Incidental Mutation 'R4536:Tysnd1'
| ID |
333334 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
R4536 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61531293-61538552 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 61531832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 161
(W161*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020284]
[ENSMUST00000020285]
[ENSMUST00000218135]
[ENSMUST00000219506]
|
| AlphaFold |
Q9DBA6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020284
AA Change: W161*
|
| SMART Domains |
Protein: ENSMUSP00000020284
Gene: ENSMUSG00000020087
AA Change: W161*
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
| Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
| Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
| Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
| Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
| Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
| Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
| Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGCGATGACCTACGTC -3'
(R):5'- CTCAGCGTGTTGAGGAAGATGTC -3'
Sequencing Primer
(F):5'- GCGATGACCTACGTCTCCAC -3'
(R):5'- ATGTCCGGGCAGAAGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation