Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Tysnd1'

458150

Institutional Source

Beutler Lab

Gene Symbol

Tysnd1

Ensembl Gene

ENSMUSG00000020087

Gene Name

trypsin domain containing 1

Synonyms

1300019N10Rik

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

61531293-61538552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61532050 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q9DBA6

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

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: ENSMUST00000020285

SMART Domains

Protein: ENSMUSP00000020285
Gene: ENSMUSG00000020088

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	probably damaging	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
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'- TCAATGGCACTTCGTAAGCTC -3'
(R):5'- GTGTAGCGGAGTGTACCAAC -3'

Sequencing Primer
(F):5'- ACTTCGTAAGCTCGGCGC -3'
(R):5'- TGTACCAACACCCTGGCTG -3'

Posted On

2017-02-17