Incidental Mutation 'R5050:Tysnd1'
ID458150
Institutional Source Beutler Lab
Gene Symbol Tysnd1
Ensembl Gene ENSMUSG00000020087
Gene Nametrypsin domain containing 1
Synonyms1300019N10Rik
MMRRC Submission 042640-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R5050 (G1)
Quality Score71
Status Validated
Chromosome10
Chromosomal Location61695514-61702773 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61696271 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 234 (I234N)
Ref Sequence ENSEMBL: ENSMUSP00000020284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020284] [ENSMUST00000020285] [ENSMUST00000218135] [ENSMUST00000219506]
Predicted Effect probably damaging
Transcript: ENSMUST00000020284
AA Change: I234N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020284
Gene: ENSMUSG00000020087
AA Change: I234N

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 0.3579 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (69/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,012,458 probably benign Het
Ap3m1 A G 14: 21,044,775 I108T probably benign Het
Apobec1 T C 6: 122,591,102 M1V probably null Het
Aqr A T 2: 114,112,609 L1161* probably null Het
Aqr A T 2: 114,170,025 probably null Het
Arhgef37 A G 18: 61,504,331 I420T probably benign Het
Cacna1g C T 11: 94,459,715 E435K probably damaging Het
Card6 G T 15: 5,100,376 H513N probably benign Het
Ccdc158 A C 5: 92,666,879 F29L probably benign Het
Ccr6 T C 17: 8,256,104 L47S probably damaging Het
Cdc42bpa T A 1: 180,072,453 Y444* probably null Het
Cdh17 A G 4: 11,784,654 Y270C probably damaging Het
Cdh9 T C 15: 16,778,147 F16S probably benign Het
Cdkl1 T C 12: 69,757,240 K141R probably damaging Het
Chd4 T C 6: 125,107,480 Y692H probably damaging Het
Dhrs7 T A 12: 72,657,410 D104V probably damaging Het
Dhtkd1 A T 2: 5,917,689 L553Q probably benign Het
Dnah7a T G 1: 53,497,096 D2596A probably benign Het
Dync1li2 T C 8: 104,437,441 K151E probably damaging Het
Eno4 C T 19: 58,955,496 H297Y probably benign Het
Epg5 T A 18: 77,975,941 D976E possibly damaging Het
Fam160b1 T A 19: 57,383,170 F571L probably damaging Het
Gm1966 T C 7: 106,596,972 noncoding transcript Het
Gm4553 C A 7: 142,165,036 K218N unknown Het
Gm4788 T A 1: 139,736,840 I494F probably damaging Het
Gpld1 A T 13: 24,962,756 T234S probably benign Het
Gtpbp6 A T 5: 110,104,701 probably benign Het
Gucy2g T C 19: 55,240,935 E101G probably benign Het
Hira G A 16: 18,925,859 R442K possibly damaging Het
Hrh3 A G 2: 180,100,557 L394P probably damaging Het
Igkv1-110 T A 6: 68,271,192 F95Y probably damaging Het
Iqgap3 T G 3: 88,090,186 V223G probably damaging Het
Itpk1 T C 12: 102,704,810 T3A probably damaging Het
Jag1 A G 2: 137,085,154 V895A possibly damaging Het
Kazn G A 4: 142,118,203 probably benign Het
Large2 A T 2: 92,367,779 L282Q probably benign Het
Lgmn A G 12: 102,403,421 probably null Het
Lrp4 A T 2: 91,492,422 I1119F probably benign Het
Map3k19 T C 1: 127,823,562 H684R probably benign Het
Mier3 C T 13: 111,714,573 A367V possibly damaging Het
Mpdz A G 4: 81,295,448 V1579A probably benign Het
Mroh2b A T 15: 4,900,450 D6V possibly damaging Het
Myh7b A G 2: 155,631,750 I1568V probably benign Het
Olfr675 T A 7: 105,024,387 I198F probably damaging Het
Plch2 C T 4: 155,043,309 probably benign Het
Plek T C 11: 16,995,216 D38G probably damaging Het
Polr2f A G 15: 79,144,662 probably benign Het
Samsn1 A G 16: 75,888,757 S38P probably benign Het
Sf1 C T 19: 6,372,559 T248I probably damaging Het
Sgms2 C T 3: 131,330,356 V232M probably benign Het
Sharpin A T 15: 76,348,330 L160H probably damaging Het
Sympk C T 7: 19,036,042 R215C probably benign Het
Syn3 T C 10: 86,407,668 T136A probably benign Het
Tcam1 G A 11: 106,285,452 V335M possibly damaging Het
Tedc1 G T 12: 113,156,705 V56L possibly damaging Het
Tenm4 T C 7: 96,895,788 L2337P probably damaging Het
Ttn G A 2: 76,884,811 probably benign Het
Vmn2r51 T C 7: 10,100,422 K230E probably damaging Het
Other mutations in Tysnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Tysnd1 APN 10 61702051 missense possibly damaging 0.71
R3846:Tysnd1 UTSW 10 61696088 missense possibly damaging 0.79
R4536:Tysnd1 UTSW 10 61696053 nonsense probably null
R4645:Tysnd1 UTSW 10 61696183 missense probably benign 0.00
R4952:Tysnd1 UTSW 10 61702076 missense possibly damaging 0.92
R5338:Tysnd1 UTSW 10 61696249 missense probably damaging 1.00
R6152:Tysnd1 UTSW 10 61696334 missense probably damaging 1.00
R7299:Tysnd1 UTSW 10 61696549 missense possibly damaging 0.92
R7301:Tysnd1 UTSW 10 61696549 missense possibly damaging 0.92
R7358:Tysnd1 UTSW 10 61696648 missense probably damaging 1.00
R7577:Tysnd1 UTSW 10 61695886 missense probably benign
R7844:Tysnd1 UTSW 10 61702165 nonsense probably null
R7927:Tysnd1 UTSW 10 61702165 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAATGGCACTTCGTAAGCTC -3'
(R):5'- GTGTAGCGGAGTGTACCAAC -3'

Sequencing Primer
(F):5'- ACTTCGTAAGCTCGGCGC -3'
(R):5'- TGTACCAACACCCTGGCTG -3'
Posted On2017-02-17