benign Het
Ly96 G T 1: 16,761,940 (GRCm39) E49* probably null Het
Lztr1 C T 16: 17,341,955 (GRCm39) probably benign Het
Mmp12 A G 9: 7,347,515 (GRCm39) M31V probably benign Het
Mok A T 12: 110,774,873 (GRCm39) probably benign Het
Mpi T C 9: 57,458,040 (GRCm39) H54R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or4c101 T C 2: 88,390,722 (GRCm39) I292T probably damaging Het
Pomt1 G T 2: 32,132,888 (GRCm39) probably benign Het
Ptpn20 G A 14: 33,353,169 (GRCm39) V303I probably benign Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Shank2 A G 7: 143,964,159 (GRCm39) K799R possibly damaging Het
Sim1 A T 10: 50,860,093 (GRCm39) T652S probably benign Het
Slc8a2 C T 7: 15,868,164 (GRCm39) T132I probably damaging Het
Spaca6 A T 17: 18,056,307 (GRCm39) probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tenm4 G T 7: 96,544,949 (GRCm39) G2322W probably damaging Het
Thap1 A G 8: 26,652,597 (GRCm39) T135A probably damaging Het
Traf3 T C 12: 111,228,400 (GRCm39) V537A probably damaging Het
Ttn T C 2: 76,578,680 (GRCm39) D24071G probably damaging Het
Unc79 T C 12: 103,079,081 (GRCm39) S1749P probably benign Het
Vmn2r50 T A 7: 9,771,162 (GRCm39) *846C probably null Het
Vmn2r74 C T 7: 85,606,317 (GRCm39) S343N probably benign Het
Zfyve28 T G 5: 34,379,787 (GRCm39) probably benign Het
Zmym2 T C 14: 57,165,764 (GRCm39) S696P probably damaging Het
Zscan4e T C 7: 11,041,002 (GRCm39) Y290C possibly damaging Het
Zswim2 G T 2: 83,745,891 (GRCm39) H516N probably benign Het
Other mutations in Tysnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Tysnd1 APN 10 61,537,830 (GRCm39) missense possibly damaging 0.71
R3846:Tysnd1 UTSW 10 61,531,867 (GRCm39) missense possibly damaging 0.79
R4536:Tysnd1 UTSW 10 61,531,832 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- TCGCGCGGATCAGGAACT -3'
(R):5'- GAACACTCCGCCGCCTTC -3'

Sequencing Primer
(F):5'- ACGCCTCAGTGCGCAAG -3'
(R):5'- CTCAGCGTGTTGAGGAA -3'
Posted On 2016-05-18