Mutagenetix > Incidental Mutation

Incidental Mutation 'R7844:Tysnd1'

606520

Institutional Source

Beutler Lab

Gene Symbol

Tysnd1

Ensembl Gene

ENSMUSG00000020087

Gene Name

trypsin domain containing 1

Synonyms

1300019N10Rik

MMRRC Submission

045898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61531293-61538552 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 61537944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 541 (R541*)

Ref Sequence

ENSEMBL: ENSMUSP00000020284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020284] [ENSMUST00000218135]

AlphaFold

Q9DBA6

Predicted Effect

probably null
Transcript: ENSMUST00000020284
AA Change: R541*

SMART Domains

Protein: ENSMUSP00000020284
Gene: ENSMUSG00000020087
AA Change: R541*

Domain	Start	End	E-Value	Type
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: ENSMUST00000218135

Predicted Effect

probably benign
Transcript: ENSMUST00000218280

Predicted Effect

probably benign
Transcript: ENSMUST00000219768

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,423 (GRCm39)	E65G	unknown	Het
Aadacl2fm2	A	T	3: 59,637,318 (GRCm39)	I27F	probably benign	Het
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792 (GRCm38)	H55P	probably benign	Het
Acox3	A	T	5: 35,764,492 (GRCm39)	Q535L	probably benign	Het
Adora1	A	G	1: 134,131,276 (GRCm39)	W132R	probably damaging	Het
Armc3	A	G	2: 19,258,829 (GRCm39)	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,901,039 (GRCm39)	D956G	possibly damaging	Het
Bptf	C	A	11: 106,964,887 (GRCm39)	V1436F	probably damaging	Het
Brd9	A	G	13: 74,086,652 (GRCm39)	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,873 (GRCm39)	W453R	probably damaging	Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Col4a2	G	T	8: 11,475,453 (GRCm39)	E626*	probably null	Het
Dpp8	A	G	9: 64,952,949 (GRCm39)	I208M	probably damaging	Het
Evi5	T	C	5: 108,022,860 (GRCm39)	R16G	probably benign	Het
Gabrg1	T	C	5: 70,931,675 (GRCm39)	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,242,147 (GRCm39)	V94L	probably benign	Het
Gm4884	A	C	7: 40,690,122 (GRCm39)	Q6P	probably benign	Het
Gm9767	A	T	10: 25,954,255 (GRCm39)		probably benign	Het
Gopc	T	C	10: 52,215,845 (GRCm39)	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,538,873 (GRCm39)	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,166,132 (GRCm39)	T76S	probably damaging	Het
Inhbe	A	G	10: 127,186,779 (GRCm39)	S134P	possibly damaging	Het
Inpp4b	G	A	8: 82,467,949 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,322,062 (GRCm39)	V556A	probably benign	Het
Klhdc2	T	A	12: 69,349,180 (GRCm39)	F106I	probably damaging	Het
Krt7	G	A	15: 101,310,515 (GRCm39)	G54D	possibly damaging	Het
Mecom	T	G	3: 30,063,973 (GRCm39)	Y39S	unknown	Het
Mrpl49	C	T	19: 6,105,200 (GRCm39)	R87H	probably damaging	Het
Nfat5	A	G	8: 108,085,300 (GRCm39)	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,262,006 (GRCm39)	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or52d1	T	G	7: 103,755,690 (GRCm39)	L68W	probably damaging	Het
Pigu	A	C	2: 155,134,640 (GRCm39)	Y388*	probably null	Het
Pirb	A	T	7: 3,722,410 (GRCm39)	C144*	probably null	Het
Pkm	A	G	9: 59,578,005 (GRCm39)	H274R	probably benign	Het
Plch2	C	A	4: 155,073,922 (GRCm39)	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173 (GRCm39)	K596Q	probably damaging	Het
Scaper	A	T	9: 55,722,732 (GRCm39)	M692K	probably benign	Het
Serpine1	C	A	5: 137,100,043 (GRCm39)	G39*	probably null	Het
Serpine2	T	C	1: 79,794,516 (GRCm39)	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,444,267 (GRCm39)	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,330,448 (GRCm39)	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,711,088 (GRCm39)		probably null	Het
Snrnp48	A	G	13: 38,393,965 (GRCm39)	E90G	probably null	Het
Spaca7b	A	T	8: 11,706,174 (GRCm39)	I120K	probably benign	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
Spon1	G	A	7: 113,629,567 (GRCm39)	V404I	probably benign	Het
Tada3	C	T	6: 113,347,921 (GRCm39)	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,142,815 (GRCm39)		probably null	Het
Tdrd9	A	G	12: 111,964,386 (GRCm39)	Y336C	possibly damaging	Het
Timm44	A	G	8: 4,319,976 (GRCm39)	L64P	possibly damaging	Het
Tpo	A	G	12: 30,150,404 (GRCm39)	L492P	probably damaging	Het
Trip11	T	G	12: 101,844,403 (GRCm39)	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,759,340 (GRCm39)	I1148T	probably benign	Het
Tshz1	T	C	18: 84,032,296 (GRCm39)	E704G	probably benign	Het

Other mutations in Tysnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8444:Tysnd1	UTSW	10	61,531,950 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCACCATAGGTACCCCATC -3'
(R):5'- TTAGCCAGTGGGTGAAGACG -3'

Sequencing Primer
(F):5'- CATAGGTACCCCATCTACTGC -3'
(R):5'- GGCTCTATCCCAGCAGATGACTTAG -3'

Posted On

2019-12-20